Gene
pkp1b
- ID
- ZDB-GENE-030131-417
- Name
- plakophilin 1b
- Symbol
- pkp1b Nomenclature History
- Previous Names
-
- pkp1
- fb30d08
- wu:fb30d08
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable cadherin binding activity. Predicted to be involved in cell-cell adhesion; cell-cell junction assembly; and intermediate filament bundle assembly. Predicted to act upstream of or within cell adhesion. Predicted to be located in desmosome. Predicted to be active in several cellular components, including adherens junction; nucleus; and plasma membrane. Is expressed in EVL; otic vesicle; peripheral olfactory organ; and pharyngeal arch. Human ortholog(s) of this gene implicated in ectodermal dysplasia. Orthologous to human PKP1 (plakophilin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7152279 (13 images)
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 |
|---|---|---|---|
| Ectodermal dysplasia/skin fragility syndrome | 604536 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Armadillo | Armadillo-like helical | Armadillo-type fold | Plakophilin/Delta catenin |
|---|---|---|---|---|---|
|
UniProtKB:E7FBR0
|
736 |
Interactions and Pathways
No data available
Plasmids
No data available