| 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 |
