Annotations: 1NFI

Domain Annotation: SCOP/SCOPe Classification SCOP-e Database Homepage

Chains	Domain Info	Class	Fold	Superfamily	Family	Domain	Species	Provenance Source (Version)
A	d1nfia1	All beta proteins	Immunoglobulin-like beta-sandwich	E set domains	NF-kappa-B/REL/DORSAL transcription factors, C-terminal domain	p65 subunit of NF-kappa B (NFKB), dimerization domain	human (Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
A	d1nfia2	All beta proteins	Common fold of diphtheria toxin/transcription factors/cytochrome f	p53-like transcription factors	Rel/Dorsal transcription factors, DNA-binding domain	p65 subunit of NF-kappa B (NFKB), N-terminal domain	human (Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
C	d1nfic1	All beta proteins	Immunoglobulin-like beta-sandwich	E set domains	NF-kappa-B/REL/DORSAL transcription factors, C-terminal domain	p65 subunit of NF-kappa B (NFKB), dimerization domain	human (Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
C	d1nfic2	All beta proteins	Common fold of diphtheria toxin/transcription factors/cytochrome f	p53-like transcription factors	Rel/Dorsal transcription factors, DNA-binding domain	p65 subunit of NF-kappa B (NFKB), N-terminal domain	human (Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
B	d1nfib_	All beta proteins	Immunoglobulin-like beta-sandwich	E set domains	NF-kappa-B/REL/DORSAL transcription factors, C-terminal domain	p50 subunit of NF-kappa B transcription factor	human (Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
D	d1nfid_	All beta proteins	Immunoglobulin-like beta-sandwich	E set domains	NF-kappa-B/REL/DORSAL transcription factors, C-terminal domain	p50 subunit of NF-kappa B transcription factor	human (Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
F	d1nfif_	Alpha and beta proteins (a+b)	beta-hairpin-alpha-hairpin repeat	Ankyrin repeat	Ankyrin repeat	I-kappa-B-alpha	human (Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)
E	d1nfie_	Alpha and beta proteins (a+b)	beta-hairpin-alpha-hairpin repeat	Ankyrin repeat	Ankyrin repeat	I-kappa-B-alpha	human (Homo sapiens ) [TaxId: 9606 ],	SCOPe (2.08)

Domain Annotation: SCOP2 Classification SCOP2 Database Homepage

Chains	Type	Family Name	Domain Identifier	Family Identifier	Provenance Source (Version)
A	SCOP2 Family	NF-kappa-B/REL/DORSAL transcription factors C-terminal domain-like	8054878	4007562	SCOP2 (2022-06-29)
A	SCOP2 Family	Rel/Dorsal transcription factors DNA-binding domain	8027856	4001849	SCOP2 (2022-06-29)
A	SCOP2 Superfamily	E set domains	8054879	3000070	SCOP2 (2022-06-29)
A	SCOP2 Superfamily	p53-like transcription factors	8040235	3000758	SCOP2 (2022-06-29)
C	SCOP2B Superfamily	E set domains	8054879	3000070	SCOP2B (2022-06-29)
C	SCOP2B Superfamily	p53-like transcription factors	8040235	3000758	SCOP2B (2022-06-29)
B	SCOP2B Superfamily	E set domains	8054865	3000070	SCOP2B (2022-06-29)
D	SCOP2B Superfamily	E set domains	8054865	3000070	SCOP2B (2022-06-29)
F	SCOP2B Superfamily	Ankyrin repeat	8057711	3000154	SCOP2B (2022-06-29)
E	SCOP2B Superfamily	Ankyrin repeat	8057711	3000154	SCOP2B (2022-06-29)

Domain Annotation: ECOD Classification ECOD Database Homepage

Chains	Family Name	Domain Identifier	Architecture	Possible Homology	Homology	Topology	Family	Provenance Source (Version)
A	PF16179	e1nfiA1	A: beta sandwiches	X: Immunoglobulin-like beta-sandwich	H: Immunoglobulin-related	T: Immunoglobulin/Fibronectin type III/E set domains/PapD-like	F: PF16179	ECOD (1.6)
A	PF00554	e1nfiA2	A: beta sandwiches	X: Immunoglobulin-like beta-sandwich	H: Immunoglobulin-related	T: Common fold of diphtheria toxin/transcription factors/cytochrome f	F: PF00554	ECOD (1.6)
C	PF16179	e1nfiC1	A: beta sandwiches	X: Immunoglobulin-like beta-sandwich	H: Immunoglobulin-related	T: Immunoglobulin/Fibronectin type III/E set domains/PapD-like	F: PF16179	ECOD (1.6)
C	PF00554	e1nfiC2	A: beta sandwiches	X: Immunoglobulin-like beta-sandwich	H: Immunoglobulin-related	T: Common fold of diphtheria toxin/transcription factors/cytochrome f	F: PF00554	ECOD (1.6)
B	PF16179	e1nfiB1	A: beta sandwiches	X: Immunoglobulin-like beta-sandwich	H: Immunoglobulin-related	T: Immunoglobulin/Fibronectin type III/E set domains/PapD-like	F: PF16179	ECOD (1.6)
D	PF16179	e1nfiD1	A: beta sandwiches	X: Immunoglobulin-like beta-sandwich	H: Immunoglobulin-related	T: Immunoglobulin/Fibronectin type III/E set domains/PapD-like	F: PF16179	ECOD (1.6)
F	PF12796	e1nfiF1	A: alpha superhelices	X: Repetitive alpha hairpins	H: Ankyrin repeat (From Topology)	T: Ankyrin repeat	F: PF12796	ECOD (1.6)
E	PF12796	e1nfiE1	A: alpha superhelices	X: Repetitive alpha hairpins	H: Ankyrin repeat (From Topology)	T: Ankyrin repeat	F: PF12796	ECOD (1.6)

Domain Annotation: CATH CATH Database Homepage

Chain	Domain	Class	Architecture	Topology	Homology	Provenance Source (Version)
A	2.60.40.340	Mainly Beta	Sandwich	Immunoglobulin-like	Rel homology domain (RHD), DNA-binding domain	CATH (4.3.0)
A	2.60.40.10	Mainly Beta	Sandwich	Immunoglobulin-like	Immunoglobulins	CATH (4.3.0)
C	2.60.40.340	Mainly Beta	Sandwich	Immunoglobulin-like	Rel homology domain (RHD), DNA-binding domain	CATH (4.3.0)
C	2.60.40.10	Mainly Beta	Sandwich	Immunoglobulin-like	Immunoglobulins	CATH (4.3.0)
B	2.60.40.10	Mainly Beta	Sandwich	Immunoglobulin-like	Immunoglobulins	CATH (4.3.0)
D	2.60.40.10	Mainly Beta	Sandwich	Immunoglobulin-like	Immunoglobulins	CATH (4.3.0)
F	1.25.40.20	Mainly Alpha	Alpha Horseshoe	Serine Threonine Protein Phosphatase 5, Tetratricopeptide repeat	Ankyrin repeat-containing domain	CATH (4.3.0)
E	1.25.40.20	Mainly Alpha	Alpha Horseshoe	Serine Threonine Protein Phosphatase 5, Tetratricopeptide repeat	Ankyrin repeat-containing domain	CATH (4.3.0)

Protein Family Annotation Pfam Database Homepage

Chains	Accession	Name	Description	Comments	Source
A, C	PF16179	Rel homology dimerisation domain (RHD_dimer)	Rel homology dimerisation domain	The Rel homology domain (RHD) is composed of two structural domains, an N-terminal DNA_binding domain (Pfam:PF00554) and a C-terminal dimerisation domain. This is the dimerisation domain [1].	Domain
A, C	PF00554	Rel homology DNA-binding domain (RHD_DNA_bind)	Rel homology DNA-binding domain	Proteins containing the Rel homology domain (RHD) are eukaryotic transcription factors. The RHD is composed of two structural domains. This is the N-terminal DNA-binding domain that is similar to that found in P53. The C-terminal domain has an immu ...	Proteins containing the Rel homology domain (RHD) are eukaryotic transcription factors. The RHD is composed of two structural domains. This is the N-terminal DNA-binding domain that is similar to that found in P53. The C-terminal domain has an immunoglobulin-like fold (See Pfam:PF16179) that functions as a dimerisation domain [1-2].	Domain
B, D	PF16179	Rel homology dimerisation domain (RHD_dimer)	Rel homology dimerisation domain	The Rel homology domain (RHD) is composed of two structural domains, an N-terminal DNA_binding domain (Pfam:PF00554) and a C-terminal dimerisation domain. This is the dimerisation domain [1].	Domain
E, F	PF00023	Ankyrin repeat (Ank)	Ankyrin repeat	-	Repeat

Gene Ontology: Gene Product Annotation Gene Ontology Database Homepage

Chains	Polymer	Molecular Function	Biological Process	Cellular Component
A, C	NF-KAPPA-B P65	histone deacetylase binding protein binding binding enzyme binding DNA binding organic cyclic compound binding nucleic acid binding ubiquitin protein ligase binding ubiquitin-like protein ligase binding sequence-specific DNA binding double-stranded DNA binding core promoter sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding histone deacetylase binding protein binding binding enzyme binding DNA binding organic cyclic compound binding nucleic acid binding ubiquitin protein ligase binding ubiquitin-like protein ligase binding sequence-specific DNA binding double-stranded DNA binding core promoter sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding sequence-specific double-stranded DNA binding transcription cis-regulatory region binding transcription regulatory region nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific transcription regulator activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription activator activity transcription factor binding general transcription initiation factor binding ankyrin repeat binding protein domain specific binding ion binding anion binding phosphate ion binding small molecule binding identical protein binding protein homodimerization activity protein dimerization activity kinase binding protein kinase binding transcription coregulator binding transcription coactivator binding protein-containing complex binding chromatin binding chromatin DNA binding DNA-binding transcription factor binding RNA polymerase II-specific DNA-binding transcription factor binding NF-kappaB binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription repressor activity cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding cytoskeletal protein binding actinin binding peptide binding	response to stimulus response to chemical response to xenobiotic stimulus response to tumor cell defense response response to stress defense response to tumor cell response to biotic stimulus response to ischemia cellular response to stimulus regulation of biological process regulation of cellular process signaling biological regulation response to stimulus response to chemical response to xenobiotic stimulus response to tumor cell defense response response to stress defense response to tumor cell response to biotic stimulus response to ischemia cellular response to stimulus regulation of biological process regulation of cellular process signaling biological regulation cell-cell signaling postsynaptic signal transduction cell communication synaptic signaling cellular process postsynapse to nucleus signaling pathway signal transduction cellular response to growth factor stimulus cell surface receptor signaling pathway response to endogenous stimulus cell surface receptor protein tyrosine kinase signaling pathway vascular endothelial growth factor signaling pathway cellular response to endogenous stimulus cellular response to vascular endothelial growth factor stimulus response to growth factor enzyme-linked receptor protein signaling pathway organonitrogen compound catabolic process organonitrogen compound metabolic process catabolic process primary metabolic process protein catabolic process macromolecule catabolic process organic substance metabolic process metabolic process protein metabolic process macromolecule metabolic process organic substance catabolic process positive regulation of biological process RNA metabolic process positive regulation of miRNA metabolic process regulation of primary metabolic process nucleobase-containing compound metabolic process positive regulation of metabolic process regulation of RNA metabolic process regulation of miRNA metabolic process positive regulation of macromolecule metabolic process regulation of nucleobase-containing compound metabolic process miRNA metabolic process positive regulation of nucleobase-containing compound metabolic process regulation of macromolecule metabolic process nucleic acid metabolic process positive regulation of RNA metabolic process organic cyclic compound metabolic process ncRNA metabolic process regulation of metabolic process non-canonical NF-kappaB signal transduction intracellular signal transduction intracellular signaling cassette positive regulation of macromolecule biosynthetic process DNA-templated transcription organic substance biosynthetic process cellular metabolic process regulation of cellular metabolic process regulation of gene expression biosynthetic process organic cyclic compound biosynthetic process regulation of macromolecule biosynthetic process regulation of DNA-templated transcription cellular biosynthetic process positive regulation of DNA-templated transcription positive regulation of miRNA transcription positive regulation of cellular metabolic process RNA biosynthetic process nucleic acid biosynthetic process miRNA transcription positive regulation of biosynthetic process positive regulation of cellular process regulation of RNA biosynthetic process regulation of biosynthetic process nucleobase-containing compound biosynthetic process gene expression macromolecule biosynthetic process regulation of cellular biosynthetic process positive regulation of RNA biosynthetic process positive regulation of cellular biosynthetic process regulation of miRNA transcription response to nutrient levels response to organic substance response to organonitrogen compound response to nutrient response to oxygen-containing compound response to nitrogen compound response to vitamin response to cobalamin response to organic cyclic compound multicellular organismal process positive regulation of interleukin-8 production cytokine production regulation of cytokine production regulation of multicellular organismal process interleukin-8 production positive regulation of gene expression positive regulation of multicellular organismal process positive regulation of cytokine production regulation of interleukin-8 production positive regulation of cell communication immune response-regulating cell surface receptor signaling pathway positive regulation of signal transduction positive regulation of T cell receptor signaling pathway regulation of antigen receptor-mediated signaling pathway regulation of signal transduction positive regulation of response to stimulus immune response-activating signaling pathway immune response-regulating signaling pathway positive regulation of immune response regulation of immune system process positive regulation of immune system process regulation of signaling immune response-activating cell surface receptor signaling pathway immune response regulation of T cell receptor signaling pathway T cell receptor signaling pathway regulation of response to stimulus immune system process regulation of immune response regulation of cell communication antigen receptor-mediated signaling pathway activation of immune response positive regulation of antigen receptor-mediated signaling pathway positive regulation of signaling response to interleukin-6 cellular response to interleukin-6 response to cytokine cellular response to chemical stimulus cellular response to cytokine stimulus cellular response to organic substance biological process involved in interspecies interaction between organisms cellular response to lipoteichoic acid response to other organism response to lipoteichoic acid response to external stimulus cellular response to molecule of bacterial origin cellular response to oxygen-containing compound cellular response to biotic stimulus response to bacterium response to external biotic stimulus response to molecule of bacterial origin cellular defense response negative regulation of signaling negative regulation of biological process regulation of programmed cell death extrinsic apoptotic signaling pathway negative regulation of cell communication negative regulation of extrinsic apoptotic signaling pathway negative regulation of apoptotic signaling pathway negative regulation of cellular process negative regulation of response to stimulus negative regulation of programmed cell death regulation of apoptotic process cell death negative regulation of signal transduction regulation of extrinsic apoptotic signaling pathway apoptotic signaling pathway negative regulation of apoptotic process apoptotic process programmed cell death regulation of apoptotic signaling pathway response to organophosphorus response to purine-containing compound response to cAMP negative regulation of cellular metabolic process negative regulation of RNA biosynthetic process transcription by RNA polymerase II negative regulation of nucleobase-containing compound metabolic process regulation of transcription by RNA polymerase II negative regulation of DNA-templated transcription negative regulation of transcription by RNA polymerase II negative regulation of metabolic process negative regulation of cellular biosynthetic process negative regulation of macromolecule biosynthetic process negative regulation of RNA metabolic process negative regulation of macromolecule metabolic process negative regulation of biosynthetic process cellular aldehyde metabolic process acetaldehyde metabolic process cellular response to interleukin-1 response to interleukin-1 protein-DNA complex organization cellular component organization protein-containing complex organization chromatin organization cellular component organization or biogenesis G protein-coupled receptor signaling pathway neuropeptide signaling pathway positive regulation of canonical NF-kappaB signal transduction regulation of intracellular signal transduction positive regulation of intracellular signal transduction canonical NF-kappaB signal transduction regulation of canonical NF-kappaB signal transduction developmental process epithelium development epidermis development molting cycle process hair cycle animal organ development tissue development skin development skin epidermis development hair follicle development molting cycle anatomical structure development hair cycle process regulation of interleukin-12 production interleukin-12 production positive regulation of interleukin-12 production cell population proliferation positive regulation of cell population proliferation regulation of cell population proliferation negative regulation of miRNA transcription negative regulation of miRNA metabolic process cellular response to tumor necrosis factor response to tumor necrosis factor regulation of amide metabolic process amyloid precursor protein catabolic process positive regulation of protein metabolic process regulation of amyloid-beta formation positive regulation of amyloid-beta formation regulation of amyloid precursor protein catabolic process amyloid-beta metabolic process amide metabolic process amyloid precursor protein metabolic process amyloid-beta formation regulation of protein metabolic process positive regulation of amide metabolic process positive regulation of amyloid precursor protein catabolic process cellular response to nicotine response to nicotine response to hormone response to peptide hormone response to insulin regulation of non-canonical NF-kappaB signal transduction positive regulation of non-canonical NF-kappaB signal transduction cytokine-mediated signaling pathway interleukin-1-mediated signaling pathway inflammatory response regulation of developmental process angiogenesis regulation of vasculature development multicellular organism development tube morphogenesis regulation of anatomical structure morphogenesis system development blood vessel development regulation of multicellular organismal development blood vessel morphogenesis tube development negative regulation of blood vessel morphogenesis negative regulation of developmental process negative regulation of angiogenesis vasculature development circulatory system development negative regulation of vasculature development anatomical structure morphogenesis regulation of angiogenesis anatomical structure formation involved in morphogenesis negative regulation of multicellular organismal process negative regulation of post-translational protein modification regulation of protein sumoylation regulation of protein modification process peptidyl-lysine modification peptidyl-amino acid modification negative regulation of protein modification process protein modification process regulation of protein modification by small protein conjugation or removal negative regulation of protein sumoylation negative regulation of protein metabolic process negative regulation of protein modification by small protein conjugation or removal regulation of post-translational protein modification protein sumoylation macromolecule modification post-translational protein modification protein modification by small protein conjugation protein modification by small protein conjugation or removal positive regulation of cell adhesion regulation of cell adhesion positive regulation of leukocyte cell-cell adhesion positive regulation of leukocyte adhesion to vascular endothelial cell regulation of leukocyte adhesion to vascular endothelial cell leukocyte cell-cell adhesion positive regulation of cell-cell adhesion cell adhesion cell-cell adhesion leukocyte adhesion to vascular endothelial cell regulation of leukocyte cell-cell adhesion regulation of cell-cell adhesion response to ketone response to lipid response to progesterone response to steroid hormone response to light stimulus response to radiation response to abiotic stimulus response to UV response to UV-B defense response to symbiont defense response to other organism innate immune response interleukin-1 production regulation of interleukin-1 beta production positive regulation of interleukin-1 beta production positive regulation of interleukin-1 production regulation of interleukin-1 production interleukin-1 beta production cellular response to nitrogen compound insulin receptor signaling pathway regulation of cellular response to insulin stimulus cellular response to hormone stimulus regulation of insulin receptor signaling pathway cellular response to peptide hormone stimulus negative regulation of cellular response to insulin stimulus cellular response to organonitrogen compound negative regulation of insulin receptor signaling pathway cellular response to insulin stimulus positive regulation of response to biotic stimulus pattern recognition receptor signaling pathway innate immune response-activating signaling pathway regulation of innate immune response positive regulation of defense response activation of innate immune response cytoplasmic pattern recognition receptor signaling pathway regulation of defense response regulation of response to biotic stimulus regulation of response to external stimulus intracellular receptor signaling pathway positive regulation of response to external stimulus regulation of response to stress nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway nucleotide-binding oligomerization domain containing 2 signaling pathway positive regulation of innate immune response positive regulation of DNA-binding transcription factor activity positive regulation of NF-kappaB transcription factor activity positive regulation of molecular function regulation of molecular function regulation of DNA-binding transcription factor activity tumor necrosis factor-mediated signaling pathway negative regulation of protein catabolic process negative regulation of catabolic process regulation of catabolic process regulation of protein catabolic process defense response to virus response to virus positive regulation of transcription by RNA polymerase II hepaticobiliary system development gland development liver development response to acid chemical response to amino acid animal organ morphogenesis cell surface toll-like receptor signaling pathway innate immune response activating cell surface receptor signaling pathway cell surface pattern recognition receptor signaling pathway toll-like receptor 4 signaling pathway response to peptidoglycan cellular response to peptidoglycan regulation of vascular endothelial growth factor production vascular endothelial growth factor production positive regulation of vascular endothelial growth factor production interleukin-6 production positive regulation of interleukin-6 production regulation of interleukin-6 production positive regulation of nervous system development cellular developmental process cell development regulation of neurogenesis regulation of cell differentiation regulation of gliogenesis positive regulation of gliogenesis regulation of cell development regulation of nervous system development positive regulation of developmental process neurogenesis gliogenesis positive regulation of cell differentiation cell differentiation positive regulation of neurogenesis Schwann cell differentiation positive regulation of Schwann cell differentiation positive regulation of cell development regulation of glial cell differentiation peripheral nervous system development nervous system development positive regulation of glial cell differentiation regulation of Schwann cell differentiation glial cell differentiation cellular response to lipopolysaccharide response to lipopolysaccharide cellular response to lipid cellular response to oxidative stress cellular response to chemical stress cellular response to hydrogen peroxide response to reactive oxygen species response to inorganic substance response to hydrogen peroxide response to oxidative stress cellular response to reactive oxygen species cellular response to stress hormone-mediated signaling pathway prolactin signaling pathway regulation of inflammatory response response to muramyl dipeptide response to hepatocyte growth factor cellular response to hepatocyte growth factor stimulus negative regulation of intracellular signal transduction negative regulation of non-canonical NF-kappaB signal transduction response to angiotensin cellular response to angiotensin response to mechanical stimulus response to muscle stretch	intracellular anatomical structure cytoplasm cellular anatomical entity cytosol protein-containing complex transcription regulator complex membrane-bounded organelle intracellular organelle NF-kappaB complex organelle nucleus nuclear protein-containing complex intracellular membrane-bounded organelle protein-DNA complex intracellular anatomical structure cytoplasm cellular anatomical entity cytosol protein-containing complex transcription regulator complex membrane-bounded organelle intracellular organelle NF-kappaB complex organelle nucleus nuclear protein-containing complex intracellular membrane-bounded organelle protein-DNA complex intracellular non-membrane-bounded organelle chromatin chromosome non-membrane-bounded organelle synapse cell junction glutamatergic synapse NF-kappaB p50/p65 complex membrane-enclosed lumen intracellular organelle lumen nucleoplasm organelle lumen nuclear lumen
B, D	NF-KAPPA-B P50	DNA binding sequence-specific DNA binding sequence-specific double-stranded DNA binding transcription cis-regulatory region binding binding double-stranded DNA binding organic cyclic compound binding nucleic acid binding transcription regulatory region nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific transcription regulator activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription activator activity DNA binding sequence-specific DNA binding sequence-specific double-stranded DNA binding transcription cis-regulatory region binding binding double-stranded DNA binding organic cyclic compound binding nucleic acid binding transcription regulatory region nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific transcription regulator activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription activator activity identical protein binding protein binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription repressor activity transcription coregulator activity protein-macromolecule adaptor activity molecular adaptor activity RNA polymerase II transcription regulatory region sequence-specific DNA binding cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding protein-containing complex binding chromatin binding cytoskeletal protein binding actinin binding	cellular response to nitrogen compound cellular response to stimulus response to organic substance cellular response to dsRNA response to stimulus cellular response to organic cyclic compound response to dsRNA response to nitrogen compound cellular response to chemical stimulus response to chemical cellular process cellular response to organic substance response to organic cyclic compound cellular response to interleukin-17 cellular response to nitrogen compound cellular response to stimulus response to organic substance cellular response to dsRNA response to stimulus cellular response to organic cyclic compound response to dsRNA response to nitrogen compound cellular response to chemical stimulus response to chemical cellular process cellular response to organic substance response to organic cyclic compound cellular response to interleukin-17 response to interleukin-17 response to cytokine cellular response to cytokine stimulus developmental process multicellular organismal process mammary gland morphogenesis mammary gland development gland development animal organ development anatomical structure morphogenesis gland morphogenesis tissue remodeling anatomical structure development mammary gland involution animal organ morphogenesis apoptotic process cell death programmed cell death biological process involved in interspecies interaction between organisms immune response response to other organism defense response defense response to symbiont response to external stimulus response to biotic stimulus immune system process defense response to other organism response to stress innate immune response response to external biotic stimulus positive regulation of biological process RNA metabolic process positive regulation of miRNA metabolic process regulation of primary metabolic process nucleobase-containing compound metabolic process positive regulation of metabolic process regulation of RNA metabolic process organic substance metabolic process regulation of miRNA metabolic process positive regulation of macromolecule metabolic process regulation of nucleobase-containing compound metabolic process miRNA metabolic process regulation of biological process positive regulation of nucleobase-containing compound metabolic process biological regulation primary metabolic process regulation of macromolecule metabolic process nucleic acid metabolic process positive regulation of RNA metabolic process organic cyclic compound metabolic process ncRNA metabolic process metabolic process macromolecule metabolic process regulation of metabolic process regulation of cellular process signaling non-canonical NF-kappaB signal transduction intracellular signal transduction cell communication intracellular signaling cassette signal transduction negative regulation of small molecule metabolic process negative regulation of calcidiol 1-monooxygenase activity regulation of catalytic activity fat-soluble vitamin metabolic process regulation of hormone biosynthetic process regulation of lipid metabolic process negative regulation of biological process negative regulation of catalytic activity vitamin biosynthetic process negative regulation of lipid biosynthetic process negative regulation of cellular metabolic process vitamin D biosynthetic process negative regulation of hormone biosynthetic process regulation of small molecule metabolic process organic substance biosynthetic process small molecule metabolic process regulation of calcidiol 1-monooxygenase activity regulation of biological quality regulation of vitamin metabolic process hormone biosynthetic process negative regulation of monooxygenase activity negative regulation of steroid metabolic process regulation of alcohol biosynthetic process regulation of hormone levels negative regulation of oxidoreductase activity negative regulation of metabolic process cellular metabolic process regulation of cellular metabolic process negative regulation of cellular biosynthetic process negative regulation of vitamin metabolic process regulation of molecular function biosynthetic process organic cyclic compound biosynthetic process negative regulation of alcohol biosynthetic process negative regulation of lipid metabolic process negative regulation of hormone metabolic process regulation of steroid biosynthetic process cellular biosynthetic process regulation of hormone metabolic process organic hydroxy compound metabolic process steroid metabolic process lipid biosynthetic process alcohol metabolic process negative regulation of cellular process steroid biosynthetic process regulation of biosynthetic process small molecule biosynthetic process regulation of steroid metabolic process negative regulation of molecular function regulation of oxidoreductase activity vitamin D metabolic process regulation of vitamin D biosynthetic process hormone metabolic process vitamin metabolic process regulation of cellular biosynthetic process regulation of monooxygenase activity negative regulation of biosynthetic process organic hydroxy compound biosynthetic process fat-soluble vitamin biosynthetic process alcohol biosynthetic process negative regulation of steroid biosynthetic process regulation of lipid biosynthetic process negative regulation of vitamin D biosynthetic process lipid metabolic process organonitrogen compound metabolic process regulation of protein metabolic process protein metabolic process negative regulation of protein metabolic process negative regulation of macromolecule metabolic process response to interleukin-6 cellular response to interleukin-6 JNK cascade MAPK cascade negative regulation of RNA biosynthetic process DNA-templated transcription transcription by RNA polymerase II negative regulation of nucleobase-containing compound metabolic process regulation of transcription by RNA polymerase II negative regulation of DNA-templated transcription negative regulation of transcription by RNA polymerase II regulation of gene expression negative regulation of macromolecule biosynthetic process regulation of macromolecule biosynthetic process regulation of DNA-templated transcription negative regulation of RNA metabolic process RNA biosynthetic process nucleic acid biosynthetic process regulation of RNA biosynthetic process nucleobase-containing compound biosynthetic process gene expression macromolecule biosynthetic process positive regulation of macromolecule biosynthetic process positive regulation of transcription by RNA polymerase II positive regulation of DNA-templated transcription positive regulation of cellular metabolic process positive regulation of biosynthetic process positive regulation of cellular process positive regulation of RNA biosynthetic process positive regulation of cellular biosynthetic process cellular response to interleukin-1 response to interleukin-1 organonitrogen compound biosynthetic process carbohydrate derivative metabolic process positive regulation of hyaluronan biosynthetic process glycosaminoglycan biosynthetic process carbohydrate biosynthetic process hyaluronan biosynthetic process positive regulation of carbohydrate metabolic process mucopolysaccharide metabolic process glycosaminoglycan metabolic process regulation of hyaluronan biosynthetic process regulation of polysaccharide metabolic process hyaluronan metabolic process polysaccharide metabolic process regulation of carbohydrate metabolic process carbohydrate derivative biosynthetic process carbohydrate metabolic process polysaccharide biosynthetic process regulation of polysaccharide biosynthetic process aminoglycan metabolic process aminoglycan biosynthetic process regulation of carbohydrate biosynthetic process canonical NF-kappaB signal transduction immune response-regulating cell surface receptor signaling pathway positive regulation of response to stimulus immune response-activating signaling pathway immune response-regulating signaling pathway positive regulation of immune response regulation of immune system process positive regulation of immune system process cell surface receptor signaling pathway immune response-activating cell surface receptor signaling pathway B cell receptor signaling pathway regulation of response to stimulus regulation of immune response antigen receptor-mediated signaling pathway activation of immune response negative regulation of programmed cell death regulation of apoptotic process regulation of programmed cell death negative regulation of apoptotic process regulation of localization lipid storage lipid localization positive regulation of lipid localization maintenance of location localization regulation of lipid storage regulation of lipid localization macromolecule localization positive regulation of lipid storage regulation of defense response regulation of response to external stimulus negative regulation of inflammatory response negative regulation of response to stimulus regulation of inflammatory response negative regulation of response to external stimulus regulation of response to stress negative regulation of defense response inflammatory response response to lipid cellular response to lipopolysaccharide response to oxygen-containing compound cellular response to molecule of bacterial origin response to lipopolysaccharide cellular response to oxygen-containing compound cellular response to biotic stimulus response to bacterium cellular response to lipid response to molecule of bacterial origin regulation of developmental process cellular developmental process macrophage derived foam cell differentiation regulation of cell differentiation positive regulation of developmental process foam cell differentiation positive regulation of cell differentiation cell differentiation regulation of macrophage derived foam cell differentiation positive regulation of macrophage derived foam cell differentiation cellular response to tumor necrosis factor response to tumor necrosis factor regulation of DNA-templated transcription initiation transcription initiation at RNA polymerase II promoter positive regulation of DNA-templated transcription initiation positive regulation of transcription initiation by RNA polymerase II DNA-templated transcription initiation regulation of transcription initiation by RNA polymerase II negative regulation of sterol transport transport regulation of lipid transport negative regulation of transport organic hydroxy compound transport negative regulation of lipid localization sterol transport regulation of cholesterol transport regulation of sterol transport negative regulation of lipid transport regulation of transport organic substance transport negative regulation of cholesterol transport lipid transport establishment of localization cholesterol transport cellular response to nicotine response to nicotine response to mechanical stimulus response to abiotic stimulus cellular response to mechanical stimulus cellular response to abiotic stimulus cellular response to external stimulus cellular response to environmental stimulus regulation of interleukin-12 production negative regulation of interleukin-12 production cytokine production regulation of cytokine production regulation of multicellular organismal process interleukin-12 production negative regulation of cytokine production negative regulation of gene expression negative regulation of multicellular organismal process positive regulation of cell communication positive regulation of signal transduction regulation of canonical Wnt signaling pathway canonical Wnt signaling pathway regulation of signal transduction positive regulation of Wnt signaling pathway Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of signaling regulation of Wnt signaling pathway regulation of cell communication positive regulation of signaling response to angiotensin response to endogenous stimulus response to organonitrogen compound response to peptide hormone cellular response to peptide hormone stimulus cellular response to angiotensin cellular response to endogenous stimulus cellular response to organonitrogen compound response to hormone cellular response to hormone stimulus cellular response to virus response to virus response to muscle stretch antibacterial innate immune response defense response to bacterium	intracellular anatomical structure cytoplasm cellular anatomical entity cytosol protein-containing complex transcription regulator complex intracellular organelle protein-DNA complex organelle intracellular non-membrane-bounded organelle chromatin chromosome non-membrane-bounded organelle I-kappaB/NF-kappaB complex intracellular anatomical structure cytoplasm cellular anatomical entity cytosol protein-containing complex transcription regulator complex intracellular organelle protein-DNA complex organelle intracellular non-membrane-bounded organelle chromatin chromosome non-membrane-bounded organelle I-kappaB/NF-kappaB complex intracellular protein-containing complex membrane-bounded organelle NF-kappaB p50/p65 complex nucleus nuclear protein-containing complex intracellular membrane-bounded organelle NF-kappaB complex vesicle lumen intracellular vesicle membrane-enclosed lumen cytoplasmic vesicle lumen secretory granule lumen endomembrane system intracellular organelle lumen cytoplasmic vesicle organelle lumen specific granule lumen secretory granule secretory vesicle vesicle specific granule mitochondrion nucleoplasm nuclear lumen extracellular region
E, F	I-KAPPA-B-ALPHA	transcription factor binding RNA polymerase II-specific DNA-binding transcription factor binding protein binding binding DNA-binding transcription factor binding NF-kappaB binding molecular function inhibitor activity molecular function regulator activity transcription regulator inhibitor activity molecular sequestering activity protein sequestering activity nuclear localization sequence binding signal sequence binding peptide binding transcription factor binding RNA polymerase II-specific DNA-binding transcription factor binding protein binding binding DNA-binding transcription factor binding NF-kappaB binding molecular function inhibitor activity molecular function regulator activity transcription regulator inhibitor activity molecular sequestering activity protein sequestering activity nuclear localization sequence binding signal sequence binding peptide binding ubiquitin protein ligase binding ubiquitin-like protein ligase binding enzyme binding identical protein binding	positive regulation of cholesterol efflux regulation of localization transport positive regulation of sterol transport positive regulation of biological process regulation of lipid transport organic hydroxy compound transport localization regulation of cholesterol efflux sterol transport regulation of cholesterol transport positive regulation of cholesterol transport regulation of sterol transport regulation of biological process positive regulation of cholesterol efflux regulation of localization transport positive regulation of sterol transport positive regulation of biological process regulation of lipid transport organic hydroxy compound transport localization regulation of cholesterol efflux sterol transport regulation of cholesterol transport positive regulation of cholesterol transport regulation of sterol transport regulation of biological process regulation of transport organic substance transport biological regulation lipid localization lipid transport positive regulation of lipid localization establishment of localization positive regulation of lipid transport positive regulation of transport regulation of lipid localization macromolecule localization cholesterol transport cholesterol efflux protein localization regulation of cellular process regulation of primary metabolic process nucleobase-containing compound metabolic process negative regulation of NF-kappaB transcription factor activity DNA-templated transcription regulation of RNA metabolic process cellular macromolecule localization organic substance biosynthetic process regulation of nucleobase-containing compound metabolic process cellular metabolic process primary metabolic process regulation of cellular metabolic process maintenance of location regulation of molecular function organic cyclic compound metabolic process regulation of gene expression biosynthetic process regulation of DNA-binding transcription factor activity organic cyclic compound biosynthetic process metabolic process regulation of macromolecule biosynthetic process regulation of DNA-templated transcription macromolecule metabolic process regulation of metabolic process cytoplasmic sequestering of transcription factor maintenance of protein location cellular localization cellular biosynthetic process negative regulation of DNA-binding transcription factor activity RNA metabolic process RNA biosynthetic process cytoplasmic sequestering of NF-kappaB nucleic acid biosynthetic process organic substance metabolic process cytoplasmic sequestering of protein regulation of RNA biosynthetic process regulation of biosynthetic process negative regulation of molecular function regulation of macromolecule metabolic process nucleobase-containing compound biosynthetic process gene expression macromolecule biosynthetic process nucleic acid metabolic process regulation of cellular biosynthetic process cellular process developmental process regulation of developmental process cellular developmental process negative regulation of developmental process macrophage derived foam cell differentiation negative regulation of biological process regulation of cell differentiation negative regulation of macrophage derived foam cell differentiation foam cell differentiation cell differentiation negative regulation of cellular process regulation of macrophage derived foam cell differentiation negative regulation of cell differentiation organonitrogen compound metabolic process positive regulation of protein metabolic process regulation of protein metabolic process positive regulation of metabolic process positive regulation of macromolecule metabolic process protein metabolic process cellular response to stimulus response to stimulus signaling canonical NF-kappaB signal transduction intracellular signal transduction cell communication intracellular signaling cassette signal transduction immune response-regulating cell surface receptor signaling pathway positive regulation of response to stimulus immune response-activating signaling pathway immune response-regulating signaling pathway positive regulation of immune response regulation of immune system process positive regulation of immune system process cell surface receptor signaling pathway immune response-activating cell surface receptor signaling pathway immune response B cell receptor signaling pathway regulation of response to stimulus immune system process regulation of immune response antigen receptor-mediated signaling pathway activation of immune response regulation of defense response regulation of response to external stimulus defense response response to external stimulus regulation of inflammatory response positive regulation of response to external stimulus positive regulation of inflammatory response regulation of response to stress response to stress positive regulation of defense response inflammatory response positive regulation of response to biotic stimulus pattern recognition receptor signaling pathway response to biotic stimulus cell surface toll-like receptor signaling pathway innate immune response-activating signaling pathway response to other organism regulation of innate immune response defense response to other organism activation of innate immune response regulation of response to biotic stimulus biological process involved in interspecies interaction between organisms innate immune response activating cell surface receptor signaling pathway innate immune response response to external biotic stimulus cell surface pattern recognition receptor signaling pathway positive regulation of innate immune response defense response to symbiont toll-like receptor 4 signaling pathway negative regulation of signaling negative regulation of intracellular signal transduction negative regulation of canonical NF-kappaB signal transduction regulation of signal transduction negative regulation of cell communication regulation of intracellular signal transduction regulation of signaling negative regulation of response to stimulus negative regulation of signal transduction regulation of cell communication regulation of canonical NF-kappaB signal transduction response to organic substance response to chemical response to dsRNA response to nitrogen compound response to exogenous dsRNA response to organic cyclic compound apoptotic process cell death programmed cell death response to lipid cellular response to lipopolysaccharide lipopolysaccharide-mediated signaling pathway cellular response to biotic stimulus response to bacterium cellular response to organic substance response to oxygen-containing compound cellular response to molecule of bacterial origin response to lipopolysaccharide cellular response to oxygen-containing compound cellular response to chemical stimulus cellular response to lipid response to molecule of bacterial origin cytoplasmic pattern recognition receptor signaling pathway intracellular receptor signaling pathway nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway nucleotide-binding oligomerization domain containing 1 signaling pathway establishment of protein localization nitrogen compound transport nucleocytoplasmic transport nuclear transport intracellular transport protein localization to nucleus import into nucleus establishment of protein localization to organelle protein transport protein localization to organelle establishment of localization in cell protein import into nucleus intracellular protein transport lipid storage negative regulation of lipid localization regulation of lipid storage negative regulation of lipid storage non-canonical NF-kappaB signal transduction Notch signaling pathway negative regulation of Notch signaling pathway regulation of Notch signaling pathway nucleotide-binding oligomerization domain containing 2 signaling pathway response to cytokine cellular response to tumor necrosis factor cellular response to cytokine stimulus response to tumor necrosis factor positive regulation of macromolecule biosynthetic process regulation of DNA-templated transcription initiation transcription by RNA polymerase II transcription initiation at RNA polymerase II promoter regulation of transcription by RNA polymerase II positive regulation of nucleobase-containing compound metabolic process positive regulation of transcription by RNA polymerase II positive regulation of DNA-templated transcription initiation positive regulation of RNA metabolic process positive regulation of DNA-templated transcription positive regulation of cellular metabolic process positive regulation of biosynthetic process positive regulation of cellular process positive regulation of transcription initiation by RNA polymerase II DNA-templated transcription initiation positive regulation of RNA biosynthetic process regulation of transcription initiation by RNA polymerase II positive regulation of cellular biosynthetic process multicellular organismal process cell development regulation of cell development multicellular organism development anatomical structure development regulation of multicellular organismal process regulation of multicellular organismal development hemopoiesis regulation of myeloid cell differentiation negative regulation of myeloid cell differentiation myeloid cell differentiation regulation of hemopoiesis cytokine-mediated signaling pathway tumor necrosis factor-mediated signaling pathway cell population proliferation regulation of cell population proliferation response to organonitrogen compound response to muramyl dipeptide cellular response to cold cellular response to stress response to abiotic stimulus response to cold response to temperature stimulus cellular response to interleukin-1 interleukin-1-mediated signaling pathway response to interleukin-1 response to mechanical stimulus response to muscle stretch	intracellular anatomical structure cytoplasm cellular anatomical entity cytosol cell periphery plasma membrane membrane membrane-bounded organelle nucleus membrane-enclosed lumen intracellular membrane-bounded organelle intracellular organelle lumen intracellular organelle nucleoplasm intracellular anatomical structure cytoplasm cellular anatomical entity cytosol cell periphery plasma membrane membrane membrane-bounded organelle nucleus membrane-enclosed lumen intracellular membrane-bounded organelle intracellular organelle lumen intracellular organelle nucleoplasm organelle lumen organelle nuclear lumen I-kappaB/NF-kappaB complex protein-containing complex intracellular protein-containing complex

InterPro: Protein Family Classification InterPro Database Homepage

Chains	Accession	Name	Type
A, C	IPR033926	NFkappaB IPT domain	Domain
A, C	IPR013783	Immunoglobulin-like fold	Homologous Superfamily
A, C	IPR011539	Rel homology domain, DNA-binding domain	Domain
A, C	IPR030495	Transcription factor p65, RHD domain, N-terminal	Domain
A, C	IPR002909	IPT domain	Domain
A, C	IPR030492	Rel homology domain, conserved site	Conserved Site
A, C	IPR014756	Immunoglobulin E-set	Homologous Superfamily
A, C	IPR037059	Rel homology domain (RHD), DNA-binding domain superfamily	Homologous Superfamily
A, C	IPR008967	p53-like transcription factor, DNA-binding domain superfamily	Homologous Superfamily
A, C	IPR000451	NF-kappa-B/Dorsal	Family
A, C	IPR032397	Rel homology dimerisation domain	Domain
B, D	IPR030503	Nuclear factor NF-kappa-B, p105 subunit, Rel homology domain, N-terminal	Domain
B, D	IPR002909	IPT domain	Domain
B, D	IPR030492	Rel homology domain, conserved site	Conserved Site
B, D	IPR033926	NFkappaB IPT domain	Domain
B, D	IPR014756	Immunoglobulin E-set	Homologous Superfamily
B, D	IPR002110	Ankyrin repeat	Repeat
B, D	IPR000488	Death domain	Domain
B, D	IPR013783	Immunoglobulin-like fold	Homologous Superfamily
B, D	IPR037059	Rel homology domain (RHD), DNA-binding domain superfamily	Homologous Superfamily
B, D	IPR036770	Ankyrin repeat-containing domain superfamily	Homologous Superfamily
B, D	IPR008967	p53-like transcription factor, DNA-binding domain superfamily	Homologous Superfamily
B, D	IPR011539	Rel homology domain, DNA-binding domain	Domain
B, D	IPR011029	Death-like domain superfamily	Homologous Superfamily
B, D	IPR000451	NF-kappa-B/Dorsal	Family
B, D	IPR047096	Nuclear factor NF-kappa-B p105 subunit, death domain	Domain
B, D	IPR032397	Rel homology dimerisation domain	Domain
E, F	IPR036770	Ankyrin repeat-containing domain superfamily	Homologous Superfamily
E, F	IPR002110	Ankyrin repeat	Repeat

Pharos: Disease Associations Pharos Homepage Annotation

Chains	Drug Target	Associated Disease
A, C	Pharos: Q04206	renal cell carcinoma ulcerative colitis Barrett esophagus malignant colon neoplasm chronic kidney disease ependymoma cholestasis Neoplasms, Experimental extrahepatic cholestasis skin cancer breast carcinoma chromophobe renal cell carcinoma colitis diabetic peripheral angiopathy papillary renal cell carcinoma renal cell carcinoma ulcerative colitis Barrett esophagus malignant colon neoplasm chronic kidney disease ependymoma cholestasis Neoplasms, Experimental extrahepatic cholestasis skin cancer breast carcinoma chromophobe renal cell carcinoma colitis diabetic peripheral angiopathy papillary renal cell carcinoma amphetamine abuse hypertensive disorder sarcomatoid renal cell carcinoma brain cancer skin neoplasm type 2 diabetes mellitus collecting duct carcinoma cystitis alcoholic liver cirrhosis plasma cell myeloma brain ischemia mantle cell lymphoma clear cell renal carcinoma metabolic syndrome X colonic neoplasm acne ovarian cancer primary biliary cholangitis heart disease malignant glioma ureteral obstruction maturity-onset diabetes of the young oligodendroglioma astrocytic tumor renal carcinoma cancer medulloblastoma diabetic kidney disease osteoarthritis glioblastoma primitive neuroectodermal tumor atypical teratoid rhabdoid tumor benign colon neoplasm ischemia reperfusion injury schizophrenia breast cancer malignant ependymoma
B, D	Pharos: P19838	common variable immunodeficiency primary biliary cholangitis tubular adenocarcinoma granular cell carcinoma immunodeficiency, common variable, 12 brain ischemia chronic kidney disease type 2 diabetes mellitus Heat Stroke adenocarcinoma liver disease malignant colon neoplasm ulcerative colitis cribriform carcinoma of breast endogenous depression common variable immunodeficiency primary biliary cholangitis tubular adenocarcinoma granular cell carcinoma immunodeficiency, common variable, 12 brain ischemia chronic kidney disease type 2 diabetes mellitus Heat Stroke adenocarcinoma liver disease malignant colon neoplasm ulcerative colitis cribriform carcinoma of breast endogenous depression leukopenia lung cancer membranous glomerulonephritis alopecia ovarian cyst benign colon neoplasm systemic sclerosis corpus luteum cyst diabetes mellitus acute kidney failure primary hyperoxaluria tuberculosis colonic neoplasm cribriform carcinoma glioblastoma maturity-onset diabetes of the young allergic rhinitis attention deficit hyperactivity disorder, inattentive type
E, F	Pharos: P25963	psoriasis ectodermal dysplasia and immunodeficiency 2 gliosarcoma brain ischemia giant cell glioblastoma Hodgkins lymphoma Hodgkin's granuloma breast carcinoma malignant pancreatic neoplasm non-small cell lung carcinoma pancreatic ductal adenocarcinoma Hodgkin's lymphoma, lymphocytic depletion rheumatoid arthritis inflammatory bowel disease acute myeloid leukemia psoriasis ectodermal dysplasia and immunodeficiency 2 gliosarcoma brain ischemia giant cell glioblastoma Hodgkins lymphoma Hodgkin's granuloma breast carcinoma malignant pancreatic neoplasm non-small cell lung carcinoma pancreatic ductal adenocarcinoma Hodgkin's lymphoma, lymphocytic depletion rheumatoid arthritis inflammatory bowel disease acute myeloid leukemia lung adenocarcinoma arthritic joint disease cancer malignant tumor of nasopharynx cystic fibrosis ectodermal dysplasia and immunodeficiency 1 nasopharyngeal carcinoma oligodendroglioma hematologic disease pancreatic neoplasm Hodgkin's lymphoma, lymphocytic-histiocytic predominance sarcoidosis adrenal cortex carcinoma lung cancer astrocytic tumor malignant colon neoplasm breast cancer dermatomyositis myocardial ischemia nodular lymphocyte predominant Hodgkin lymphoma glioblastoma ovarian cancer hepatocellular carcinoma Pick disease pustulosis palmaris et plantaris Hodgkin's lymphoma, mixed cellularity Huntington disease subependymal giant cell astrocytoma lung carcinoma autoimmune disease malignant ependymoma coronary artery disease ectodermal dysplasia and immune deficiency myopathy