Homo sapiens Protein: COL8A1
Summary
InnateDB Protein IDBP-47124.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL8A1
Protein Name collagen, type VIII, alpha 1
Synonyms C3orf7;
Species Homo sapiens
Ensembl Protein ENSP00000273342
InnateDB Gene IDBG-47120 (COL8A1)
Protein Structure
UniProt Annotation
Function Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis. {ECO:0000269PubMed:11708810}.Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell proliferation and causes cell apoptosis. {ECO:0000269PubMed:11708810}.
Subcellular Localization Secreted, extracellular space, extracellular matrix, basement membrane.
Disease Associations
Tissue Specificity Expressed primarily in the subendothelium of large blood vessels. Also expressed in arterioles and venules in muscle, heart, kidney, spleen, umbilical cord, liver and lung and is also found in connective tissue layers around hair follicles, around nerve bundles in muscle, in the dura of the optic nerve, in cornea and sclera, and in the perichondrium of cartilaginous tissues. In the kidney, expressed in mesangial cells, glomerular endothelial cells, and tubular epithelial cells. Also expressed in mast cells, and in astrocytes during the repair process. Expressed in Descemet's membrane. Specifically expressed in peritoneal fibroblasts and mesothelial cells. {ECO:0000269PubMed:10686422, ECO:0000269PubMed:2376131, ECO:0000269PubMed:7734329}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0001525 angiogenesis
GO:0007155 cell adhesion
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030574 collagen catabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005591 collagen type VIII
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR001073 Complement C1q protein
IPR008160 Collagen triple helix repeat
IPR008983 Tumour necrosis factor-like domain
PFAM PF00386
PF01391
PRINTS PR00007
PIRSF
SMART SM00110
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P27658
PhosphoSite PhosphoSite-P27658
TrEMBL C9JTN9
UniProt Splice Variant
Entrez Gene 1295
UniGene Hs.740617
RefSeq NP_065084
HUGO HGNC:2215
OMIM 120251
CCDS CCDS2934
HPRD 00372
IMGT
EMBL AC055723 AC069222 BC013581 BT009917 CH471052 X57527
GenPept AAH13581 AAP88919 CAA40748 EAW79837 EAW79838 EAW79840