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Gene : COL4A1 Homo sapiens

Name  ? collagen type IV alpha 1 chain Cytological Location  13q34
Brief Description  collagen type IV alpha 1 chain
Description  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]
  • synonyms:
  • OTTHUMG00000017342,
  • COL4A1s,
  • J04217,
  • NM_001303110,
  • HGNC:2202,
  • BSVD,
  • PADMAL,
  • RATOR,
  • COL4A1,
  • BSVD1,
  • uc001vqw.4,
  • collagen, type IV, alpha 1
  • identifiers:
  • 1282,
  • ENSG00000187498,
  • COL4A1

Genome feature

Region: gene ? Length: 158195  
Location: 13:110148963-110307157 reverse strand Cyto location: 13q34


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

5 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

149 SN Ps

5 Cross References

20 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results