Collagen, type VIII, alpha 1

Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.^[5][6]

COL8A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1O91
Identifiers
Aliases	COL8A1, C3orf7, collagen type VIII alpha 1, collagen type VIII alpha 1 chain
External IDs	OMIM: 120251; MGI: 88463; HomoloGene: 22423; GeneCards: COL8A1; OMA:COL8A1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q12.1 Start 99,638,475 bp[1] End 99,799,226 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 C1.1 Start 57,444,621 bp[2] End 57,575,100 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in visceral pleura retinal pigment epithelium right coronary artery popliteal artery tibial arteries sural nerve parietal pleura germinal epithelium thoracic aorta ascending aorta Top expressed in pineal gland retinal pigment epithelium calvaria vestibular membrane of cochlear duct Epithelium of choroid plexus choroid plexus of fourth ventricle skin of external ear body of femur stroma of bone marrow vestibular sensory epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding extracellular matrix structural constituent extracellular matrix structural constituent conferring tensile strength Cellular component extracellular matrix basement membrane collagen type VIII trimer collagen endoplasmic reticulum lumen extracellular exosome extracellular region extracellular space collagen-containing extracellular matrix Biological process collagen catabolic process cell adhesion extracellular matrix organization epithelial cell proliferation endodermal cell differentiation camera-type eye morphogenesis angiogenesis positive regulation of cell-substrate adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1295 12837 Ensembl ENSG00000144810 ENSMUSG00000068196 UniProt P27658 Q00780 RefSeq (mRNA) NM_001850 NM_020351 NM_007739 RefSeq (protein) NP_001841 NP_065084 NP_031765 Location (UCSC) Chr 3: 99.64 – 99.8 Mb Chr 16: 57.44 – 57.58 Mb PubMed search [3] [4]
Wikidata
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This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same isoform have been observed.^[6]