ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be an extracellular matrix structural constituent. Predicted to be located in extracellular region. 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
- 21 figures from 11 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
No data available
Domain Details Per Protein
| Protein | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0A8M9PIP9 | InterPro | 2024 |
| UniProtKB:A0A8M9PD17 | InterPro | 2024 |
| UniProtKB:A0AC58IC99 | InterPro | 2048 |
| UniProtKB:A0AC58ICA1 | InterPro | 2048 |
- Genome Browsers
| 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
- Genome Browsers