Gene Gene information from NCBI Gene database.
Entrez ID 1295
Gene name Collagen type VIII alpha 1 chain
Gene symbol COL8A1
Synonyms (NCBI Gene)
C3orf7
Chromosome 3
Chromosome location 3q12.1
Summary 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 heterotrime
miRNA miRNA information provided by mirtarbase database.
312
miRTarBase ID miRNA Experiments Reference
MIRT519131 hsa-miR-8485 HITS-CLIP 21572407
MIRT510127 hsa-miR-4789-3p HITS-CLIP 21572407
MIRT510125 hsa-miR-1295b-3p HITS-CLIP 21572407
MIRT510126 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT510124 hsa-miR-190a-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001935 Process Endothelial cell proliferation IEA
GO:0005515 Function Protein binding IPI 25416956, 29892012, 31515488, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
120251 2215 ENSG00000144810
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P27658
Protein name Collagen alpha-1(VIII) chain (Endothelial collagen) [Cleaved into: Vastatin]
Protein function Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also a component of the endothelia of blood vessels. Necessary for migration and proliferation of vascul
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 157 214 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 207 271 Collagen triple helix repeat (20 copies) Repeat
PF00386 C1q 617 741 C1q domain Domain
Tissue specificity 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 folli
Sequence
MAVLPGPLQLLGVLLTISLSSIRLIQAGAYYGIKPLPPQIPPQMPPQIPQYQPLGQQVPH
MPLAKDGLAMGKEMPHLQYGKEYPHLPQYMKEIQPAPRMGKEAVPKKGKEIPLASLRGEQ
GPRGEPGPRGPPGPPGLPGHGIPGIKGKPGPQGYPGVGKPGMPGMPGKPGAMGMPGAKGE
IGQKGEIGPMGIPGPQGPPGPHGLPG
IGKPGGPGLPGQPGPKGDRGPKGLPGPQGLRGPK
GDKGFGMPGAPGVKGPPGMHGPPGPVGLPGV
GKPGVTGFPGPQGPLGKPGAPGEPGPQGP
IGVPGVQGPPGIPGIGKPGQDGIPGQPGFPGGKGEQGLPGLPGPPGLPGIGKPGFPGPKG
DRGMGGVPGALGPRGEKGPIGAPGIGGPPGEPGLPGIPGPMGPPGAIGFPGPKGEGGIVG
PQGPPGPKGEPGLQGFPGKPGFLGEVGPPGMRGLPGPIGPKGEAGQKGVPGLPGVPGLLG
PKGEPGIPGDQGLQGPPGIPGIGGPSGPIGPPGIPGPKGEPGLPGPPGFPGIGKPGVAGL
HGPPGKPGALGPQGQPGLPGPPGPPGPPGPPAVMPPTPPPQGEYLPDMGLGIDGVKPPHA
YGAKKGKNGGPAYEMPAFTAELTAPFPPVGAPVKFNKLLYNGRQNYNPQTGIFTCEVPGV
YYFAYHVHCKGGNVWVALFKNNEPVMYTYDEYKKGFLDQASGSAVLLLRPGDRVFLQMPS
EQAAGLYAGQYVHSSFSGYLL
YPM
Sequence length 744
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein digestion and absorption   Collagen degradation
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Collagen chain trimerization
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
COL8A1-related disorder Likely benign; Benign rs1941987950, rs143399698, rs144518762, rs138724036, rs199818609 RCV003981749
RCV003941791
RCV003941554
RCV003951757
RCV003972153
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Psoriatic Associate 32326527
Carcinoma Hepatocellular Associate 32311840
Cardiomyopathy Dilated Associate 27936202
Choroidal Neovascularization Associate 27643879, 32730261
Cleft Lip Associate 23512105
Cleft Palate Associate 23512105
Corneal Neovascularization Associate 24498017
Dermatitis Atopic Associate 31275967
Diabetic Nephropathies Associate 36949528
Geographic Atrophy Associate 24498017