4IHB

X-RAY STRUCTURE OF THE canonical C2A DOMAIN FROM HUMAN DYSFERLIN

External Resource: Annotation

Domain Annotation: SCOP2 Classification
Domain Annotation: ECOD Classification
Domain Annotation: CATH
Protein Family Annotation
Gene Ontology: Gene Product Annotation
InterPro: Protein Family Classification
Pharos: Disease Associations

Domain Annotation: SCOP2 Classification SCOP2 Database Homepage

Chains	Type	Family Name	Domain Identifier	Family Identifier	Provenance Source (Version)
A	SCOP2 Family	PLC-like (P variant)	8086456	4002218	SCOP2 (2022-06-29)
A	SCOP2 Superfamily	C2 domain (calcium/lipid-binding domain calb)	8086457	3000965	SCOP2 (2022-06-29)
B	SCOP2B Superfamily	C2 domain (calcium/lipid-binding domain calb)	8086457	3000965	SCOP2B (2022-06-29)
C	SCOP2B Superfamily	C2 domain (calcium/lipid-binding domain calb)	8086457	3000965	SCOP2B (2022-06-29)
D	SCOP2B Superfamily	C2 domain (calcium/lipid-binding domain calb)	8086457	3000965	SCOP2B (2022-06-29)
E	SCOP2B Superfamily	C2 domain (calcium/lipid-binding domain calb)	8086457	3000965	SCOP2B (2022-06-29)
F	SCOP2B Superfamily	C2 domain (calcium/lipid-binding domain calb)	8086457	3000965	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	C2_1	e4ihbA1	A: beta sandwiches	X: Immunoglobulin-like beta-sandwich	H: C2 domain (From Topology)	T: C2 domain	F: C2_1	ECOD (1.6)
B	C2_1	e4ihbB1	A: beta sandwiches	X: Immunoglobulin-like beta-sandwich	H: C2 domain (From Topology)	T: C2 domain	F: C2_1	ECOD (1.6)
C	C2_1	e4ihbC1	A: beta sandwiches	X: Immunoglobulin-like beta-sandwich	H: C2 domain (From Topology)	T: C2 domain	F: C2_1	ECOD (1.6)
D	C2_1	e4ihbD1	A: beta sandwiches	X: Immunoglobulin-like beta-sandwich	H: C2 domain (From Topology)	T: C2 domain	F: C2_1	ECOD (1.6)
E	C2_1	e4ihbE1	A: beta sandwiches	X: Immunoglobulin-like beta-sandwich	H: C2 domain (From Topology)	T: C2 domain	F: C2_1	ECOD (1.6)
F	C2_1	e4ihbF1	A: beta sandwiches	X: Immunoglobulin-like beta-sandwich	H: C2 domain (From Topology)	T: C2 domain	F: C2_1	ECOD (1.6)

Domain Annotation: CATH CATH Database Homepage

Chain	Domain	Class	Architecture	Topology	Homology	Provenance Source (Version)
A	2.60.40.150	Mainly Beta	Sandwich	Immunoglobulin-like	C2 domain	CATH (4.3.0)
B	2.60.40.150	Mainly Beta	Sandwich	Immunoglobulin-like	C2 domain	CATH (4.3.0)
C	2.60.40.150	Mainly Beta	Sandwich	Immunoglobulin-like	C2 domain	CATH (4.3.0)
D	2.60.40.150	Mainly Beta	Sandwich	Immunoglobulin-like	C2 domain	CATH (4.3.0)
E	2.60.40.150	Mainly Beta	Sandwich	Immunoglobulin-like	C2 domain	CATH (4.3.0)
F	2.60.40.150	Mainly Beta	Sandwich	Immunoglobulin-like	C2 domain	CATH (4.3.0)

Protein Family Annotation Pfam Database Homepage

Chains	Accession	Name	Description	Comments	Source
A, B, C, D, E A, B, C, D, E, F	PF00168	C2 domain (C2)	C2 domain	-	Domain

Gene Ontology: Gene Product Annotation Gene Ontology Database Homepage

Chains	Polymer	Molecular Function	Biological Process	Cellular Component
A, B, C, D, E A, B, C, D, E, F	Dysferlin	cation binding ion binding binding calcium ion binding metal ion binding small molecule binding phospholipid binding lipid binding calcium-dependent phospholipid binding	regulation of localization cellular localization regulation of cellular process transport modulation of chemical synaptic transmission signaling cell communication localization synaptic signaling regulation of secretion by cell secretion by cell signal release establishment of localization in cell trans-synaptic signaling regulation of localization cellular localization regulation of cellular process transport modulation of chemical synaptic transmission signaling cell communication localization synaptic signaling regulation of secretion by cell secretion by cell signal release establishment of localization in cell trans-synaptic signaling regulation of biological process regulation of signaling neurotransmitter secretion regulation of transport secretion regulation of neurotransmitter transport biological regulation export from cell cell-cell signaling neurotransmitter transport establishment of localization regulation of secretion chemical synaptic transmission signal release from synapse regulation of trans-synaptic signaling regulation of neurotransmitter secretion anterograde trans-synaptic signaling regulation of cell communication cellular process multicellular organismal process response to stimulus macrophage activation involved in immune response immune response cell activation cell activation involved in immune response myeloid cell activation involved in immune response myeloid leukocyte activation leukocyte activation immune effector process macrophage activation immune system process leukocyte activation involved in immune response import into cell regulation of cellular component organization negative regulation of biological process negative regulation of transport negative regulation of endocytosis vesicle-mediated transport cellular component organization negative regulation of phagocytosis negative regulation of cellular process phagocytosis cellular component organization or biogenesis regulation of endocytosis negative regulation of cellular component organization regulation of phagocytosis regulation of vesicle-mediated transport endocytosis monocyte activation monocyte activation involved in immune response	cell periphery sarcolemma plasma membrane membrane T-tubule cellular anatomical entity extracellular exosome membrane-bounded organelle extracellular vesicle extracellular organelle extracellular region organelle extracellular space vesicle cell periphery sarcolemma plasma membrane membrane T-tubule cellular anatomical entity extracellular exosome membrane-bounded organelle extracellular vesicle extracellular organelle extracellular region organelle extracellular space vesicle extracellular membrane-bounded organelle intracellular anatomical structure intracellular organelle centrosome microtubule organizing center cytoskeleton centriolar satellite intracellular non-membrane-bounded organelle microtubule cytoskeleton non-membrane-bounded organelle intracellular vesicle intracellular membrane-bounded organelle cytoplasmic vesicle cytoplasm endocytic vesicle cytoplasmic vesicle membrane vesicle membrane organelle membrane early endosome endosome endomembrane system synapse transport vesicle membrane presynapse bounding membrane of organelle synaptic vesicle synaptic vesicle membrane cell junction transport vesicle exocytic vesicle membrane secretory vesicle exocytic vesicle late endosome

InterPro: Protein Family Classification InterPro Database Homepage

Chains	Accession	Name	Type
A, B, C, D, E A, B, C, D, E, F	IPR037723	Ferlin, fourth C2 domain	Domain
A, B, C, D, E A, B, C, D, E, F	IPR012560	Ferlin A-domain	Domain
A, B, C, D, E A, B, C, D, E, F	IPR006614	Peroxin/Ferlin domain	Domain
A, B, C, D, E A, B, C, D, E, F	IPR037721	Ferlin family	Family
A, B, C, D, E A, B, C, D, E, F	IPR037724	Ferlin, fifth C2 domain	Domain
A, B, C, D, E A, B, C, D, E, F	IPR037722	Ferlin, third C2 domain	Domain
A, B, C, D, E A, B, C, D, E, F	IPR012968	FerIin domain	Domain
A, B, C, D, E A, B, C, D, E, F	IPR000008	C2 domain	Domain
A, B, C, D, E A, B, C, D, E, F	IPR012561	Ferlin B-domain	Domain
A, B, C, D, E A, B, C, D, E, F	IPR037725	Ferlin, sixth C2 domain	Domain
A, B, C, D, E A, B, C, D, E, F	IPR032362	Ferlin, C-terminal domain	Domain
A, B, C, D, E A, B, C, D, E, F	IPR035892	C2 domain superfamily	Homologous Superfamily
A, B, C, D, E A, B, C, D, E, F	IPR037726	Ferlin, first C2 domain	Domain
A, B, C, D, E A, B, C, D, E, F	IPR037720	Ferlin, second C2 domain	Domain

Pharos: Disease Associations Pharos Homepage Annotation

Chains	Drug Target	Associated Disease
A, B, C, D, E A, B, C, D, E, F	Pharos: O75923	limb-girdle muscular dystrophy distal myopathy with anterior tibial onset autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Miyoshi myopathy Liver Cirrhosis, Experimental myopathy juvenile idiopathic arthritis muscular dystrophy osteosarcoma tuberculosis arthrogryposis congenital muscular dystrophy diabetes mellitus interstitial cystitis limb-girdle muscular dystrophy distal myopathy with anterior tibial onset autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Miyoshi myopathy Liver Cirrhosis, Experimental myopathy juvenile idiopathic arthritis muscular dystrophy osteosarcoma tuberculosis arthrogryposis congenital muscular dystrophy diabetes mellitus interstitial cystitis MALT lymphoma muscle tissue disease rhabdomyolysis distal myopathy lung carcinoma muscular disease rheumatoid arthritis breast cancer

RCSB PDB Core Operations are funded by the National Science Foundation (DBI-1832184), 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.