Annotations: 5JW9

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

Chains	Domain Info	Class	Fold	Superfamily	Family	Domain	Species	Provenance Source (Version)
B	d5jw9b_	Coiled coil proteins	Antiparallel coiled-coil	occludin/ELL-like	automated matches	automated matches	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)
B	SCOP2 Family	Occludin/ELL domain	8085128	4000566	SCOP2 (2022-06-29)
B	SCOP2 Superfamily	Occludin/ELL-like	8085129	3000604	SCOP2 (2022-06-29)

Domain Annotation: ECOD Classification ECOD Database Homepage

Chains	Family Name	Domain Identifier	Architecture	Possible Homology	Homology	Topology	Family	Provenance Source (Version)
B	PF07303	e5jw9B1	A: alpha bundles	X: RNA polymerase II elongation factor ELL2 C-terminal domain (From Topology)	H: RNA polymerase II elongation factor ELL2 C-terminal domain (From Topology)	T: RNA polymerase II elongation factor ELL2 C-terminal domain	F: PF07303	ECOD (1.6)

Protein Family Annotation Pfam Database Homepage

Chains	Accession	Name	Description	Comments	Source
A	PF05110	AF-4 proto-oncoprotein N-terminal region (AF-4)	AF-4 proto-oncoprotein N-terminal region	-	Family
B	PF07303	Occludin homology domain (Occludin_ELL)	Occludin homology domain	This domain represents a conserved region approximately 100 residues long within eukaryotic occludin proteins and the RNA polymerase II elongation factor ELL. Occludin is an integral membrane protein that localises to tight junctions [1], while ELL i ...	This domain represents a conserved region approximately 100 residues long within eukaryotic occludin proteins and the RNA polymerase II elongation factor ELL. Occludin is an integral membrane protein that localises to tight junctions [1], while ELL is an elongation factor that can increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by polymerase at multiple sites along the DNA [2]. This shared domain is thought to mediate protein interactions [3].	Domain

Gene Ontology: Gene Product Annotation Gene Ontology Database Homepage

Chains	Polymer	Molecular Function	Biological Process	Cellular Component
A	AF4/FMR2 family member 4	-	regulation of biosynthetic process regulation of biological process regulation of cellular process cellular biosynthetic process cellular metabolic process biological regulation regulation of cellular metabolic process regulation of macromolecule metabolic process gene expression macromolecule biosynthetic process regulation of cellular biosynthetic process regulation of gene expression organic substance metabolic process biosynthetic process organic substance biosynthetic process regulation of biosynthetic process regulation of biological process regulation of cellular process cellular biosynthetic process cellular metabolic process biological regulation regulation of cellular metabolic process regulation of macromolecule metabolic process gene expression macromolecule biosynthetic process regulation of cellular biosynthetic process regulation of gene expression organic substance metabolic process biosynthetic process organic substance biosynthetic process regulation of macromolecule biosynthetic process metabolic process cellular process macromolecule metabolic process regulation of metabolic process developmental process spermatid development spermatid differentiation sexual reproduction cellular developmental process spermatogenesis reproductive process multicellular organismal reproductive process cell development cellular process involved in reproduction in multicellular organism developmental process involved in reproduction gamete generation male gamete generation cell differentiation anatomical structure development germ cell development cellular response to stimulus cellular response to stress response to stimulus response to stress response to endoplasmic reticulum stress	membrane-bounded organelle intracellular anatomical structure nucleus membrane-enclosed lumen cellular anatomical entity intracellular membrane-bounded organelle nucleolus intracellular organelle lumen intracellular organelle organelle lumen fibrillar center organelle intracellular non-membrane-bounded organelle nuclear lumen membrane-bounded organelle intracellular anatomical structure nucleus membrane-enclosed lumen cellular anatomical entity intracellular membrane-bounded organelle nucleolus intracellular organelle lumen intracellular organelle organelle lumen fibrillar center organelle intracellular non-membrane-bounded organelle nuclear lumen non-membrane-bounded organelle protein-containing complex protein-DNA complex euchromatin chromatin chromosome transcription elongation factor complex nuclear protein-containing complex super elongation complex nucleoplasm
B	RNA polymerase II elongation factor ELL2	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 cis-regulatory region sequence-specific DNA binding transcription regulatory region nucleic acid binding	transcription elongation by RNA polymerase II cellular biosynthetic process RNA metabolic process RNA biosynthetic process nucleobase-containing compound metabolic process DNA-templated transcription nucleic acid biosynthetic process organic substance metabolic process transcription by RNA polymerase II organic substance biosynthetic process cellular metabolic process primary metabolic process nucleobase-containing compound biosynthetic process gene expression transcription elongation by RNA polymerase II cellular biosynthetic process RNA metabolic process RNA biosynthetic process nucleobase-containing compound metabolic process DNA-templated transcription nucleic acid biosynthetic process organic substance metabolic process transcription by RNA polymerase II organic substance biosynthetic process cellular metabolic process primary metabolic process nucleobase-containing compound biosynthetic process gene expression macromolecule biosynthetic process nucleic acid metabolic process organic cyclic compound metabolic process DNA-templated transcription elongation biosynthetic process organic cyclic compound biosynthetic process metabolic process cellular process macromolecule metabolic process regulation of cellular process positive regulation of macromolecule biosynthetic process regulation of primary metabolic process positive regulation of metabolic process regulation of RNA metabolic process positive regulation of macromolecule metabolic process regulation of nucleobase-containing compound metabolic process regulation of transcription by RNA polymerase II regulation of DNA-templated transcription elongation regulation of biological process positive regulation of nucleobase-containing compound metabolic process regulation of transcription elongation by RNA polymerase II regulation of cellular metabolic process positive regulation of transcription by RNA polymerase II positive regulation of RNA metabolic process regulation of gene expression regulation of macromolecule biosynthetic process regulation of DNA-templated transcription regulation of metabolic process positive regulation of DNA-templated transcription positive regulation of transcription elongation by RNA polymerase II positive regulation of biological process positive regulation of cellular metabolic process positive regulation of biosynthetic process positive regulation of DNA-templated transcription, elongation positive regulation of cellular process regulation of RNA biosynthetic process regulation of biosynthetic process biological regulation regulation of macromolecule metabolic process regulation of cellular biosynthetic process positive regulation of RNA biosynthetic process positive regulation of cellular biosynthetic process snRNA metabolic process snRNA transcription by RNA polymerase II snRNA transcription	membrane-bounded organelle intracellular anatomical structure nucleus membrane-enclosed lumen intracellular membrane-bounded organelle cellular anatomical entity intracellular organelle lumen intracellular organelle nucleoplasm organelle lumen organelle nuclear lumen protein-containing complex transcription elongation factor complex membrane-bounded organelle intracellular anatomical structure nucleus membrane-enclosed lumen intracellular membrane-bounded organelle cellular anatomical entity intracellular organelle lumen intracellular organelle nucleoplasm organelle lumen organelle nuclear lumen protein-containing complex transcription elongation factor complex nuclear protein-containing complex

InterPro: Protein Family Classification InterPro Database Homepage

Chains	Accession	Name	Type
A	IPR007797	AF4/FMR2 family	Family
A	IPR043640	AF4/FMR2, C-terminal homology domain	Domain
A	IPR043639	AF4 interaction motif	Conserved Site
B	IPR019464	RNA polymerase II elongation factor ELL, N-terminal	Domain
B	IPR031176	ELL/occludin family	Family
B	IPR042065	E3 ubiquitin-protein ligase ELL-like	Homologous Superfamily
B	IPR036390	Winged helix DNA-binding domain superfamily	Homologous Superfamily
B	IPR010844	Occludin homology domain	Domain

Pharos: Disease Associations Pharos Homepage Annotation

Chains	Drug Target	Associated Disease
A	Pharos: Q9UHB7	cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome obesity disorder Facies lung disease malignant glioma medulloblastoma non-small cell lung carcinoma osteosarcoma astrocytic tumor pancreatic intraductal papillary-mucinous carcinoma breast cancer large cell medulloblastoma malignant mesothelioma acquired metabolic disease ovarian cancer cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome obesity disorder Facies lung disease malignant glioma medulloblastoma non-small cell lung carcinoma osteosarcoma astrocytic tumor pancreatic intraductal papillary-mucinous carcinoma breast cancer large cell medulloblastoma malignant mesothelioma acquired metabolic disease ovarian cancer atypical teratoid rhabdoid tumor pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia cancer genetic endocrine growth disease intellectual disability lung cancer malignant ependymoma malignant pancreatic neoplasm myopathy oligodendroglioma adenoma pancreatic ductal adenocarcinoma congenital heart disease glioblastoma juvenile dermatomyositis
B	Pharos: O00472	MALT lymphoma non-small cell lung carcinoma ovarian cancer Pick disease primitive neuroectodermal tumor adrenal cortex carcinoma subependymal giant cell astrocytoma B-cell chronic lymphocytic leukemia congestive heart failure ulcerative colitis glioblastoma interstitial lung disease lung adenocarcinoma malignant glioma medulloblastoma MALT lymphoma non-small cell lung carcinoma ovarian cancer Pick disease primitive neuroectodermal tumor adrenal cortex carcinoma subependymal giant cell astrocytoma B-cell chronic lymphocytic leukemia congestive heart failure ulcerative colitis glioblastoma interstitial lung disease lung adenocarcinoma malignant glioma medulloblastoma oligodendroglioma pancreatic ductal adenocarcinoma pituitary cancer Sjogren syndrome astrocytic tumor tuberculosis breast cancer Crohn disease hepatocellular carcinoma invasive ductal breast carcinoma lung carcinoma malignant pancreatic neoplasm myopathy osteosarcoma pancreatic intraductal papillary-mucinous carcinoma plasma cell myeloma spina bifida atypical teratoid rhabdoid tumor chronic obstructive pulmonary disease type 2 diabetes mellitus exocrine pancreatic carcinoma interstitial cystitis large cell medulloblastoma malignant ependymoma

RCSB PDB Core Operations are funded by the U.S. National Science Foundation (DBI-2321666), the US Department of Energy (DE-SC0019749), and the National Cancer Institute, National Institute of Allergy and Infectious Diseases, and National Institute of General Medical Sciences of the National Institutes of Health under grant R01GM133198.