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PTCH1 patched homolog 1 (Drosophila)

Written2000-12Erika Lindström, Rune Toftgœrd
Karolinska Institute, Department of Biosciences, NOVUM, Huddinge, Sweden
This article is an update of :
1999-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
1997-05Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


Alias (NCBI)PTC, but this term was confusing with PTC/PKA
HGNC Alias symbBCNS
HGNC Previous nameNBCCS
HGNC Previous namepatched (Drosophila) homolog
 patched homolog (Drosophila)
 patched homolog 1 (Drosophila)
LocusID (NCBI) 5727
Atlas_Id 100
Location 9q22.32  [Link to chromosome band 9q22]
Location_base_pair Starts at 95481827 and ends at 95516971 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping PTCH1.png]
Local_order (between FACC and XPAC PTCH1 is flanked by the microsatellite markers D9S196 and D9S287; a microsatellite marker, 1AJL, is located inside the gene
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MTRNR2L2 (5q14.1)::PTCH1 (9q22.32)NUDCD3 (7p13)::PTCH1 (9q22.32)PTCH1 (9q22.32)::LUC7L2 (7q34)
PTCH1 (9q22.32)::NEXMIF (Xq13.3)PTCH1 (9q22.32)::PTCH1 (9q22.32)


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


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)


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 , 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 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 skin cancers
  • sporadic basal cell carcinoma, but also in the benign trichoepithelioma, a tumor often associated with basal cell carcinomas
  • sporadic basal cell carcinoma from xeroderma pigmentosum patients have a high frequency of typical UV-induced mutations in PTCH1
    Entity brain diseases
  • in a subset of sporadic of the central nervous system (cerebral PNETs, medulloblastomas, and desmoplastic medulloblastomas); note: NBCCS patients have a predisposition for the development of PNETs, while, herein mentioned are sporadic PNETs
  • PTCH1 have also been found mutated in both familiar and sporadic cases of Holoprosencephaly (HPE)
    Entity various cancers and benign tumors
  • invasive transitional cell carcinoma of the bladder: PTCH1 has been found mutated in rare cases
  • sporadic esophageal squamous cell carcinoma
  • jaws: in sporadic odontogenic keratocysts and in odontogenic keratocysts from NBCCS patients


    Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.
    Aszterbaum M, Rothman A, Johnson RL, Fisher M, Xie J, Bonifas JM, Zhang X, Scott MP, Epstein EH Jr
    The Journal of investigative dermatology. 1998 ; 110 (6) : 885-888.
    PMID 9620294
    Hedgehog signaling in animal development and human disease.
    Bailey EC, Scott MP, Johnson RL
    Ernst Schering Research Foundation workshop. 2000 : 211-235.
    PMID 10943312
    Patching together the genetics of Gorlin syndrome.
    Bale SJ, Falk RT, Rogers GR
    Journal of cutaneous medicine and surgery. 1998 ; 3 (1) : 31-34.
    PMID 9677257
    PTCH gene mutations in odontogenic keratocysts.
    Barreto DC, Gomez RS, Bale AE, Boson WL, De Marco L
    Journal of dental research. 2000 ; 79 (6) : 1418-1422.
    PMID 10890722
    Compartment boundaries and the control of Drosophila limb pattern by hedgehog protein.
    Basler K, Struhl G
    Nature. 1994 ; 368 (6468) : 208-214.
    PMID 8145818
    High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum.
    Bodak N, Queille S, Avril MF, Bouadjar B, Drougard C, Sarasin A, Daya-Grosjean L
    Proceedings of the National Academy of Sciences of the United States of America. 1999 ; 96 (9) : 5117-5122.
    PMID 10220428
    The hedgehog signalling pathway and its role in basal cell carcinoma.
    Booth DR
    Cancer metastasis reviews. 1999 ; 18 (2) : 261-284.
    PMID 10728988
    The Drosophila segment polarity gene patched interacts with decapentaplegic in wing development.
    Capdevila J, Estrada MP, S´nchez-Herrero E, Guerrero I
    The EMBO journal. 1994 ; 13 (1) : 71-82.
    PMID 8306973
    UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients.
    D'Errico M, Calcagnile A, Canzona F, Didona B, Posteraro P, Cavalieri R, Corona R, Vorechovsky I, Nardo T, Stefanini M, Dogliotti E
    Oncogene. 2000 ; 19 (3) : 463-467.
    PMID 10656695
    UV-specific mutations of the human patched gene in basal cell carcinomas from normal individuals and xeroderma pigmentosum patients.
    Daya-Grosjean L, Sarasin A
    Mutation research. 2000 ; 450 (1-2) : 193-199.
    PMID 10838143
    Identification of PATCHED mutations in medulloblastomas by direct sequencing.
    Dong J, Gailani MR, Pomeroy SL, Reardon D, Bale AE
    Human mutation. 2000 ; 16 (1) : 89-90.
    PMID 10874314
    The spectrum of patched mutations in a collection of Australian basal cell carcinomas.
    Evans T Boonchai W Shanley S Smyth I Gillies S Georgas K Wainwright B ChenevixTrench G Wicking C
    Hum Mut. 2000 ; 16 (numero 1) : 43-48.
    PMID 20334495
    The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas.
    Gailani MR, Ståhle-Bäckdahl M, Leffell DJ, Glynn M, Zaphiropoulos PG, Pressman C, Undén AB, Dean M, Brash DE, Bale AE, Toftgård R
    Nature genetics. 1996 ; 14 (1) : 78-81.
    PMID 8782823
    A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities.
    Hahn H, Christiansen J, Wicking C, Zaphiropoulos PG, Chidambaram A, Gerrard B, Vorechovsky I, Bale AE, Toftgard R, Dean M, Wainwright B
    The Journal of biological chemistry. 1996 ; 271 (21) : 12125-12128.
    PMID 8647801
    Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.
    Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE
    Cell. 1996 ; 85 (6) : 841-851.
    PMID 8681379
    Human homolog of patched, a candidate gene for the basal cell nevus syndrome.
    Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH Jr, Scott MP
    Science (New York, N.Y.). 1996 ; 272 (5268) : 1668-1671.
    PMID 8658145
    Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome.
    Lench NJ, Telford EA, High AS, Markham AF, Wicking C, Wainwright BJ
    Human genetics. 1997 ; 100 (5-6) : 497-502.
    PMID 9341860
    Dinucleotide repeat polymorphism within the tumor suppressor gene PTCH at 9q22.
    Louhelainen J, Lindströ E, Hemminki K, Toftgård R
    Clinical genetics. 1998 ; 54 (3) : 239-241.
    PMID 9788729
    Mutations in the human homologue of the Drosophila patched gene in esophageal squamous cell carcinoma.
    Maesawa C, Tamura G, Iwaya T, Ogasawara S, Ishida K, Sato N, Nishizuka S, Suzuki Y, Ikeda K, Aoki K, Saito K, Satodate R
    Genes, chromosomes & cancer. 1998 ; 21 (3) : 276-279.
    PMID 9523206
    PTCH gene mutations in invasive transitional cell carcinoma of the bladder.
    McGarvey TW, Maruta Y, Tomaszewski JE, Linnenbach AJ, Malkowicz SB
    Oncogene. 1998 ; 17 (9) : 1167-1172.
    PMID 9764827
    Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
    Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M
    Human genetics. 2002 ; 110 (4) : 297-301.
    PMID 11941477
    Sporadic medulloblastomas contain PTCH mutations.
    Raffel C, Jenkins RB, Frederick L, Hebrink D, Alderete B, Fults DW, James CD
    Cancer research. 1997 ; 57 (5) : 842-845.
    PMID 9041183
    The naevoid basal-cell carcinoma syndrome (Gorlin syndrome) is a chromosomal instability syndrome.
    Shafei-Benaissa E, Savage JR, Babin P, Larrègue M, Papworth D, Tanzer J, Bonnetblanc JM, Huret JL
    Mutation research. 1998 ; 397 (2) : 287-292.
    PMID 9541654
    The Drosophila hedgehog gene is expressed specifically in posterior compartment cells and is a target of engrailed regulation.
    Tabata T, Eaton S, Kornberg TB
    Genes & development. 1992 ; 6 (12B) : 2635-2645.
    PMID 1340474
    Hedgehog signalling in cancer.
    Toftgå R
    Cellular and molecular life sciences : CMLS. 2000 ; 57 (12) : 1720-1731.
    PMID 11130178
    Trichoepitheliomas contain somatic mutations in the overexpressed PTCH gene: support for a gatekeeper mechanism in skin tumorigenesis.
    Vorechovský I, Undén AB, Sandstedt B, Toftgård R, Ståhle-Bä M
    Cancer research. 1997 ; 57 (21) : 4677-4681.
    PMID 9354420
    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, Shanley S, Smyth I, Gillies S, Negus K, Graham S, Suthers G, Haites N, Edwards M, Wainwright B, Chenevix-Trench G
    American journal of human genetics. 1997 ; 60 (1) : 21-26.
    PMID 8981943
    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, Reifenberger J, Sommer C, Ruzicka T, Reifenberger G
    Cancer research. 1997 ; 57 (13) : 2581-2585.
    PMID 9205058
    Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors.
    Xie J, Johnson RL, Zhang X, Bare JW, Waldman FM, Cogen PH, Menon AG, Warren RS, Chen LC, Scott MP, Epstein EH Jr
    Cancer research. 1997 ; 57 (12) : 2369-2372.
    PMID 9192811


    This paper should be referenced as such :
    PTCH1 (patched homolog 1 (Drosophila))
    Atlas Genet Cytogenet Oncol Haematol. 2001;5(1):16-18.
    Free journal version : [ pdf ]   [ DOI ]
    History of this paper:
    Huret, JL. PTCH1 (patched homolog 1 (Drosophila)). Atlas Genet Cytogenet Oncol Haematol. 1997;1(1):1-2.
    Huret, JL. PTCH1 (patched homolog 1 (Drosophila)). Atlas Genet Cytogenet Oncol Haematol. 1999;3(2):57-58.

    Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ]
      Familial nervous system tumour syndromes Naevoid basal cell carcinoma syndrome (NBCS)

    External links

    HGNC (Hugo)PTCH1   9585
    LRG (Locus Reference Genomic)LRG_515
    Atlas Explorer : (Salamanque)PTCH1
    Entrez_Gene (NCBI)PTCH1    patched 1
    AliasesBCNS; NBCCS; PTC; PTC1; 
    GeneCards (Weizmann)PTCH1
    Ensembl hg19 (Hinxton)ENSG00000185920 [Gene_View]
    Ensembl hg38 (Hinxton)ENSG00000185920 [Gene_View]  ENSG00000185920 [Sequence]  chr9:95481827-95516971 [Contig_View]  PTCH1 [Vega]
    ICGC DataPortalENSG00000185920
    TCGA cBioPortalPTCH1
    AceView (NCBI)PTCH1
    Genatlas (Paris)PTCH1
    SOURCE (Princeton)PTCH1
    Genetics Home Reference (NIH)PTCH1
    Genomic and cartography
    GoldenPath hg38 (UCSC)PTCH1  -     chr9:95481827-95516971 -  9q22.32   [Description]    (hg38-Dec_2013)
    GoldenPath hg19 (UCSC)PTCH1  -     9q22.32   [Description]    (hg19-Feb_2009)
    GoldenPathPTCH1 - 9q22.32 [CytoView hg19]  PTCH1 - 9q22.32 [CytoView hg38]
    Genome Data Viewer NCBIPTCH1 [Mapview hg19]  
    OMIM109400   601309   605462   610828   
    Gene and transcription
    Genbank (Entrez)AB189436 AB189437 AB189438 AB189439 AB189440
    RefSeq transcript (Entrez)NM_000264 NM_001083602 NM_001083603 NM_001083604 NM_001083605 NM_001083606 NM_001083607 NM_001354918 NM_001354919
    Consensus coding sequences : CCDS (NCBI)PTCH1
    Gene ExpressionPTCH1 [ NCBI-GEO ]   PTCH1 [ EBI - ARRAY_EXPRESS ]   PTCH1 [ SEEK ]   PTCH1 [ MEM ]
    Gene Expression Viewer (FireBrowse)PTCH1 [ Firebrowse - Broad ]
    GenevisibleExpression of PTCH1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)5727
    GTEX Portal (Tissue expression)PTCH1
    Human Protein AtlasENSG00000185920-PTCH1 [pathology]   [cell]   [tissue]
    Protein : pattern, domain, 3D structure
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    Conserved Domain (NCBI)PTCH1
    Human Protein Atlas [tissue]ENSG00000185920-PTCH1 [tissue]
    Protein Interaction databases
    Ontologies - Pathways
    PubMed305 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    PTC/PKA"%5BTI%5D%20OR%20"PTCH"%5BTI%5D%20OR%20"patched"%5BTI%5D%20%29%20AND%20REVIEW%5BPT%5D%20AND%20ENGLISH%5BLA%5D&field=titl&dispmax=50>REVIEW articlesautomatic search in PubMed
    PTC/PKA"%5BTI%5D%20OR%20"PTCH"%5BTI%5D%20OR%20"patched"%5BTI%5D%20%29%20AND%202014:2017[DP]%29&field=titl&dispmax=50>Last year publicationsautomatic search in PubMed

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