ZFIN ID: ZDB-GENE-980526-196
Gene Name: patched 1
Gene Symbol: ptch1    Nomenclature History

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Previous Names: ptc2, lep, leprechaun

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 8 Mapping Details/Browsers
Description: Predicted to have hedgehog receptor activity. Involved in several processes, including cardioblast differentiation; intramembranous ossification; and negative regulation of smoothened signaling pathway. Predicted to localize to the integral component of 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: Alliance (1),  Gene:30189 (1),  Ensembl(GRCz11):ENSDARG00000016404 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la016340Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa784 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa7141 Point Mutation Unknown Splice Site ENU
    sa9464 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa17883 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa21322 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa21323 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa34430 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • tj222 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • tq236 Unknown Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-ptch1
    1
    CRISPR2-ptch1
    1
    MO1-ptch1 N/A 9
    MO2-ptch1 N/A 2
    MO3-ptch1 N/A 1
    MO4-ptch1 N/A 1
    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
    DISEASE ASSOCIATED WITH ptch1 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process cardioblast differentiation (more)
    Cellular Component integral component of membrane (more)
    Molecular Function hedgehog receptor activity (more)
    GO Terms (all 14)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR000731 Sterol-sensing domain
    Family IPR003392 Protein patched/dispatched
    Family IPR004766 Transmembrane receptor, patched
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA ptch1-202 (1)    Ensembl 4068
    ptch1-203 (1)    Ensembl 361
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    SignaFish
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM ptch1 No data available
    MARKER RELATIONSHIPS
    ptch1 Contained in: [BAC] CH211-248D20 (1), DKEY-72L19 (1) (order this), DKEY-185L9 (1) (order this)
    ptch1 Encodes: [EST] eu578 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001305542 (1)
    Genomic GenBank:CR847548 (1) 249728 bp Blast at MegaBLAST
    Polypeptide UniProtKB:F1R8E2 (1) 1475 aa
    Sequence Information (all 18)
    ORTHOLOGY for ptch1 ( Chr: 8 )
    CITATIONS (124)