Gene
col17a1a
- ID
- ZDB-GENE-090313-107
- Name
- collagen, type XVII, alpha 1a
- Symbol
- col17a1a Nomenclature History
- Previous Names
-
- col17a1
- col17a1b
- si:ch211-281g13.3 (1)
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Involved in epidermis development. Predicted to localize to extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in epithelial recurrent erosion dystrophy; junctional epidermolysis bullosa; and junctional epidermolysis bullosa non-Herlitz type. Is expressed in corneal epithelial cell; epithelium; hypodermis; and integument. Orthologous to human COL17A1 (collagen type XVII alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 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 |
|---|---|---|---|
| epithelial recurrent erosion dystrophy | Alliance | Epithelial recurrent erosion dystrophy | 122400 |
| Epidermolysis bullosa, junctional 4, intermediate | 619787 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Collagen superfamily | Collagen triple helix repeat |
|---|---|---|---|
|
UniProtKB:A0A8M9PH43
|
1397 | ||
|
UniProtKB:B8A4S4
|
1408 | ||
|
UniProtKB:A0A8M6YXV6
|
1413 | ||
|
UniProtKB:A0A8M2B6Z2
|
1414 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col17a1a-201
(1)
|
Ensembl | 4,745 nt |
Interactions and Pathways
No data available
Plasmids
No data available