Homo sapiens Gene: COL8A1
Summary
InnateDB Gene IDBG-47120.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL8A1
Gene Name collagen, type VIII, alpha 1
Synonyms C3orf7;
Species Homo sapiens
Ensembl Gene ENSG00000144810
Encoded Proteins
collagen, type VIII, alpha 1
collagen, type VIII, alpha 1
collagen, type VIII, alpha 1
collagen, type VIII, alpha 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:99638475-99799226
Strand Forward strand
Band q12.1
Transcripts
ENST00000261037 ENSP00000261037
ENST00000273342 ENSP00000273342
ENST00000452013 ENSP00000387589
ENST00000463753
ENST00000483969
ENST00000474648
ENST00000462604
ENST00000621757 ENSP00000482679
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:0010811 positive regulation of cell-substrate adhesion
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030574 collagen catabolic process
GO:0048593 camera-type eye morphogenesis
GO:0050673 epithelial cell proliferation
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
Degradation of the extracellular matrix pathway
Integrin cell surface interactions pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen degradation pathway
Collagen formation pathway
KEGG
INOH
Integrin signaling pathway pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL C9JTN9
UniProt Splice Variant
Entrez Gene 1295
UniGene
RefSeq NM_001850 NM_020351
HUGO HGNC:2215
OMIM 120251
CCDS CCDS2934
HPRD
IMGT
EMBL AC055723 AC069222
GenPept
RNA Seq Atlas 1295