PTCH1

From Wikipedia, the free encyclopedia

Patched homolog 1 (Drosophila)

Identifiers

PTCH1; PTC; BCNS; FLJ42602; HPE7; NBCCS; PTC1; PTCH

External IDs

OMIM: 601309 MGI: 105373 HomoloGene: 223

Gene ontology
Molecular Function:	• receptor activity • patched binding • protein binding • hedgehog receptor activity • heparin binding
Cellular Component:	• integral to plasma membrane • membrane • integral to membrane
Biological Process:	• neural tube formation • cell cycle • signal transduction • smoothened signaling pathway • cell proliferation • organ morphogenesis • dorsal/ventral pattern formation • protein processing • embryonic limb morphogenesis • negative regulation of body size • regulation of smoothened activity • negative regulation of progression through cell cycle

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000264 (mRNA)
NP_000255 (protein)

NM_008957 (mRNA)
NP_032983 (protein)

Location

Chr 9: 97.25 - 97.32 Mb

Chr 13: 63.52 - 63.57 Mb

Pubmed search

[1]

[2]

Patched homolog 1 (Drosophila), also known as PTCH1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: PTCH1 patched homolog 1 (Drosophila).

[edit] Further reading

Villavicencio EH, Walterhouse DO, Iannaccone PM (2000). "The sonic hedgehog-patched-gli pathway in human development and disease.". Am. J. Hum. Genet. 67 (5): 1047–54. PMID 11001584.
Corcoran RB, Scott MP (2002). "A mouse model for medulloblastoma and basal cell nevus syndrome.". J. Neurooncol. 53 (3): 307–18. PMID 11718263.
Lindström E, Shimokawa T, Toftgård R, Zaphiropoulos PG (2006). "PTCH mutations: distribution and analyses.". Hum. Mutat. 27 (3): 215–9. doi:10.1002/humu.20296. PMID 16419085.
Gailani MR, Bale SJ, Leffell DJ, et al. (1992). "Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9.". Cell 69 (1): 111–7. PMID 1348213.
Hahn H, Christiansen J, Wicking C, et al. (1996). "A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities.". J. Biol. Chem. 271 (21): 12125–8. PMID 8647801.
Johnson RL, Rothman AL, Xie J, et al. (1996). "Human homolog of patched, a candidate gene for the basal cell nevus syndrome.". Science 272 (5268): 1668–71. PMID 8658145.
Hahn H, Wicking C, Zaphiropoulous PG, et al. (1996). "Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.". Cell 85 (6): 841–51. PMID 8681379.
Gailani MR, Ståhle-Bäckdahl M, Leffell DJ, et al. (1996). "The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas.". Nat. Genet. 14 (1): 78–81. doi:10.1038/ng0996-78. PMID 8782823.
Chidambaram A, Goldstein AM, Gailani MR, et al. (1996). "Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.". Cancer Res. 56 (20): 4599–601. PMID 8840969.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
Stone DM, Hynes M, Armanini M, et al. (1996). "The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog.". Nature 384 (6605): 129–34. doi:10.1038/384129a0. PMID 8906787.
Wicking C, Shanley S, Smyth I, et al. (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.". Am. J. Hum. Genet. 60 (1): 21–6. PMID 8981943.
Lench NJ, Telford EA, High AS, et al. (1997). "Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome.". Hum. Genet. 100 (5-6): 497–502. PMID 9341860.
Aszterbaum M, Rothman A, Johnson RL, et al. (1998). "Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.". J. Invest. Dermatol. 110 (6): 885–8. doi:10.1046/j.1523-1747.1998.00222.x. PMID 9620294.
Carpenter D, Stone DM, Brush J, et al. (1998). "Characterization of two patched receptors for the vertebrate hedgehog protein family.". Proc. Natl. Acad. Sci. U.S.A. 95 (23): 13630–4. PMID 9811851.
Liu JH, Wei S, Burnette PK, et al. (1999). "Functional association of TGF-beta receptor II with cyclin B.". Oncogene 18 (1): 269–75. doi:10.1038/sj.onc.1202263. PMID 9926943.
Hasenpusch-Theil K, Bataille V, Laehdetie J, et al. (1999). "Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online.". Hum. Mutat. 11 (6): 480. doi:10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU9>3.0.CO;2-4. PMID 10200051.
Dong J, Gailani MR, Pomeroy SL, et al. (2000). "Identification of PATCHED mutations in medulloblastomas by direct sequencing.". Hum. Mutat. 16 (1): 89–90. doi:10.1002/1098-1004(200007)16:1<89::AID-HUMU18>3.0.CO;2-7. PMID 10874314.
Reifenberger J, Arnold N, Kiechle M, et al. (2001). "Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer.". J. Invest. Dermatol. 116 (3): 472–4. doi:10.1046/j.1523-1747.2001.01279-2.x. PMID 11231326.