Gene: COL4A1 (collagen type IV alpha 1 chain) Homo sapiens
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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; 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; OTTHUMP00000018698; OTTHUMP00000194462; POREN1; RATOR
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813110,148,958 - 110,307,157 (-)NCBIGRCh38hg38GRCh38
GRCh3713110,801,310 - 110,959,496 (-)NCBIGRCh37hg19GRCh37
Build 3613109,599,311 - 109,757,497 (-)NCBINCBI36hg18NCBI36
Build 3413109,599,311 - 109,757,459NCBI
Celera1391,645,588 - 91,803,669 (-)NCBI
Cytogenetic Map13q34NCBImapview
HuRef1391,400,456 - 91,558,957 (-)NCBI
CHM1_113110,770,023 - 110,927,935 (-)NCBI
Model


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

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on COL4A1
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Map Viewer
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Vista + UCSC

RGD Object Information
RGD ID: 1316170
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2016-11-22
Status: ACTIVE