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 be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within epidermis development. Predicted to be located in basement membrane; hemidesmosome; and membrane. Predicted to be part of collagen trimer. Predicted to be active in extracellular matrix. Is expressed in corneal epithelial cell; epithelium; hypodermis; and integument. Human ortholog(s) of this gene implicated in epithelial recurrent erosion dystrophy and junctional epidermolysis bullosa. 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 | Additional Resources | Length | Collagen and Collagen-like Structural Proteins | Collagen triple helix repeat |
|---|---|---|---|---|
| UniProtKB:A0A8M9PH43 | InterPro | 1397 | ||
| UniProtKB:B8A4S4 | InterPro | 1408 | ||
| UniProtKB:A0A8M6YXV6 | InterPro | 1413 | ||
| UniProtKB:A0A8M2B6Z2 | InterPro | 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