COL4A1

GENE INFORMATION

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Gene name

COL4A1

Synonyms

Description

Collagen, type IV, alpha 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

13

Cytoband

q34

Chromosome location (bp)

110148963 - 110307149

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000187498 (version 78.38)

Entrez gene

1282

UniProt

P02462 (UniProt - Evidence at protein level)

neXtProt

NX_P02462

Antibodypedia

COL4A1 antibodies
 

PROTEIN VIEW

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COL4A1-001
 
COL4A1-005
 
COL4A1-006
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL4A1-001 ENSP00000364979
ENST00000375820
P02462
Show all »
Show » Show » 1669 160.6 Yes 0
COL4A1-005 ENSP00000443348
ENST00000543140
F5H5K0
Show all »
Show » 519 50.2 Yes 0
COL4A1-006 ENSP00000478222
ENST00000615732
Show » 223 21.2 No 0