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 be an extracellular matrix structural constituent conferring tensile strength. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in extracellular matrix. Is expressed in several structures, including dermis; dermomyotome; head; neural crest; and notochord. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 1. Orthologous to human COL5A1 (collagen type V alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 20 figures from 10 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
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000885 | Fibrillar collagen, C-terminal |
| Domain | IPR001791 | Laminin G domain |
| Domain | IPR048287 | Thrombospondin-like, N-terminal domain |
| Family | IPR050149 | Collagen superfamily |
| Family | IPR050938 | Collagen and Collagen-like Structural Proteins |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
| Repeat | IPR008160 | Collagen triple helix repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen and Collagen-like Structural Proteins | Collagen superfamily | 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 | InterPro | 2024 | |||||||
| UniProtKB:A0A8M9PD17 | InterPro | 2024 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col5a1-201
(1)
|
Ensembl | 9,581 nt | ||
| mRNA |
col5a1-202
(1)
|
Ensembl | 4,662 nt |
Interactions and Pathways
No data available
Plasmids
No data available