Background: | 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. |
UniProt Protein Function: | Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. |
NCBI 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] |
UniProt Code: | P02462 |
NCBI GenInfo Identifier: | 125987809 |
NCBI Gene ID: | 1282 |
NCBI Accession: | P02462.3 |
UniProt Secondary Accession: | P02462,Q1P9S9, Q5VWF6, Q86X41, Q8NF88, Q9NYC5, A7E2W4 B1AM70, |
UniProt Related Accession: | P02462 |
Molecular Weight: | 127,981 Da |
NCBI Full Name: | Collagen alpha-1(IV) chain |
NCBI Synonym Full Names: | collagen type IV alpha 1 chain |
NCBI Official Symbol: | COL4A1 |
NCBI Official Synonym Symbols: | BSVD; RATOR |
NCBI Protein Information: | collagen alpha-1(IV) chain |
UniProt Protein Name: | Collagen alpha-1(IV) chain |
Protein Family: | Collagen |
UniProt Gene Name: | COL4A1 |
UniProt Entry Name: | CO4A1_HUMAN |