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
|
|
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 |
|
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
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
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 |
|
Modification |
|
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
|
|
|