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; RATOR
Orthologs:
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Genome Assembly GRCh3813110,148,958 - 110,307,157-NCBI
Human Alternate Assembly CHM1_113110,770,023 - 110,927,935-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)
Launch JBrowse : 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)
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants