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)[۱] نوار 13 B3|13 32.8 cM شروع 63,656,142 bp[۱] پایان 63,721,412 bp[۱]
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
گونه‌ها	انسان	موش
Entrez	5727	19206
آنسامبل	ENSG00000185920	ENSMUSG00000021466
یونی‌پروت	Q13635	Q61115
RefSeq (mRNA)	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
RefSeq (پروتئین)	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
موقعیت (UCSC)	ن/م	Chr : 63.66 – 63.72 Mb
جستجوی PubMed	[۲]	[۳]
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

1. GRCm38: Ensembl release 89: ENSMUSG00000021466 - Ensembl, May 2017
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3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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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.
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.
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.

برای مطالعهٔ بیشتر

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پیوند به بیرون

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