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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''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 | pmc =  | doi = 10.1126/science.272.5268.1668 }}</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| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Patched homolog 1 (Drosophila)
| HGNCid = 9585
| Symbol = PTCH1
| AltSymbols =; PTC; BCNS; FLJ42602; HPE7; NBCCS; PTC1; PTCH
| OMIM = 601309
| ECnumber = 
| Homologene = 223
| MGIid = 105373
| GeneAtlas_image1 = PBB_GE_PTCH1_209815_at_tn.png
| GeneAtlas_image2 = PBB_GE_PTCH1_208522_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_PTCH1_209816_at_tn.png
| Function = {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005113 |text = patched binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008158 |text = hedgehog receptor activity}} {{GNF_GO|id=GO:0008201 |text = heparin binding}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0001841 |text = neural tube formation}} {{GNF_GO|id=GO:0007049 |text = cell cycle}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007224 |text = smoothened signaling pathway}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}} {{GNF_GO|id=GO:0009953 |text = dorsal/ventral pattern formation}} {{GNF_GO|id=GO:0016485 |text = protein processing}} {{GNF_GO|id=GO:0030326 |text = embryonic limb morphogenesis}} {{GNF_GO|id=GO:0040015 |text = negative regulation of body size}} {{GNF_GO|id=GO:0043109 |text = regulation of smoothened activity}} {{GNF_GO|id=GO:0045786 |text = negative regulation of progression through cell cycle}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5727
    | Hs_Ensembl = ENSG00000185920
    | Hs_RefseqProtein = NP_000255
    | Hs_RefseqmRNA = NM_000264
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 97245083
    | Hs_GenLoc_end = 97318923
    | Hs_Uniprot = Q13635
    | Mm_EntrezGene = 19206
    | Mm_Ensembl = ENSMUSG00000021466
    | Mm_RefseqmRNA = NM_008957
    | Mm_RefseqProtein = NP_032983
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 13
    | Mm_GenLoc_start = 63520755
    | Mm_GenLoc_end = 63574742
    | Mm_Uniprot = Q3LG17
  }}
}}
'''Patched homolog 1 (Drosophila)''', also known as '''PTCH1''', is a human [[gene]].<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>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.
{{PBB_Summary
| section_title =
| summary_text = 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. This gene functions as a tumor suppressor. Mutations of this gene have been associated with nevoid basal cell carcinoma 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.<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>
}}


==References==
== Clinical significance ==
{{reflist|2}}
 
==Further reading==
Mutations of this gene have been associated with [[nevoid basal cell carcinoma syndrome]] (AKA Gorlin's 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 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 | url =  }}</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 | url =  }}</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 | 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 | 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 | 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 | 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 | url =  }}</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}}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{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 }}
| citations =
*{{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 }}
*{{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=  }}
*{{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 }}
*{{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=  }}
*{{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 }}
*{{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 }}
*{{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=  }}
*{{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 }}
*{{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=  }}
*{{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 }}
*{{cite journal | author=Johnson RL, Rothman AL, Xie J, ''et al.'' |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 |pmid= 8658145 |doi=  }}
*{{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 |doi= }}
*{{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= }}
*{{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 }}
*{{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=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 }}
*{{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=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 |doi= | pmc=1712561  }}
*{{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= }}
*{{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 }}
*{{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=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 }}
*{{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=  }}
*{{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 }}
*{{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= }}
*{{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 }}
*{{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=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 }}
*{{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=  }}
*{{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 }}
*{{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=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 }}
*{{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 | 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}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* [https://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/books/NBK61984/  GeneReviews/NCBI/NIH/UW entry on 9q22.3 Microdeletion]
* [http://www.sdbonline.org/fly/segment/patched1.htm ''Drosophila'' ''patched'' - The Interactive Fly]
* {{UCSC genome browser|PTCH1}}
* {{UCSC gene details|PTCH1}}
 
{{Tumor suppressor genes}}
{{Hedgehog signaling pathway}}

Latest revision as of 10:53, 28 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Protein patched homolog 1 is a protein that is the member of the patched family and in humans is encoded by the PTCH1 gene.[1][2]

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. 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

Mutations of this gene have been associated with nevoid basal cell carcinoma syndrome (AKA Gorlin's 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.[2]

Mutations in PTCH1 cause Gorlin syndrome and mutations have also been found in holoprosencephaly patients.[3][4][5] 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.[6] In addition association between SNPs in or near PTCH1 have been found to be associated with nonsyndromic cleft lip and palate.[6][7] Mutations in PTCH1 are also associated with medulloblastoma.[8]

References

  1. ↑ 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. doi:10.1126/science.272.5268.1668. PMID 8658145.
  2. ↑ 2.0 2.1 "Entrez Gene: PTCH1 patched homolog 1 (Drosophila)".
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 6.0 6.1 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.
  7. ↑ 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.
  8. ↑ 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. doi:10.1038/nature11284. PMC 3662966. PMID 22832583.

Further reading

External links

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