Immunogen sequence: GFLVTRHSQT IDDPQCPSGT KILYHGYSLL YVQGNERAHG QDLGTAGSCL RKFSTMPFLF CNINNVCNFA SRNDYSYWLS TPEPMPMSMA PITGENIRPF ISRCAVCEAP AMVMAVHSQT IQIPPCPSGW SSLWIGYSFV MHTSAGAEGS GQALASPGSC LEEFRSAPFI ECHGRGTCNY YANAYSFWLA TIERSEMFKK PTPSTLKAGE LRTHVSRCQV CMRRT; Positive Samples: U-87 MG; Cellular Location: basement membrane, extracellular matrix, extracellular space
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.
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Protein Aliases: Arresten; COL4A1 NC1 domain; Collagen alpha-1(IV) chain; collagen IV, alpha-1 polypeptide; collagen of basement membrane, alpha-1 chain; collagen, type IV, alpha 1
Gene Aliases: BSVD; COL4A1; RATOR
UniProt ID: (Human) P02462
Entrez Gene ID: (Human) 1282