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Description for Protein PTCH1

patched 1
7 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06225
    KEGG - Pathway(s):
    hsa04340; hsa05200; hsa05217
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    PTC; PTC1; PTCH1; Patched; Patched isoform L; Patched isoform M; Patched isoform L`
    Approved Symbol:
    PTCH1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 8
    Human (de-) phosphorylation sites: 8; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Basal cell carcinoma, somatic(Pd);
  • Basal cell nevus syndrome(Pd);
  • Holoprosencephaly 7(Pd)
    		• Predicted Transmembrane Domains:
    03200_7(12)
    03200_6(12)
    03200_5(12)
    03200_4(12)
    03200_3(12)
    03200_2(12)
    03200_1(12)
    Additional Identifiers:

    HPRD: 03200 Entrez Gene ID: 5727 OMIM ID: 601309 Swissprot Accession: Q59FG5; Q5R1U7; Q13635;