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Gene Review

PTCH1  -  patched 1

Homo sapiens

Synonyms: BCNS, HPE7, NBCCS, PTC, PTC1, ...
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Disease relevance of PTCH1


High impact information on PTCH1


Chemical compound and disease context of PTCH1


Biological context of PTCH1


Anatomical context of PTCH1


Associations of PTCH1 with chemical compounds

  • CONCLUSIONS: Mutations in PTEN and PTCH are unlikely to cause juvenile polyposis in the absence of clinical features indicative of CS, BRRS, or GS [17].
  • In the two missense mutations, the strong basic residue arginine was substituted by serine or glycine in highly conserved components of the putative transmembrane domain of PTCH, and these mutations may therefore affect the conformation and function of the PTCH protein [18].
  • We analyzed loss of heterozygosity (LOH) at five markers in and around the PTCH gene in 276 keratinocyte tumors from a population-based study in New Hampshire. We found a high prevalence of any 9q22.3 LOH in both BCC (75.5%) and SCC (60.8%), with BCC being significantly more likely to have LOH than SCC (P<0.009) [19].
  • No abnormalities in the human homologue of the Drosophila segment polarity gene patched (PTCH), glutathione S-transferases T1 and M1, or cytochrome P450 1A1 were detected by polymerase chain reaction (PCR)-based molecular analysis [20].
  • The localization of a CGG/CCG repeat in PTCH is quite unique in that only four other genes have been found in which the repeat is localized up to 4 bp upstream of the first methionine [21].

Physical interactions of PTCH1

  • This repression is relieved when SHH binds to PTCH [22].
  • The functional part of SNX17 that binds P-selectin or Patched (PTCH) consists of a truncated FERM domain and a unique C terminus together (FC-unit) [23].

Regulatory relationships of PTCH1

  • Additionally, deletion mapping of PTCH1 has revealed that the domains encompassed by amino acids 180-786 and 1058-1210 are of highest significance in inhibiting GLI1 gene activation [24].
  • It now appears that constitutive activation of Hedgehog signalling, by inactivating mutations in PTCH1 or activating mutations in the coreceptor SMOH, is required and possibly sufficient for basal cell carcinoma development and also contributes to the formation of a variety of other tumour types, including medulloblastoma and rhabdomyosarcoma [25].
  • These findings suggest that PTCH mutations represent an earlier event in BCC development than p53 alterations and that the inability of XP patients to repair UV-induced PTCH mutations might significantly contribute to the early and frequent appearance of BCC observed in these patients [26].
  • PHS mutant protein (GLI3-PHS) localizes to the nucleus and represses GLI3-activated PTCH1 expression, which is similar to Ci75 [27].
  • Here, we show that RET/PTC1 activates the Rap1 small GTPase [28].

Other interactions of PTCH1


Analytical, diagnostic and therapeutic context of PTCH1


  1. Mutations in SUFU predispose to medulloblastoma. Taylor, M.D., Liu, L., Raffel, C., Hui, C.C., Mainprize, T.G., Zhang, X., Agatep, R., Chiappa, S., Gao, L., Lowrance, A., Hao, A., Goldstein, A.M., Stavrou, T., Scherer, S.W., Dura, W.T., Wainwright, B., Squire, J.A., Rutka, J.T., Hogg, D. Nat. Genet. (2002) [Pubmed]
  2. Activating Smoothened mutations in sporadic basal-cell carcinoma. Xie, J., Murone, M., Luoh, S.M., Ryan, A., Gu, Q., Zhang, C., Bonifas, J.M., Lam, C.W., Hynes, M., Goddard, A., Rosenthal, A., Epstein, E.H., de Sauvage, F.J. Nature (1998) [Pubmed]
  3. Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice. Aszterbaum, M., Epstein, J., Oro, A., Douglas, V., LeBoit, P.E., Scott, M.P., Epstein, E.H. Nat. Med. (1999) [Pubmed]
  4. The developmental biology of brain tumors. Wechsler-Reya, R., Scott, M.P. Annu. Rev. Neurosci. (2001) [Pubmed]
  5. Ornithine decarboxylase is a target for chemoprevention of basal and squamous cell carcinomas in Ptch1+/- mice. Tang, X., Kim, A.L., Feith, D.J., Pegg, A.E., Russo, J., Zhang, H., Aszterbaum, M., Kopelovich, L., Epstein, E.H., Bickers, D.R., Athar, M. J. Clin. Invest. (2004) [Pubmed]
  6. Ptc1p regulates cortical ER inheritance via Slt2p. Du, Y., Walker, L., Novick, P., Ferro-Novick, S. EMBO J. (2006) [Pubmed]
  7. Induction of a proinflammatory program in normal human thyrocytes by the RET/PTC1 oncogene. Borrello, M.G., Alberti, L., Fischer, A., Degl'innocenti, D., Ferrario, C., Gariboldi, M., Marchesi, F., Allavena, P., Greco, A., Collini, P., Pilotti, S., Cassinelli, G., Bressan, P., Fugazzola, L., Mantovani, A., Pierotti, M.A. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  8. DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. Marsh, A., Wicking, C., Wainwright, B., Chenevix-Trench, G. Hum. Mutat. (2005) [Pubmed]
  9. Vertebral abnormalities associated with synthetic retinoid use. Gerber, L.H., Helfgott, R.K., Gross, E.G., Hicks, J.E., Ellenberg, S.S., Peck, G.L. J. Am. Acad. Dermatol. (1984) [Pubmed]
  10. 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. Am. J. Hum. Genet. (1997) [Pubmed]
  11. Characterization of two patched receptors for the vertebrate hedgehog protein family. Carpenter, D., Stone, D.M., Brush, J., Ryan, A., Armanini, M., Frantz, G., Rosenthal, A., de Sauvage, F.J. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  12. Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays. Nagao, K., Togawa, N., Fujii, K., Uchikawa, H., Kohno, Y., Yamada, M., Miyashita, T. Hum. Mol. Genet. (2005) [Pubmed]
  13. Deletions of AXIN1, a component of the WNT/wingless pathway, in sporadic medulloblastomas. Dahmen, R.P., Koch, A., Denkhaus, D., Tonn, J.C., Sörensen, N., Berthold, F., Behrens, J., Birchmeier, W., Wiestler, O.D., Pietsch, T. Cancer Res. (2001) [Pubmed]
  14. Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. Reifenberger, J., Wolter, M., Weber, R.G., Megahed, M., Ruzicka, T., Lichter, P., Reifenberger, G. Cancer Res. (1998) [Pubmed]
  15. PTCH gene mutations in invasive transitional cell carcinoma of the bladder. McGarvey, T.W., Maruta, Y., Tomaszewski, J.E., Linnenbach, A.J., Malkowicz, S.B. Oncogene (1998) [Pubmed]
  16. Expression of Sonic hedgehog pathway genes is altered in colonic neoplasia. Oniscu, A., James, R.M., Morris, R.G., Bader, S., Malcomson, R.D., Harrison, D.J. J. Pathol. (2004) [Pubmed]
  17. Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Woodford-Richens, K., Bevan, S., Churchman, M., Dowling, B., Jones, D., Norbury, C.G., Hodgson, S.V., Desai, D., Neale, K., Phillips, R.K., Young, J., Leggett, B., Dunlop, M., Rozen, P., Eng, C., Markie, D., Rodriguez-Bigas, M.A., Sheridan, E., Iwama, T., Eccles, D., Smith, G.T., Kim, J.C., Kim, K.M., Sampson, J.R., Evans, G., Tejpar, S., Bodmer, W.F., Tomlinson, I.P., Houlston, R.S. Gut (2000) [Pubmed]
  18. Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. Tanioka, M., Takahashi, K., Kawabata, T., Kosugi, S., Murakami, K., Miyachi, Y., Nishigori, C., Iizuka, T. Arch. Dermatol. Res. (2005) [Pubmed]
  19. Allelic loss at Drosophila patched gene is highly prevalent in Basal and squamous cell carcinomas of the skin. Danaee, H., Karagas, M.R., Kelsey, K.T., Perry, A.E., Nelson, H.H. J. Invest. Dermatol. (2006) [Pubmed]
  20. Multiple basal cell carcinomas associated with hairy cell leukaemia. Schön, M.P., Reifenberger, J., Von Schmiedeberg, S., Megahed, M., Lang, K., Gattermann, N., Meckenstock, G., Goerz, G., Ruzicka, T. Br. J. Dermatol. (1999) [Pubmed]
  21. Identification of a novel polymorphism involving a CGG repeat in the PTCH gene and a genome-wide screening of CGG-containing genes. Nagao, K., Fujii, K., Yamada, M., Miyashita, T. J. Hum. Genet. (2004) [Pubmed]
  22. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Ming, J.E., Kaupas, M.E., Roessler, E., Brunner, H.G., Golabi, M., Tekin, M., Stratton, R.F., Sujansky, E., Bale, S.J., Muenke, M. Hum. Genet. (2002) [Pubmed]
  23. Functions of sorting nexin 17 domains and recognition motif for P-selectin trafficking. Knauth, P., Schlüter, T., Czubayko, M., Kirsch, C., Florian, V., Schreckenberger, S., Hahn, H., Bohnensack, R. J. Mol. Biol. (2005) [Pubmed]
  24. Inhibition of GLI1 gene activation by Patched1. Rahnama, F., Shimokawa, T., Lauth, M., Finta, C., Kogerman, P., Teglund, S., Toftgård, R., Zaphiropoulos, P.G. Biochem. J. (2006) [Pubmed]
  25. Hedgehog signalling in cancer. Toftgård, R. Cell. Mol. Life Sci. (2000) [Pubmed]
  26. 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) [Pubmed]
  27. GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. Shin, S.H., Kogerman, P., Lindström, E., Toftgárd, R., Biesecker, L.G. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  28. RET/Papillary Thyroid Carcinoma Oncogenic Signaling through the Rap1 Small GTPase. De Falco, V., Castellone, M.D., De Vita, G., Cirafici, A.M., Hershman, J.M., Guerrero, C., Fusco, A., Melillo, R.M., Santoro, M. Cancer Res. (2007) [Pubmed]
  29. APC mutations in sporadic medulloblastomas. Huang, H., Mahler-Araujo, B.M., Sankila, A., Chimelli, L., Yonekawa, Y., Kleihues, P., Ohgaki, H. Am. J. Pathol. (2000) [Pubmed]
  30. Deregulation of the hedgehog signalling pathway: a possible role for the PTCH and SUFU genes in human rhabdomyoma and rhabdomyosarcoma development. Tostar, U., Malm, C.J., Meis-Kindblom, J.M., Kindblom, L.G., Toftgård, R., Undén, A.B. J. Pathol. (2006) [Pubmed]
  31. Immunolocalization of PTCH protein in odontogenic cysts and tumors. Barreto, D.C., Bale, A.E., De Marco, L., Gomez, R.S. J. Dent. Res. (2002) [Pubmed]
  32. Mutations of the p53 and PTCH gene in basal cell carcinomas: UV mutation signature and strand bias. Kim, M.Y., Park, H.J., Baek, S.C., Byun, D.G., Houh, D. J. Dermatol. Sci. (2002) [Pubmed]
  33. Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Cajaiba, M.M., Bale, A.E., Alvarez-Franco, M., McNamara, J., Reyes-M??gica, M. Nature clinical practice. Oncology. (2006) [Pubmed]
  34. Nuclear envelope irregularity is induced by RET/PTC during interphase. Fischer, A.H., Taysavang, P., Jhiang, S.M. Am. J. Pathol. (2003) [Pubmed]
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