Gene
col17a1b
- ID
- ZDB-GENE-030131-7145
- Name
- collagen, type XVII, alpha 1b
- Symbol
- col17a1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Involved in lateral line system development. Predicted to localize to extracellular matrix and extracellular space. Is expressed in hypodermis; lateral line; and neuromast. Human ortholog(s) of this gene implicated in epithelial recurrent erosion dystrophy; junctional epidermolysis bullosa; and junctional epidermolysis bullosa non-Herlitz type. Orthologous to human COL17A1 (collagen type XVII alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Kim et al., 2010
- Cross-Species Comparison
- Alliance
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:A0A8M2B345
|
1517 | ||
|
UniProtKB:A0A8N7UTE7
|
1542 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col17a1b-201
(1)
|
Ensembl | 2,349 nt | ||
| mRNA |
col17a1b-202
(1)
|
Ensembl | 4,533 nt | ||
| mRNA |
col17a1b-203
(1)
|
Ensembl | 510 nt |
Interactions and Pathways
No data available
Plasmids
No data available