Gene
ptch1
- ID
- ZDB-GENE-980526-196
- Name
- patched 1
- Symbol
- ptch1 Nomenclature History
- Previous Names
-
- ptc2
- lep
- leprechaun
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have hedgehog family protein binding activity; hedgehog receptor activity; and smoothened binding activity. Involved in several processes, including cardioblast differentiation; intramembranous ossification; and negative regulation of smoothened signaling pathway. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in basal cell carcinoma; holoprosencephaly; holoprosencephaly 7; and nevoid basal cell carcinoma syndrome. Is expressed in several structures, including cranium; digestive system; epithelium; mesenchyme; and nervous system. Orthologous to human PTCH1 (patched 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 52 figures from 36 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu578 (7 images)
Wild Type Expression Summary
- All Phenotype Data
- 26 figures from 12 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| holoprosencephaly 7 | Alliance | Holoprosencephaly 7 | 610828 |
| nevoid basal cell carcinoma syndrome 1 | Alliance | Basal cell nevus syndrome 1 | 109400 |
| Basal cell carcinoma, somatic | 605462 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Protein patched/dispatched | Sterol-sensing domain | Transmembrane receptor, patched |
|---|---|---|---|---|
|
UniProtKB:F1R8E2
|
1475 |
Interactions and Pathways
Plasmids
No data available
- Comparative Orthology
- Alliance