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COL4A1, collagen type IV alpha 1 chain

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COL4A1, collagen type IV alpha 1 chain

  • 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]

  • Gene Synonyms (collagen alpha-1(IV) chain, COL4A1 NC1 domain, arresten, collagen IV, alpha-1 polypeptide, collagen of basement membrane, alpha-1 chain, BSVD, BSVD1, COL4A1s, PADMAL, RATOR,)
  • NCBI Gene ID: 1282
  • Species: Homo sapiens (Human)
  • UNIPROT ID#>>F5H5K0
    UNIPROT ID#>>P02462
    UNIPROT ID#>>A5PKV2
  • View the NCBI Database for this Gene »

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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