Identity
HGNC
LOCATION
9q22.32
LOCUSID
ALIAS
BCNS,NBCCS,PTC,PTC1,PTCH
FUSION GENES
DNA/RNA
Description
24 exons, exon 24 is non-coding; 34 kb
Transcription
alternate splicing: 3 different 5 termini; 6.5 kb mRNA; coding sequence: CDS 1 ... 4344
Proteins
Description
glycoprotein; 12 transmembrane domains, 2 extra cellular loops, intracellular N-term and C-term and sterol-sensing domain (SSD)
Expression
widely expressed at low levels; increased levels in cells receiving a hedgehog signal
Localisation
transmembrane protein, cellular membrane, intracellular vesicles
Function
part of a signalling pathway; opposed by the gene products of hedgehog genes; transmembrane protein; is thought to have a repressive activity on cell proliferation; the recent demonstration of NBCCS syndrome (see below) as a chromosome instability syndrome suggests that this protein has a role in DNA maintenance, repair and/or replication
Homology
patched (drosophila segment polarity gene), PTCH2 (human gene with unknown function)
Mutations
Germinal
germ-line mutations lead to protein truncation in naevoid basal cell carcinoma syndrome (NBCCS) patients (see below); mutations types are variable : nucleotide substitutions (missense/nonsense), small deletions, or small insertions mainly, leading to protein truncation; these mutations have been observed in most exons; there is, so far, no hot-spot.
Somatic
mutation and allele loss events in basal cell carcinoma, in NBCCS and in sporadic basal cell carcinoma are, so far, in accordance with the two-hit model for neoplasia, as is found in retinoblastoma; mutation and allele loss have also been found in sporadic primitive neuroectodermal tumours (PNETs), sporadic medulloblastomas and in a few cases of esophageal squamous cell carcinoma and invasive transitional cell carcinoma of the bladder; mutations have also been reported in a low frequency of sporadic trichoepitheliomas and in sporadic odontogenic keratocysts
Implicated in
Entity name
naevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome
Disease
autosomal dominant condition; cancer prone disease (multiple basal cell carcinomas, medulloblastomas); malformations; it is also a chromosome instability syndrome
Cytogenetics
spontaneous and induced chromosome instability
Entity name
skin cancers
Disease
Entity name
brain diseases
Disease
Entity name
various cancers and benign tumors
Disease
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9620294 | 1998 | Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. | Aszterbaum M et al |
| 10943312 | 2000 | Hedgehog signaling in animal development and human disease. | Bailey EC et al |
| 9677257 | 1998 | Patching together the genetics of Gorlin syndrome. | Bale SJ et al |
| 10890722 | 2000 | PTCH gene mutations in odontogenic keratocysts. | Barreto DC et al |
| 8145818 | 1994 | Compartment boundaries and the control of Drosophila limb pattern by hedgehog protein. | Basler K et al |
| 10220428 | 1999 | High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum. | Bodak N et al |
| 10728988 | 1999 | The hedgehog signalling pathway and its role in basal cell carcinoma. | Booth DR et al |
| 8306973 | 1994 | The Drosophila segment polarity gene patched interacts with decapentaplegic in wing development. | Capdevila J et al |
| 10656695 | 2000 | UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients. | D'Errico M et al |
| 10838143 | 2000 | UV-specific mutations of the human patched gene in basal cell carcinomas from normal individuals and xeroderma pigmentosum patients. | Daya-Grosjean L et al |
| 10874314 | 2000 | Identification of PATCHED mutations in medulloblastomas by direct sequencing. | Dong J et al |
| 20334495 | 2010 | Structure, organization and nucleotide diversity of the mitochondrial control region and cytochrome b of southern water vole (Arvicola sapidus). | Centeno-Cuadros A et al |
| 8782823 | 1996 | The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. | Gailani MR et al |
| 8647801 | 1996 | A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities. | Hahn H et al |
| 8681379 | 1996 | Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. | Hahn H et al |
| 8658145 | 1996 | Human homolog of patched, a candidate gene for the basal cell nevus syndrome. | Johnson RL et al |
| 9341860 | 1997 | Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome. | Lench NJ et al |
| 9788729 | 1998 | Dinucleotide repeat polymorphism within the tumor suppressor gene PTCH at 9q22. | Louhelainen J et al |
| 9523206 | 1998 | Mutations in the human homologue of the Drosophila patched gene in esophageal squamous cell carcinoma. | Maesawa C et al |
| 9764827 | 1998 | PTCH gene mutations in invasive transitional cell carcinoma of the bladder. | McGarvey TW et al |
| 11941477 | 2002 | Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. | Ming JE et al |
| 9041183 | 1997 | Sporadic medulloblastomas contain PTCH mutations. | Raffel C et al |
| 9541654 | 1998 | The naevoid basal-cell carcinoma syndrome (Gorlin syndrome) is a chromosomal instability syndrome. | Shafei-Benaissa E et al |
| 1340474 | 1992 | The Drosophila hedgehog gene is expressed specifically in posterior compartment cells and is a target of engrailed regulation. | Tabata T et al |
| 11130178 | 2000 | Hedgehog signalling in cancer. | Toftgård R et al |
| 9354420 | 1997 | Trichoepitheliomas contain somatic mutations in the overexpressed PTCH gene: support for a gatekeeper mechanism in skin tumorigenesis. | Vorechovský I et al |
| 8981943 | 1997 | Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. | Wicking C et al |
| 9205058 | 1997 | Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. | Wolter M et al |
| 9192811 | 1997 | Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors. | Xie J et al |
Other Information
Locus ID:
NCBI: 5727
MIM: 601309
HGNC: 9585
Ensembl: ENSG00000185920
Variants:
dbSNP: 5727
ClinVar: 5727
TCGA: ENSG00000185920
COSMIC: PTCH1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38287479 | 2024 | PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico. | 2 |
| 38411252 | 2024 | PTCH1-mutant human cerebellar organoids exhibit altered neural development and recapitulate early medulloblastoma tumorigenesis. | 2 |
| 38287479 | 2024 | PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico. | 2 |
| 38411252 | 2024 | PTCH1-mutant human cerebellar organoids exhibit altered neural development and recapitulate early medulloblastoma tumorigenesis. | 2 |
| 36870116 | 2023 | Rs28446116 in PTCH1 is associated with non-syndromic cleft lip with or without palate in the Ningxia population, China. | 1 |
| 37283107 | 2023 | Mutations of PTCH1 gene in two pedigrees with bifid rib-basal cell nevus-jaw cyst syndrome. | 0 |
| 36870116 | 2023 | Rs28446116 in PTCH1 is associated with non-syndromic cleft lip with or without palate in the Ningxia population, China. | 1 |
| 37283107 | 2023 | Mutations of PTCH1 gene in two pedigrees with bifid rib-basal cell nevus-jaw cyst syndrome. | 0 |
| 34862824 | 2022 | Novel PTCH1 and concurrent TP53 mutations in four patients with numerous non-syndromic basal cell carcinomas: The paradigm of oncogenic synergy. | 2 |
| 34990798 | 2022 | Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers. | 3 |
| 35276608 | 2022 | Differential promoter usages of PTCH1 and down regulation of HHIP are associated with HNSCC progression. | 1 |
| 35318716 | 2022 | Impaired Wnt/beta-catenin and protein patched homolog 1 signaling in extraocular sebaceous carcinoma: A clinical and histopathological study. | 0 |
| 35569117 | 2022 | Orthokeratinized odontogenic cysts: A clinicopathologic study of 159 cases and molecular evidence for the absence of PTCH1 mutations. | 6 |
| 36205138 | 2022 | New insight into the role of PTCH1 protein in serous ovarian carcinomas. | 1 |
| 34862824 | 2022 | Novel PTCH1 and concurrent TP53 mutations in four patients with numerous non-syndromic basal cell carcinomas: The paradigm of oncogenic synergy. | 2 |
Citation
Erika Lindström ; Rune Toftgœrd
PTCH1 patched homolog 1 (Drosophila)
Atlas Genet Cytogenet Oncol Haematol. 2000-12-01
Online version: http://atlasgeneticsoncology.org/gene/100
Historical Card
1999-01-01 PTCH1 patched homolog 1 (Drosophila) by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
1997-05-01 PTCH1 patched homolog 1 (Drosophila) by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
