COL4A1, Official Symbol COL4A1provided by HGNC Official Full Name collagen type IV alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2202 See related Ensembl:ENSG00000187498 MIM:120130; AllianceGenome:HGNC:2202 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BSVD; BSVD1; RATOR; PADMAL; COL4A1s Summary This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Biased expression in placenta (RPKM 204.1), fat (RPKM 72.2) and 9 other tissues See more Orthologs mouse all