Gene: COL4A1 (collagen, type IV, alpha 1) Homo sapiens
Symbol: COL4A1
Name: collagen, type IV, alpha 1
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; 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; HANAC; ICH; OTTHUMP00000018698; OTTHUMP00000194462; POREN1
Orthologs:
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Genome Assembly GRCh3813110,148,963 - 110,307,149-NCBI
Human Alternate Assembly CHM1_113110,770,028 - 110,927,927-NCBI
Human Genome Assembly HuRef1391,400,456 - 91,558,957-NCBI
Human Genome Assembly GRCh3713110,801,310 - 110,959,496-NCBI
Human Celera Assembly1391,645,588 - 91,803,669-NCBI
Human Genome Assembly Build 3613109,599,311 - 109,757,497-NCBI
Human Cytogenetic Map13q34 NCBI
Human Genome Assembly13109,599,311 - 109,757,459 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


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

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on COL4A1
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 1316170
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2015-01-20
Status: ACTIVE