COL4A1 collagen type IV alpha 1 chain
Gene ID: 1282, updated on 5-Mar-2024Gene type: protein coding
Also known as: BSVD; BSVD1; RATOR; PADMAL; COL4A1s
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- Go to complete Gene record for COL4A1
- Go to Variation Viewer for COL4A1 variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | See labs |
Brain small vessel disease 1 with or without ocular anomalies | See labs |
COL4A1 is associated with arterial stiffness by genome-wide association scan. GeneReviews: Not available | |
Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. GeneReviews: Not available | |
Hemorrhage, intracerebral, susceptibility to | See labs |
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. GeneReviews: Not available | |
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. GeneReviews: Not available | |
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | See labs |
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
Retinal arterial tortuosity | See labs |
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. GeneReviews: Not available |
Genomic context
- Location:
- 13q34
- Sequence:
- Chromosome: 13; NC_000013.11 (110148963..110307157, complement)
- Total number of exons:
- 53
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for COL4A1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- COL4A1 @ LOVD
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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