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 be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in extracellular matrix organization. Predicted to be located in basement membrane and extracellular region. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including cardiovascular system; digestive system; integument; pronephros; and sensory system. Human ortholog(s) of this gene implicated in brain small vessel disease 1; myocardial infarction; retinal arterial tortuosity; and uterine fibroid. Orthologous to human COL4A1 (collagen type IV alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 7 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 | Additional Resources | Length | Collagen IV, non-collagenous | Collagen IV, non-collagenous domain superfamily | Collagen superfamily | Collagen triple helix repeat | C-type lectin fold |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8N7UT91 | InterPro | 1640 |
- Genome Browsers
| 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