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Gene: COL4A1 (collagen type IV alpha 1 chain) Homo sapiens
Symbol: COL4A1
Name: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: arresten; BSVD; BSVD1; 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; collagen, type IV, alpha 1; HANAC; ICH; PADMAL; POREN1; RATOR
Mus musculus (house mouse) : Col4a1 (collagen, type IV, alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col4a1 (collagen type IV alpha 1 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col4a1 (collagen type IV alpha 1 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL4A1 (collagen type IV alpha 1 chain)
Canis lupus familiaris (dog) : COL4A1 (collagen type IV alpha 1 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col4a1 (collagen type IV alpha 1 chain)
Sus scrofa (pig) : COL4A1 (collagen type IV alpha 1 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh3813110,148,963 - 110,307,157 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3713110,801,310 - 110,959,496 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3613109,599,311 - 109,757,497 (-)NCBINCBI36hg18NCBI36
Build 3413109,599,311 - 109,757,459NCBI
Celera1391,645,588 - 91,803,669 (-)NCBI
Cytogenetic Map13q34NCBI
HuRef1391,400,456 - 91,558,957 (-)NCBIHuRef
CHM1_113110,770,023 - 110,927,935 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on COL4A1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1316170
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-09-17
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.