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{{cs1 config|name-list-style=vanc}}
{{PBB|geneid=5727}}
{{Short description|Protein-coding gene in the species Homo sapiens}}
⚫
'''Protein patched homolog 1''' is a [[protein]] that is the member of the [[Patched]] family and in humans is encoded by the ''PTCH1'' [[gene]].<ref name="pmid8658145">{{cite journal | author = Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH Jr, Scott MP | title = Human homolog of patched, a candidate gene for the basal cell nevus syndrome | journal = Science | volume = 272 | issue = 5268 | pages = 1668–71 | year = 1996 | month = Aug | pmid = 8658145 | pmc = | doi =10.1126/science.272.5268.1668 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PTCH1 patched homolog 1 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5727| accessdate = }}</ref>
{{Infobox_gene}}
⚫
'''Protein patched homolog 1''' is a [[protein]] that is the member of the [[patched]] family and in humans is encoded by the ''PTCH1'' [[gene]].<ref name="pmid8658145">{{cite journal | vauthors = Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH, Scott MP | title = Human homolog of patched, a candidate gene for the basal cell nevus syndrome | journal = Science | volume = 272 | issue = 5268 | pages = 1668–71 | date = Aug 1996 | pmid = 8658145 | doi = 10.1126/science.272.5268.1668 | bibcode = 1996Sci...272.1668J | s2cid = 9160210 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PTCH1 patched homolog 1 (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5727}}</ref>


== Function ==
== Function ==


PTCH1 is a member of the [[patched]] gene family and is the receptor for [[sonic hedgehog]], a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a [[tumor suppressor]].
PTCH1 is a member of the [[patched]] gene family and is the receptor for [[sonic hedgehog]], a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a [[tumor suppressor]]. The PTCH1 gene product, is a [[transmembrane protein]] that suppresses the release of another protein called [[smoothened]], and when sonic hedgehog binds PTCH1, smoothened is released and signals cell proliferation.


== Clinical significance ==
== Clinical significance ==


Mutations of this gene have been associated with [[nevoid basal cell carcinoma syndrome]], esophageal [[squamous cell carcinoma]], [[trichoepithelioma]]s, [[transitional cell carcinoma]]s 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.<ref name="entrez"/>
Mutations of this gene have been associated with [[nevoid basal cell carcinoma syndrome]] (AKA Gorlin's Syndrome),<ref>{{cite journal |last1=Cantú-Reyna |first1=Consuelo |title=Mutation in the PTCH1 tumor suppressor gene in gorlin syndrome. A case report |journal=Acta Pediatr Esp |date=2014 |volume=72 |issue=11 |page=e407–e414 |url=https://www.researchgate.net/publication/311641777 |access-date=12 March 2019}}</ref> esophageal [[squamous cell carcinoma]], [[trichoepithelioma]]s, [[transitional cell carcinoma]]s 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.<ref name="entrez"/>


Mutatations in ''PTCH1'' cause Gorlin syndrome often with a midline cleft lip<ref name="pmid21331089">{{cite journal | author = Dixon MJ, Marazita ML, Beaty TH, Murray JC | title = Cleft lip and palate: understanding genetic and environmental influences | journal = Nat. Rev. Genet. | volume = 12 | issue = 3 | pages = 167–78 | year = 2011 | month = March | pmid = 21331089 | pmc = 3086810 | doi = 10.1038/nrg2933 }}</ref> and mutations have also been found in [[holoprosencephaly]] patients.<ref name="pmid11941477">{{cite journal |author=Ming JE, Kaupas ME, Roessler E, ''et al.'' |title=Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly |journal=Hum. Genet. |volume=110 |issue=4 |pages=297–301 |year=2002 |month=April |pmid=11941477 |doi=10.1007/s00439-002-0695-5 |url=}}</ref><ref name="pmid17096318">{{cite journal |author=Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC |title=GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? |journal=Am. J. Med. Genet. A |volume=140 |issue=23 |pages=2571–6 |year=2006 |month=December |pmid=17096318 |doi=10.1002/ajmg.a.31370 |url=}}</ref><ref name="pmid20583177">{{cite journal |author=Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CP, Richieri-Costa A |title=Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients |journal=Am. J. Med. Genet. A |volume=152A |issue=7 |pages=1688–94 |year=2010 |month=July |pmid=20583177 |doi=10.1002/ajmg.a.33466 |url=}}</ref> Some of these patients present [[cleft lip and palate]] among the [[holoprosencephaly]] features, and missense variants in ''PTCH1'' were also found in a sequencing screening of nonsyndromic [[cleft lip and palate]] patients.<ref name="pmid16405370">{{cite journal |author=Mansilla MA, Cooper ME, Goldstein T, ''et al.'' |title=Contributions of PTCH gene variants to isolated cleft lip and palate |journal=Cleft Palate Craniofac. J. |volume=43 |issue=1 |pages=21–9 |year=2006 |month=January |pmid=16405370 |pmc=2151847 |doi=10.1597/04-169R.1 |url=}}</ref> In addition association between SNPs in or near ''PTCH1'' have been found to be associated with nonsyndromic [[cleft lip and palate]].<ref name="pmid16405370" /><ref name="pmid19779022">{{cite journal |author=Moreno LM, Mansilla MA, Bullard SA, ''et al.'' |title=FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate |journal=Hum. Mol. Genet. |volume=18 |issue=24 |pages=4879–96 |year=2009 |month=December |pmid=19779022 |pmc=2778374 |doi=10.1093/hmg/ddp444 |url=}}</ref> Mutations in ''PTCH1'' are also associated with [[medulloblastoma]]<ref>{{cite journal|last=Jones|first=David T. W.|coauthors=Jäger, Natalie; Kool, Marcel; Zichner, Thomas; ''et al.''|title=Dissecting the genomic complexity underlying medulloblastoma|journal=Nature|doi=10.1038/nature11284}}</ref>.
Mutations in ''PTCH1'' cause [[Gorlin syndrome]] and mutations have also been found in [[holoprosencephaly]] patients.<ref name="pmid11941477">{{cite journal | vauthors = Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M | title = Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly | journal = Hum. Genet. | volume = 110 | issue = 4 | pages = 297–301 | date = April 2002 | pmid = 11941477 | doi = 10.1007/s00439-002-0695-5 | s2cid = 32865658 | url = https://zenodo.org/record/1232713}}</ref><ref name="pmid17096318">{{cite journal | vauthors = Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC | title = GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? | journal = Am. J. Med. Genet. A | volume = 140 | issue = 23 | pages = 2571–6 | date = December 2006 | pmid = 17096318 | doi = 10.1002/ajmg.a.31370 | s2cid = 21019963 }}</ref><ref name="pmid20583177">{{cite journal | vauthors = Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CP, Richieri-Costa A | title = Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients | journal = Am. J. Med. Genet. A | volume = 152A | issue = 7 | pages = 1688–94 | date = July 2010 | pmid = 20583177 | doi = 10.1002/ajmg.a.33466 | s2cid = 25445281 }}</ref> Some of these patients present [[cleft lip and palate]] among the [[holoprosencephaly]] features, and missense variants in ''PTCH1'' were also found in a sequencing screening of nonsyndromic [[cleft lip and palate]] patients.<ref name="pmid16405370">{{cite journal | vauthors = Mansilla MA, Cooper ME, Goldstein T, Castilla EE, Lopez Camelo JS, Marazita ML, Murray JC | title = Contributions of PTCH gene variants to isolated cleft lip and palate | journal = Cleft Palate Craniofac. J. | volume = 43 | issue = 1 | pages = 21–9 | date = January 2006 | pmid = 16405370 | pmc = 2151847 | doi = 10.1597/04-169R.1 }}</ref> In addition association between SNPs in or near ''PTCH1'' have been found to be associated with nonsyndromic [[cleft lip and palate]].<ref name="pmid16405370" /><ref name="pmid19779022">{{cite journal | vauthors = Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Machida J, Johnson MK, Brauer D, Krahn K, Daack-Hirsch S, L'heureux J, Valencia-Ramirez C, Rivera D, López AM, Moreno MA, Hing A, Lammer EJ, Jones M, Christensen K, Lie RT, Jugessur A, Wilcox AJ, Chines P, Pugh E, Doheny K, Arcos-Burgos M, Marazita ML, Murray JC, Lidral AC | title = FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate | journal = Hum. Mol. Genet. | volume = 18 | issue = 24 | pages = 4879–96 | date = December 2009 | pmid = 19779022 | pmc = 2778374 | doi = 10.1093/hmg/ddp444 }}</ref> Mutations in ''PTCH1'' are also associated with [[medulloblastoma]].<ref>{{cite journal | vauthors = Jones DT, Jäger N, Kool M, Zichner T, Hutter B, Sultan M, Cho YJ, Pugh TJ, Hovestadt V, Stütz AM, Rausch T, Warnatz HJ, Ryzhova M, Bender S, Sturm D, Pleier S, Cin H, Pfaff E, Sieber L, Wittmann A, Remke M, Witt H, Hutter S, Tzaridis T, Weischenfeldt J, Raeder B, Avci M, Amstislavskiy V, Zapatka M, Weber UD, Wang Q, Lasitschka B, Bartholomae CC, Schmidt M, von Kalle C, Ast V, Lawerenz C, Eils J, Kabbe R, Benes V, van Sluis P, Koster J, Volckmann R, Shih D, Betts MJ, Russell RB, Coco S, Tonini GP, Schüller U, Hans V, Graf N, Kim YJ, Monoranu C, Roggendorf W, Unterberg A, Herold-Mende C, Milde T, Kulozik AE, von Deimling A, Witt O, Maass E, Rössler J, Ebinger M, Schuhmann MU, Frühwald MC, Hasselblatt M, Jabado N, Rutkowski S, von Bueren AO, Williamson D, Clifford SC, McCabe MG, Collins VP, Wolf S, Wiemann S, Lehrach H, Brors B, Scheurlen W, Felsberg J, Reifenberger G, Northcott PA, Taylor MD, Meyerson M, Pomeroy SL, Yaspo ML, Korbel JO, Korshunov A, Eils R, Pfister SM, Lichter P | title = Dissecting the genomic complexity underlying medulloblastoma | journal = Nature | pmid = 22832583 | doi = 10.1038/nature11284 | volume=488 | issue=7409 | pmc=3662966 | date=August 2012 | pages=100–5| bibcode = 2012Natur.488..100J }}</ref>


== References ==
== References ==
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== Further reading ==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
*{{cite journal | vauthors=Villavicencio EH, Walterhouse DO, Iannaccone PM |title=The sonic hedgehog-patched-gli pathway in human development and disease. |journal=Am. J. Hum. Genet. |volume=67 |issue= 5 |pages= 1047–54 |year= 2000 |pmid= 11001584 |doi=10.1016/S0002-9297(07)62934-6 | pmc=1288546 }}
{{PBB_Further_reading
*{{cite journal | vauthors=Corcoran RB, Scott MP |title=A mouse model for medulloblastoma and basal cell nevus syndrome. |journal=J. Neurooncol. |volume=53 |issue= 3 |pages= 307–18 |year= 2002 |pmid= 11718263 |doi=10.1023/A:1012260318979 |s2cid=12886219 }}
| citations =
*{{cite journal | author=Villavicencio EH, Walterhouse DO, Iannaccone PM |title=The sonic hedgehog-patched-gli pathway in human development and disease. |journal=Am. J. Hum. Genet. |volume=67 |issue= 5 |pages= 1047–54 |year= 2000 |pmid= 11001584 |doi=10.1016/S0002-9297(07)62934-6 | pmc=1288546 }}
*{{cite journal | vauthors=Lindström E, Shimokawa T, Toftgård R, Zaphiropoulos PG |title=PTCH mutations: distribution and analyses. |journal=Hum. Mutat. |volume=27 |issue= 3 |pages= 215–9 |year= 2006 |pmid= 16419085 |doi= 10.1002/humu.20296 |s2cid=35694533 |doi-access=free }}
*{{cite journal | author=Corcoran RB, Scott MP |title=A mouse model for medulloblastoma and basal cell nevus syndrome. |journal=J. Neurooncol. |volume=53 |issue= 3 |pages= 307–18 |year= 2002 |pmid= 11718263 |doi=10.1023/A:1012260318979 }}
*{{cite journal |vauthors=Gailani MR, Bale SJ, Leffell DJ, etal |title=Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. |journal=Cell |volume=69 |issue= 1 |pages= 111–7 |year= 1992 |pmid= 1348213 |doi=10.1016/0092-8674(92)90122-S |s2cid=25784843 }}
*{{cite journal | author=Lindström E, Shimokawa T, Toftgård R, Zaphiropoulos PG |title=PTCH mutations: distribution and analyses. |journal=Hum. Mutat. |volume=27 |issue= 3 |pages= 215–9 |year= 2006 |pmid= 16419085 |doi= 10.1002/humu.20296 }}
*{{cite journal |vauthors=Hahn H, Christiansen J, Wicking C, etal |title=A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities. |journal=J. Biol. Chem. |volume=271 |issue= 21 |pages= 12125–8 |year= 1996 |pmid= 8647801 |doi=10.1074/jbc.271.18.10941 |doi-access=free }}
*{{cite journal | author=Gailani MR, Bale SJ, Leffell DJ, ''et al.'' |title=Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. |journal=Cell |volume=69 |issue= 1 |pages= 111–7 |year= 1992 |pmid= 1348213 |doi=10.1016/0092-8674(92)90122-S }}
*{{cite journal |vauthors=Hahn H, Wicking C, Zaphiropoulous PG, etal |title=Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. |journal=Cell |volume=85 |issue= 6 |pages= 841–51 |year= 1996 |pmid= 8681379 |doi=10.1016/S0092-8674(00)81268-4 |s2cid=16281524 |doi-access=free }}
*{{cite journal | author=Hahn H, Christiansen J, Wicking C, ''et al.'' |title=A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities. |journal=J. Biol. Chem. |volume=271 |issue= 21 |pages= 12125–8 |year= 1996 |pmid= 8647801 |doi=10.1074/jbc.271.18.10941 }}
*{{cite journal |vauthors=Gailani MR, Ståhle-Bäckdahl M, Leffell DJ, etal |title=The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. |journal=Nat. Genet. |volume=14 |issue= 1 |pages= 78–81 |year= 1996 |pmid= 8782823 |doi= 10.1038/ng0996-78 |s2cid=5221628 }}
*{{cite journal | author=Hahn H, Wicking C, Zaphiropoulous PG, ''et al.'' |title=Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. |journal=Cell |volume=85 |issue= 6 |pages= 841–51 |year= 1996 |pmid= 8681379 |doi=10.1016/S0092-8674(00)81268-4 }}
*{{cite journal |vauthors=Chidambaram A, Goldstein AM, Gailani MR, etal |title=Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. |journal=Cancer Res. |volume=56 |issue= 20 |pages= 4599–601 |year= 1996 |pmid= 8840969 }}
*{{cite journal | author=Gailani MR, Ståhle-Bäckdahl M, Leffell DJ, ''et al.'' |title=The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. |journal=Nat. Genet. |volume=14 |issue= 1 |pages= 78–81 |year= 1996 |pmid= 8782823 |doi= 10.1038/ng0996-78 }}
*{{cite journal | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 |doi-access=free }}
*{{cite journal | author=Chidambaram A, Goldstein AM, Gailani MR, ''et al.'' |title=Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. |journal=Cancer Res. |volume=56 |issue= 20 |pages= 4599–601 |year= 1996 |pmid= 8840969 |doi= }}
*{{cite journal |vauthors=Stone DM, Hynes M, Armanini M, etal |title=The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. |journal=Nature |volume=384 |issue= 6605 |pages= 129–34 |year= 1996 |pmid= 8906787 |doi= 10.1038/384129a0 |bibcode=1996Natur.384..129S |s2cid=4342540 }}
*{{cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
*{{cite journal |vauthors=Wicking C, Shanley S, Smyth I, etal |title=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. |journal=Am. J. Hum. Genet. |volume=60 |issue= 1 |pages= 21–6 |year= 1997 |pmid= 8981943 | pmc=1712561 }}
*{{cite journal | author=Stone DM, Hynes M, Armanini M, ''et al.'' |title=The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. |journal=Nature |volume=384 |issue= 6605 |pages= 129–34 |year= 1996 |pmid= 8906787 |doi= 10.1038/384129a0 }}
*{{cite journal |vauthors=Lench NJ, Telford EA, High AS, etal |title=Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome. |journal=Hum. Genet. |volume=100 |issue= 5–6 |pages= 497–502 |year= 1997 |pmid= 9341860 |doi=10.1007/s004390050541 |s2cid=944397 }}
*{{cite journal | author=Wicking C, Shanley S, Smyth I, ''et al.'' |title=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. |journal=Am. J. Hum. Genet. |volume=60 |issue= 1 |pages= 21–6 |year= 1997 |pmid= 8981943 |doi= | pmc=1712561 }}
*{{cite journal |vauthors=Aszterbaum M, Rothman A, Johnson RL, etal |title=Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. |journal=J. Invest. Dermatol. |volume=110 |issue= 6 |pages= 885–8 |year= 1998 |pmid= 9620294 |doi= 10.1046/j.1523-1747.1998.00222.x |doi-access= free }}
*{{cite journal | author=Lench NJ, Telford EA, High AS, ''et al.'' |title=Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome. |journal=Hum. Genet. |volume=100 |issue= 5-6 |pages= 497–502 |year= 1997 |pmid= 9341860 |doi=10.1007/s004390050541 }}
*{{cite journal |vauthors=Carpenter D, Stone DM, Brush J, etal |title=Characterization of two patched receptors for the vertebrate hedgehog protein family. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 23 |pages= 13630–4 |year= 1998 |pmid= 9811851 |doi=10.1073/pnas.95.23.13630 | pmc=24870 |bibcode=1998PNAS...9513630C |doi-access=free }}
*{{cite journal | author=Aszterbaum M, Rothman A, Johnson RL, ''et al.'' |title=Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. |journal=J. Invest. Dermatol. |volume=110 |issue= 6 |pages= 885–8 |year= 1998 |pmid= 9620294 |doi= 10.1046/j.1523-1747.1998.00222.x }}
*{{cite journal |vauthors=Liu JH, Wei S, Burnette PK, etal |title=Functional association of TGF-beta receptor II with cyclin B. |journal=Oncogene |volume=18 |issue= 1 |pages= 269–75 |year= 1999 |pmid= 9926943 |doi= 10.1038/sj.onc.1202263 |doi-access= free }}
*{{cite journal | author=Carpenter D, Stone DM, Brush J, ''et al.'' |title=Characterization of two patched receptors for the vertebrate hedgehog protein family. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 23 |pages= 13630–4 |year= 1998 |pmid= 9811851 |doi=10.1073/pnas.95.23.13630 | pmc=24870 }}
*{{cite journal |vauthors=Hasenpusch-Theil K, Bataille V, Laehdetie J, etal |title=Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online. |journal=Hum. Mutat. |volume=11 |issue= 6 |pages= 480 |year= 1999 |pmid= 10200051 |doi= 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU9>3.0.CO;2-4 |s2cid=42048593 |doi-access=free }}
*{{cite journal | author=Liu JH, Wei S, Burnette PK, ''et al.'' |title=Functional association of TGF-beta receptor II with cyclin B. |journal=Oncogene |volume=18 |issue= 1 |pages= 269–75 |year= 1999 |pmid= 9926943 |doi= 10.1038/sj.onc.1202263 }}
*{{cite journal |vauthors=Dong J, Gailani MR, Pomeroy SL, etal |title=Identification of PATCHED mutations in medulloblastomas by direct sequencing. |journal=Hum. Mutat. |volume=16 |issue= 1 |pages= 89–90 |year= 2000 |pmid= 10874314 |doi= 10.1002/1098-1004(200007)16:1<89::AID-HUMU18>3.0.CO;2-7 |s2cid=84143648 |doi-access= }}
*{{cite journal | author=Hasenpusch-Theil K, Bataille V, Laehdetie J, ''et al.'' |title=Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online. |journal=Hum. Mutat. |volume=11 |issue= 6 |pages= 480 |year= 1999 |pmid= 10200051 |doi= 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU9>3.0.CO;2-4 }}
*{{cite journal |vauthors=Reifenberger J, Arnold N, Kiechle M, etal |title=Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. |journal=J. Invest. Dermatol. |volume=116 |issue= 3 |pages= 472–4 |year= 2001 |pmid= 11231326 |doi= 10.1046/j.1523-1747.2001.01279-2.x |doi-access= free }}
*{{cite journal | author=Dong J, Gailani MR, Pomeroy SL, ''et al.'' |title=Identification of PATCHED mutations in medulloblastomas by direct sequencing. |journal=Hum. Mutat. |volume=16 |issue= 1 |pages= 89–90 |year= 2000 |pmid= 10874314 |doi= 10.1002/1098-1004(200007)16:1<89::AID-HUMU18>3.0.CO;2-7 }}
*{{cite journal | author=Reifenberger J, Arnold N, Kiechle M, ''et al.'' |title=Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. |journal=J. Invest. Dermatol. |volume=116 |issue= 3 |pages= 472–4 |year= 2001 |pmid= 11231326 |doi= 10.1046/j.1523-1747.2001.01279-2.x }}
}}
{{refend}}
{{refend}}


==External links==
==External links==
* [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns GeneReviews/NCBI/NIH/UW entry on Nevoid Basal Cell Carcinoma Syndrome]
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns GeneReviews/NCBI/NIH/UW entry on Nevoid Basal Cell Carcinoma Syndrome]
* [http://www.ncbi.nlm.nih.gov/books/NBK61984/ GeneReviews/NCBI/NIH/UW entry on 9q22.3 Microdeletion]
* [https://www.ncbi.nlm.nih.gov/books/NBK61984/ GeneReviews/NCBI/NIH/UW entry on 9q22.3 Microdeletion]
* [http://www.sdbonline.org/fly/segment/patched1.htm ''Drosophila'' ''patched'' - The Interactive Fly]
* [http://www.sdbonline.org/fly/segment/patched1.htm ''Drosophila'' ''patched'' - The Interactive Fly]
* {{UCSC genome browser|PTCH1}}
* {{UCSC gene details|PTCH1}}


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{{Tumor suppressor genes}}
{{Tumor suppressor genes}}
{{Hedgehog signaling pathway}}
{{Hedgehog signaling pathway}}


{{gene-9-stub}}

Latest revision as of 10:59, 23 December 2023

PTCH1
Identifiers
AliasesPTCH1, BCNS, HPE7, NBCCS, PTC, PTC1, PTCH, PTCH11, patched 1
External IDsOMIM: 601309; MGI: 105373; HomoloGene: 223; GeneCards: PTCH1; OMA:PTCH1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

5727

19206

Ensembl

ENSG00000185920

ENSMUSG00000021466

UniProt

Q13635

Q61115

RefSeq (mRNA)

NM_008957
NM_001328514

RefSeq (protein)

NP_001315443
NP_032983

Location (UCSC)Chr 9: 95.44 – 95.52 MbChr 13: 63.66 – 63.72 Mb
PubMed search[3][4]
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Protein patched homolog 1 is a protein that is the member of the patched family and in humans is encoded by the PTCH1 gene.[5][6]

Function

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PTCH1 is a member of the patched gene family and is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor. The PTCH1 gene product, is a transmembrane protein that suppresses the release of another protein called smoothened, and when sonic hedgehog binds PTCH1, smoothened is released and signals cell proliferation.

Clinical significance

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Mutations of this gene have been associated with nevoid basal cell carcinoma syndrome (AKA Gorlin's Syndrome),[7] 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.[6]

Mutations in PTCH1 cause Gorlin syndrome and mutations have also been found in holoprosencephaly patients.[8][9][10] Some of these patients present cleft lip and palate among the holoprosencephaly features, and missense variants in PTCH1 were also found in a sequencing screening of nonsyndromic cleft lip and palate patients.[11] In addition association between SNPs in or near PTCH1 have been found to be associated with nonsyndromic cleft lip and palate.[11][12] Mutations in PTCH1 are also associated with medulloblastoma.[13]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185920 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021466 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH, Scott MP (Aug 1996). "Human homolog of patched, a candidate gene for the basal cell nevus syndrome". Science. 272 (5268): 1668–71. Bibcode:1996Sci...272.1668J. doi:10.1126/science.272.5268.1668. PMID 8658145. S2CID 9160210.
  6. ^ a b "Entrez Gene: PTCH1 patched homolog 1 (Drosophila)".
  7. ^ Cantú-Reyna C (2014). "Mutation in the PTCH1 tumor suppressor gene in gorlin syndrome. A case report". Acta Pediatr Esp. 72 (11): e407–e414. Retrieved 12 March 2019.
  8. ^ Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M (April 2002). "Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly". Hum. Genet. 110 (4): 297–301. doi:10.1007/s00439-002-0695-5. PMID 11941477. S2CID 32865658.
  9. ^ Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC (December 2006). "GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?". Am. J. Med. Genet. A. 140 (23): 2571–6. doi:10.1002/ajmg.a.31370. PMID 17096318. S2CID 21019963.
  10. ^ Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CP, Richieri-Costa A (July 2010). "Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients". Am. J. Med. Genet. A. 152A (7): 1688–94. doi:10.1002/ajmg.a.33466. PMID 20583177. S2CID 25445281.
  11. ^ a b Mansilla MA, Cooper ME, Goldstein T, Castilla EE, Lopez Camelo JS, Marazita ML, Murray JC (January 2006). "Contributions of PTCH gene variants to isolated cleft lip and palate". Cleft Palate Craniofac. J. 43 (1): 21–9. doi:10.1597/04-169R.1. PMC 2151847. PMID 16405370.
  12. ^ Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Machida J, Johnson MK, Brauer D, Krahn K, Daack-Hirsch S, L'heureux J, Valencia-Ramirez C, Rivera D, López AM, Moreno MA, Hing A, Lammer EJ, Jones M, Christensen K, Lie RT, Jugessur A, Wilcox AJ, Chines P, Pugh E, Doheny K, Arcos-Burgos M, Marazita ML, Murray JC, Lidral AC (December 2009). "FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate". Hum. Mol. Genet. 18 (24): 4879–96. doi:10.1093/hmg/ddp444. PMC 2778374. PMID 19779022.
  13. ^ Jones DT, Jäger N, Kool M, Zichner T, Hutter B, Sultan M, Cho YJ, Pugh TJ, Hovestadt V, Stütz AM, Rausch T, Warnatz HJ, Ryzhova M, Bender S, Sturm D, Pleier S, Cin H, Pfaff E, Sieber L, Wittmann A, Remke M, Witt H, Hutter S, Tzaridis T, Weischenfeldt J, Raeder B, Avci M, Amstislavskiy V, Zapatka M, Weber UD, Wang Q, Lasitschka B, Bartholomae CC, Schmidt M, von Kalle C, Ast V, Lawerenz C, Eils J, Kabbe R, Benes V, van Sluis P, Koster J, Volckmann R, Shih D, Betts MJ, Russell RB, Coco S, Tonini GP, Schüller U, Hans V, Graf N, Kim YJ, Monoranu C, Roggendorf W, Unterberg A, Herold-Mende C, Milde T, Kulozik AE, von Deimling A, Witt O, Maass E, Rössler J, Ebinger M, Schuhmann MU, Frühwald MC, Hasselblatt M, Jabado N, Rutkowski S, von Bueren AO, Williamson D, Clifford SC, McCabe MG, Collins VP, Wolf S, Wiemann S, Lehrach H, Brors B, Scheurlen W, Felsberg J, Reifenberger G, Northcott PA, Taylor MD, Meyerson M, Pomeroy SL, Yaspo ML, Korbel JO, Korshunov A, Eils R, Pfister SM, Lichter P (August 2012). "Dissecting the genomic complexity underlying medulloblastoma". Nature. 488 (7409): 100–5. Bibcode:2012Natur.488..100J. doi:10.1038/nature11284. PMC 3662966. PMID 22832583.

Further reading

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