Homo sapiens Protein: COL3A1
InnateDB Protein IDBP-77197.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL3A1
Protein Name collagen, type III, alpha 1
Synonyms EDS4A;
Species Homo sapiens
Ensembl Protein ENSP00000304408
InnateDB Gene IDBG-77195 (COL3A1)
Protein Structure
UniProt Annotation
Function Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of GPR56 in the developing brain and binding to GPR56 inhibits neuronal migration and activates the RhoA pathway by coupling GPR56 to GNA13 and possibly GNA12.
Subcellular Localization Secreted, extracellular space, extracellular matrix {ECO:0000255PROSITE-ProRule:PRU00793}.
Disease Associations Ehlers-Danlos syndrome 3 (EDS3) [MIM:130020]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. It is a form of Ehlers-Danlos syndrome characterized by marked joint hyperextensibility without skeletal deformity. {ECO:0000269PubMed:7833919}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]: The most severe form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Characterized by the joint and dermal manifestations as in other forms of the syndrome, characteristic facial features (acrogeria) in most patients, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. {ECO:0000269PubMed:10706896, ECO:0000269PubMed:10923041, ECO:0000269PubMed:11168790, ECO:0000269PubMed:12694234, ECO:0000269PubMed:12786757, ECO:0000269PubMed:1352273, ECO:0000269PubMed:1357232, ECO:0000269PubMed:1370809, ECO:0000269PubMed:1496983, ECO:0000269PubMed:1895316, ECO:0000269PubMed:2492273, ECO:0000269PubMed:2808425, ECO:0000269PubMed:7749417, ECO:0000269PubMed:7912131, ECO:0000269PubMed:8019562, ECO:0000269PubMed:8098182, ECO:0000269PubMed:8411057, ECO:0000269PubMed:8664902, ECO:0000269PubMed:8680408, ECO:0000269PubMed:8884076, ECO:0000269PubMed:8990011, ECO:0000269PubMed:9036918, ECO:0000269PubMed:9147870, ECO:0000269PubMed:9452103, ECO:0000269Ref.44, ECO:0000269Ref.49}. Note=The disease is caused by mutations affecting the gene represented in this entry.Aortic aneurysm, familial abdominal (AAA) [MIM:100070]: A common multifactorial disorder characterized by permanent dilation of the abdominal aorta, usually due to degenerative changes in the aortic wall. Histologically, AAA is characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. {ECO:0000269PubMed:2243125, ECO:0000269PubMed:2349939, ECO:0000269PubMed:8514866}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue Specificity
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 14 [view]
Protein-Protein 13 [view]
Protein-DNA 1 [view]
Protein-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005178 integrin binding
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0048407 platelet-derived growth factor binding
Biological Process
GO:0001501 skeletal system development
GO:0001568 blood vessel development
GO:0007160 cell-matrix adhesion
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007229 integrin-mediated signaling pathway
GO:0007411 axon guidance
GO:0007507 heart development
GO:0007568 aging
GO:0009314 response to radiation
GO:0009612 response to mechanical stimulus
GO:0018149 peptide cross-linking
GO:0021987 cerebral cortex development
GO:0022617 extracellular matrix disassembly
GO:0030168 platelet activation
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030574 collagen catabolic process
GO:0034097 response to cytokine
GO:0035025 positive regulation of Rho protein signal transduction
GO:0042060 wound healing
GO:0043206 extracellular fibril organization
GO:0043588 skin development
GO:0048565 digestive tract development
GO:0050777 negative regulation of immune response
GO:0071230 cellular response to amino acid stimulus
GO:2001223 negative regulation of neuron migration
Cellular Component
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005586 collagen type III
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix
Protein Structure and Domains
InterPro IPR000885 Fibrillar collagen, C-terminal
IPR001007 von Willebrand factor, type C
IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
IPR008160 Collagen triple helix repeat
PFAM PF01410
Post-translational Modifications
SwissProt P02461
PhosphoSite PhosphoSite-P02461
UniProt Splice Variant
Entrez Gene 1281
UniGene Hs.708235
RefSeq NP_000081
OMIM 120180
HPRD 00365
EMBL AC066694 AY016295 AY054301 BC028178 CH471058 GU143397 KC567894 M10615 M10793 M10794 M10795 M10796 M10797 M10798 M10799 M10800 M10801 M11134 M13146 M26939 M55603 M59227 M59312 S62925 S79877 X01655 X01742 X06700 X07240 X14420 X15332
GenPept AAA51998 AAA51999 AAA52000 AAA52001 AAA52002 AAA52003 AAA52004 AAA52040 AAA52041 AAB35615 AAB59383 AAD13937 AAH28178 AAL13167 AAY24164 ACZ58371 AGL34959 CAA25821 CAA25878 CAA25879 CAA29886 CAA30229 CAA32583 CAA33387 EAX10910 EAX10911