{"entity":{"id":"ptch1","kind":"target","name":"PTCH1 (Patched 1)","aka":["Patched 1","PTCH","NBCCS","patched 1"],"tldr":"PTCH1 is the brake on the hedgehog growth pathway. When it is lost, as in nearly all basal cell carcinomas and in Gorlin syndrome, the pathway runs unchecked; vismodegib and sonidegib put the brake back one step down, at smoothened.","summary":"PTCH1 (chromosome 9q22.32) encodes Patched 1, the receptor for the hedgehog morphogens SHH, IHH and DHH and a negative regulator of smoothened: without hedgehog it acts as a cholesterol transporter that depletes cholesterol from the outer leaflet of the plasma membrane and so keeps SMO from being activated; hedgehog binding switches the transporter off and SMO signals (UniProt Q13635). The hedgehog pathway record states that PTCH1 loss or SMO mutation drives basal cell carcinoma (Gorlin syndrome) and the SHH subgroup of medulloblastoma. In OnCo, vismodegib and sonidegib treat the disease by inhibiting SMO downstream of PTCH1 loss, and germline PTCH1 loss in Gorlin syndrome is the population for the topical SMO inhibitor patidegib.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:9585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9585"},{"label":"UniProt Q13635","url":"https://www.uniprot.org/uniprotkb/Q13635/entry"},{"label":"NCBI Gene 5727","url":"https://www.ncbi.nlm.nih.gov/gene/5727"}],"tags":["wave5-target"],"related":["vismodegib","sonidegib","patidegib","smoothened"],"cancers":["basal-cell-carcinoma","locally-advanced-bcc","medulloblastoma-shh"],"sections":[],"technologies":["hedgehog-inhibitors"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["hedgehog","basal-cell-carcinoma-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"PTCH1","hgnc":"HGNC:9585","ensembl":"ENSG00000185920","uniprot":"Q13635","entrez":"5727","biology":"A tumour suppressor rather than a druggable target: PTCH1 inactivation is what makes a tumour hedgehog-dependent and so eligible for SMO antagonists. The hedgehog pathway record notes resistance through SMO mutations or SUFU and GLI2 alterations downstream.","whereFound":["Basal cell carcinoma (PTCH1 loss in nearly all cases)","SHH-subgroup medulloblastoma","Gorlin (basal cell nevus) syndrome (germline PTCH1 loss)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/ptch1/","neighbours":{"drug":[{"id":"patidegib","kind":"drug","name":"Patidegib","route":"/drugs/patidegib/"},{"id":"sonidegib","kind":"drug","name":"Sonidegib","route":"/drugs/sonidegib/"},{"id":"vismodegib","kind":"drug","name":"Vismodegib","route":"/drugs/vismodegib/"}],"target":[{"id":"smoothened","kind":"target","name":"Smoothened (hedgehog pathway)","route":"/targets/smoothened/"}],"cancer":[{"id":"basal-cell-carcinoma","kind":"cancer","name":"Basal cell carcinoma","route":"/cancers/basal-cell-carcinoma/"},{"id":"locally-advanced-bcc","kind":"cancer","name":"Locally advanced and metastatic basal cell carcinoma","route":"/cancers/locally-advanced-bcc/"},{"id":"medulloblastoma-shh","kind":"cancer","name":"SHH-activated medulloblastoma","route":"/cancers/medulloblastoma-shh/"}],"technology":[{"id":"hedgehog-inhibitors","kind":"technology","name":"Hedgehog pathway inhibitors","route":"/technologies/hedgehog-inhibitors/"}],"pathway":[{"id":"basal-cell-carcinoma-signalling","kind":"pathway","name":"Basal cell carcinoma (KEGG map)","route":"/pathways/basal-cell-carcinoma-signalling/"},{"id":"hedgehog","kind":"pathway","name":"Hedgehog signalling","route":"/pathways/hedgehog/"}]}}