InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL3A1

Summary

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

Comments

Interactions

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
DNA-DNA	0
RNA-RNA	0
DNA-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

PDB ID

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
PF00093
PF00147
PF01391

PRINTS

PIRSF

SMART

SM00038
SM00214
SM00186

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P02461