Gene
col4a1
- ID
- ZDB-GENE-081105-114
- Name
- collagen, type IV, alpha 1
- Symbol
- col4a1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Predicted to localize to basement membrane; collagen trimer; and membrane. Is expressed in several structures, including cardiovascular system; eye; hypodermis; optic fissure; and paraxial mesoderm. Human ortholog(s) of this gene implicated in COL4A1-related familial vascular leukoencephalopathy; myocardial infarction; and retinal arterial tortuosity. Orthologous to human COL4A1 (collagen type IV alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 12 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7157877 (20 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Stratman et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
brain small vessel disease 1 | Alliance | Brain small vessel disease with or without ocular anomalies | 175780 |
retinal arterial tortuosity | Alliance | ?Retinal arteries, tortuosity of | 180000 |
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | 611773 | ||
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 618564 | ||
{Hemorrhage, intracerebral, susceptibility to} | 614519 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Collagen IV, non-collagenous | Collagen IV, non-collagenous domain superfamily | Collagen superfamily | Collagen triple helix repeat | C-type lectin fold |
---|---|---|---|---|---|---|
UniProtKB:A0A8N7UT91
|
1640 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
col4a1-201
(1)
|
Ensembl | 5,961 nt | ||
mRNA |
col4a1-202
(1)
|
Ensembl | 3,954 nt |
Interactions and Pathways
No data available
Plasmids
No data available