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. Is expressed in several structures, including cranium; digestive system; epithelium; mesenchyme; and nervous system. Human ortholog(s) of this gene implicated in basal cell carcinoma; holoprosencephaly; holoprosencephaly 7; and nevoid basal cell carcinoma syndrome. Orthologous to human PTCH1 (patched 1).
Genome Resources
Note
None
Expression
All Expression Data
50 figures from 35 publications
Cross-Species Comparison
High Throughput Data
No data available
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
holoprosencephaly 7 Alliance Holoprosencephaly 7 610828
nevoid basal cell carcinoma syndrome Alliance Basal cell nevus syndrome 109400
Basal cell carcinoma, somatic 605462
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:Q9W6T6 1243
UniProtKB:F8W5M6 120
UniProtKB:A0A2R8Q5A2 1249
UniProtKB:F1QHX5 1355
UniProtKB:F1R8E2 1475
Transcripts
Genome Browsers
Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Citations