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
Expression
All Expression Data
52 figures from 36 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
26 figures from 12 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ptch1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Basal cell carcinoma, somatic 605462
Basal cell nevus syndrome 1 109400
Holoprosencephaly 7 610828
Associated With ptch1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000731 Sterol-sensing domain
Family IPR003392 Protein patched/dispatched
Family IPR004766 Transmembrane receptor, patched
Domain Details Per Protein
Protein Length Protein patched/dispatched Sterol-sensing domain Transmembrane receptor, patched
UniProtKB:F1R8E2 1475
Transcripts
Genome Browsers
Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations