InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL5A1

Summary

InnateDB Protein

IDBP-91763.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL5A1

Protein Name

collagen, type V, alpha 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000360882

InnateDB Gene

IDBG-91757 (COL5A1)

Protein Structure

UniProt Annotation

Function

Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000255PROSITE-ProRule:PRU00793}.

Disease Associations

Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome. {ECO:0000269PubMed:10602121, ECO:0000269PubMed:15580559, ECO:0000269PubMed:18972565, ECO:0000269PubMed:9042913}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ehlers-Danlos syndrome 2 (EDS2) [MIM:130010]: Mild form of classic Ehlers-Danlos syndrome. {ECO:0000269PubMed:11992482}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	10 [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:0008201	heparin binding
GO:0043394	proteoglycan binding
GO:0046872	metal ion binding
GO:0048407	platelet-derived growth factor binding

Biological Process

GO:0001568	blood vessel development
GO:0003007	heart morphogenesis
GO:0007155	cell adhesion
GO:0007411	axon guidance
GO:0016477	cell migration
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030199	collagen fibril organization
GO:0030574	collagen catabolic process
GO:0032964	collagen biosynthetic process
GO:0035313	wound healing, spreading of epidermal cells
GO:0035989	tendon development
GO:0043206	extracellular fibril organization
GO:0043588	skin development
GO:0045112	integrin biosynthetic process
GO:0048592	eye morphogenesis
GO:0051128	regulation of cellular component organization

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005588	collagen type V
GO:0005604	basement membrane
GO:0005788	endoplasmic reticulum lumen
GO:0031012	extracellular matrix
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000885 Fibrillar collagen, C-terminal
IPR001791 Laminin G domain
IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
IPR008160 Collagen triple helix repeat
IPR008985 Concanavalin A-like lectin/glucanases superfamily

PFAM

PF01410
PF00054
PF02210
PF00147
PF01391

PRINTS

PIRSF

SMART

SM00038
SM00210
SM00282
SM00186

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P20908