PTCH1

PTCH1
معین‌کننده‌ها
نام‌های دیگر	PTCH1, BCNS, HPE7, NBCCS, PTC, PTC1, PTCH, PTCH11, patched 1
شناسه‌های بیرونی	OMIM: 601309 MGI: 105373 HomoloGene: 223 GeneCards: PTCH1
موقعیت ژن (موش)
کروموزوم	کروموزوم ۱۳ (موش)
پایان	63,721,412 bp
الگوی گسترش RNA
	; ; ; ;
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• heparin binding; • smoothened binding; • cholesterol binding; • patched binding; • GO:0001948، GO:0016582 پیوند پروتئینی; • hedgehog receptor activity; • hedgehog family protein binding; • cyclin binding; • GO:0032403 protein-containing complex binding;
ترکیبات سلولی	• integral component of membrane; • endocytic vesicle membrane; • dendritic growth cone; • دستگاه گلژی; • intracellular membrane-bounded organelle; • GO:0097483، GO:0097481 postsynaptic density; • membrane; • پوسته یاخته; • axonal growth cone; • midbody; • ciliary membrane; • perinuclear region of cytoplasm; • حفره غشایی; • مژک; • هسته یاخته;
فرایند زیستی	• pattern specification process; • renal system development; • neural plate axis specification; • response to estradiol; • limb morphogenesis; • negative regulation of smoothened signaling pathway; • GO:1904578 response to organic cyclic compound; • response to retinoic acid; • glucose homeostasis; • embryonic organ development; • cell proliferation involved in metanephros development; • negative regulation of multicellular organism growth; • protein processing; • response to mechanical stimulus; • heart morphogenesis; • epidermal cell fate specification; • in utero embryonic development; • GO:1901227 negative regulation of transcription by RNA polymerase II; • hindlimb morphogenesis; • negative regulation of DNA-binding transcription factor activity; • negative regulation of osteoblast differentiation; • mammary gland epithelial cell differentiation; • somite development; • cellular response to cholesterol; • regulation of protein localization; • GO:0060469، GO:0009371 positive regulation of transcription, DNA-templated; • mammary gland duct morphogenesis; • mammary gland development; • neural tube patterning; • regulation of smoothened signaling pathway; • branching involved in ureteric bud morphogenesis; • neural tube closure; • brain development; • keratinocyte proliferation; • negative regulation of cell division; • smoothened signaling pathway involved in dorsal/ventral neural tube patterning; • regulation of cell population proliferation; • embryonic limb morphogenesis; • positive regulation of cholesterol efflux; • regulation of mitotic cell cycle; • negative regulation of epithelial cell proliferation; • epidermis development; • animal organ morphogenesis; • cell differentiation involved in kidney development; • cell fate determination; • response to chlorate; • regulation of growth; • مسیر سیگنال‌دهی خارپشتی; • dorsal/ventral neural tube patterning; • spinal cord motor neuron differentiation; • GO:0045996 negative regulation of transcription, DNA-templated; • positive regulation of epidermal cell differentiation; • dorsal/ventral pattern formation; • neural tube formation; • GO:0072468 ورارسانی پیام; • negative regulation of cell population proliferation; • pharyngeal system development; • prostate gland development; • commissural neuron axon guidance; • protein localization to plasma membrane; • liver regeneration;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	5727
	19206
	ENSG00000185920
	ENSMUSG00000021466
	Q13635
	Q61115
	NM_001083602، NM_001083603، NM_001083604، NM_001083605، NM_001083606، NM_001083607، NM_001354918، NM_001354919، NR_149061 NM_000264، NM_001083602، NM_001083603، NM_001083604، NM_001083605، NM_001083606، NM_001083607، NM_001354918، NM_001354919، NR_149061
	NM_001328514 NM_008957، NM_001328514
	NP_001077071، NP_001077072، NP_001077073، NP_001077074، NP_001077075، NP_001077076، NP_001341847، NP_001341848 NP_000255، NP_001077071، NP_001077072، NP_001077073، NP_001077074، NP_001077075، NP_001077076، NP_001341847، NP_001341848
	NP_032983 NP_001315443، NP_032983
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

PTCH1 یک پروتئین است که در انسان توسط ژن «PTCH1» کُدگذاری می‌شود. این ژن نوعی ژن سرکوب‌گر تومور است.^[۴]^[۵]

اهمیت بالینی

جهش‌های این ژن با سندرم کارسینومای سلول بازال نووید (مشهور به سندرم گورلین)،^[۶] کارسینوم سلول سنگفرشی مری، کارسینوم سلول‌های ترانزیشنال مثانه، لب‌شکری،^[۷]^[۸] مدولوبلاستوما^[۹] و همچنین هولوپروزنسفالی^[۱۰]^[۱۱]^[۱۲] مرتبط است.

منابع

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000021466 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ "Entrez Gene: PTCH1 patched homolog 1 (Drosophila)".
↑ Cantú-Reyna, Consuelo (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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.

برای مطالعهٔ بیشتر

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. doi:10.1016/S0002-9297(07)62934-6. PMC 1288546. PMID 11001584.
Corcoran RB, Scott MP (2002). "A mouse model for medulloblastoma and basal cell nevus syndrome". J. Neurooncol. 53 (3): 307–18. doi:10.1023/A:1012260318979. PMID 11718263. S2CID 12886219.
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. S2CID 35694533.
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. doi:10.1016/0092-8674(92)90122-S. PMID 1348213. S2CID 25784843.
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. doi:10.1074/jbc.271.18.10941. PMID 8647801.
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. doi:10.1016/S0092-8674(00)81268-4. PMID 8681379. S2CID 16281524.
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. S2CID 5221628.
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. doi:10.1101/gr.6.9.791. 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. Bibcode:1996Natur.384..129S. doi:10.1038/384129a0. PMID 8906787. S2CID 4342540.
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. PMC 1712561. 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. doi:10.1007/s004390050541. PMID 9341860. S2CID 944397.
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. Bibcode:1998PNAS...9513630C. doi:10.1073/pnas.95.23.13630. PMC 24870. 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. S2CID 42048593.
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. S2CID 84143648.
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.

پیوند به بیرون

مکان ژن انسانی PTCH1 در مرورگر ژنومی UCSC.
جزئیات ژن انسانی PTCH1 در مرورگر ژنومی UCSC.

این یک مقالهٔ خرد زیست‌شناسی مولکولی است. می‌توانید با گسترش آن به ویکی‌پدیا کمک کنید.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000021466 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8658145-4] 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.

[entrez-5] "Entrez Gene: PTCH1 patched homolog 1 (Drosophila)".

[6] Cantú-Reyna, Consuelo (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.

[pmid16405370-7] 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.

[pmid19779022-8] 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.

[9] 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.

[pmid11941477-10] 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.

[pmid17096318-11] 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.

[pmid20583177-12] 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.

[۱]

[۲]

[۳]

[۴]

[۵]

[۶]

[۷]

[۸]

[۹]

[۱۰]

[۱۱]

[۱۲]