Gene
col5a1
- ID
- ZDB-GENE-041105-6
- Name
- procollagen, type V, alpha 1
- Symbol
- col5a1 Nomenclature History
- Previous Names
-
- si:dkey-87m23.1
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent and heparin binding activity. Predicted to be involved in cell adhesion and collagen fibril organization. Predicted to localize to collagen type V trimer and extracellular space. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and type I Ehlers-Danlos syndrome. Is expressed in several structures, including dermis; head; neural crest; notochord; and otic vesicle. Orthologous to human COL5A1 (collagen type V alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 18 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Ehlers-Danlos syndrome classic type 1 | Alliance | Ehlers-Danlos syndrome, classic type, 1 | 130000 |
| Fibromuscular dysplasia, multifocal | 619329 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Collagen triple helix repeat | Concanavalin A-like lectin/glucanase domain superfamily | Fibrillar collagen, C-terminal | Laminin G domain | Thrombospondin-like, N-terminal domain |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PIP9
|
2024 | |||||
|
UniProtKB:A0A8M9PD17
|
2024 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
col5a1-201
(1)
|
Havana | 9581 nt |
Interactions and Pathways
No data available
Plasmids
No data available