Gene
col9a1a
- ID
- ZDB-GENE-080721-25
- Name
- collagen, type IX, alpha 1a
- Symbol
- col9a1a Nomenclature History
- Previous Names
-
- zgc:194937 (1)
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Predicted to localize to extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 6; and osteochondrodysplasia. Orthologous to human COL9A1 (collagen type IX alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| multiple epiphyseal dysplasia 6 | Alliance | ?Epiphyseal dysplasia, multiple, 6 | 614135 |
| Stickler syndrome, type IV | 614134 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Repeat | IPR008160 | Collagen triple helix repeat |
Domain Details Per Protein
| Protein | Length | Collagen triple helix repeat |
|---|---|---|
|
UniProtKB:B3DJC9
|
687 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
col9a1a-201
(1)
|
Havana | 2729 nt |
Interactions and Pathways
No data available
Plasmids
No data available