SNRPN

SNRPN
معین‌کننده‌ها
نام‌های دیگر	SNRPN, HCERN3, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-sm-N, Small nuclear ribonucleoprotein polypeptide N
شناسه‌های بیرونی	OMIM: 182279 MGI: 98347 HomoloGene: 68297 GeneCards: SNRPN
هستی‌شناسی ژن
عملکرد ملکولی	• GO:0001948، GO:0016582 پیوند پروتئینی; • RNA binding;
ترکیبات سلولی	• سیتوپلاسم; • U5 snRNP; • catalytic step 2 spliceosome; • U4/U6 x U5 tri-snRNP complex; • spliceosomal complex; • U4 snRNP; • small nuclear ribonucleoprotein complex; • U2-type prespliceosome; • هسته یاخته; • نوکلئوپلاسم; • U1 snRNP; • U2 snRNP;
فرایند زیستی	• پیرایش آران‌ای; • mRNA splicing, via spliceosome; • response to hormone;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	6638
	20646
	ENSG00000128739
	ن/م
	P63162
	P63163
	NM_001349455، NM_001349456، NM_001349457، NM_001349458، NM_001349459، NM_001349460، NM_001349461، NM_001349462، NM_001349463، NM_001349464، NM_001349465، NM_003097، NM_022805، NM_022806، NM_022807، NM_022808، NM_001378249، NM_001378251، NM_001378252، NM_001378253، NM_001378254، NM_001378255، NM_001378256، NM_001378257 NM_001349454، NM_001349455، NM_001349456، NM_001349457، NM_001349458، NM_001349459، NM_001349460، NM_001349461، NM_001349462، NM_001349463، NM_001349464، NM_001349465، NM_003097، NM_022805، NM_022806، NM_022807، NM_022808، NM_001378249، NM_001378251، NM_001378252، NM_001378253، NM_001378254، NM_001378255، NM_001378256، NM_001378257
	NM_001082962، NM_013670 NM_001082961، NM_001082962، NM_013670
	NP_073716، NP_073717، NP_073718، NP_073719، NP_001336383، NP_001336384، NP_001336385، NP_001336386، NP_001336387، NP_001336388، NP_001336389، NP_001336390، NP_001336391، NP_001336392، NP_001336393، NP_001336394، NP_001365178، NP_001365180، NP_001365181، NP_001365182، NP_001365183، NP_001365184، NP_001365185، NP_001365186 NP_003088، NP_073716، NP_073717، NP_073718، NP_073719، NP_001336383، NP_001336384، NP_001336385، NP_001336386، NP_001336387، NP_001336388، NP_001336389، NP_001336390، NP_001336391، NP_001336392، NP_001336393، NP_001336394، NP_001365178، NP_001365180، NP_001365181، NP_001365182، NP_001365183، NP_001365184، NP_001365185، NP_001365186
	NP_001076431، NP_038698، NP_001336619، NP_001336620، NP_001336621، NP_001336622، NP_001336623، NP_001336624 NP_001076430، NP_001076431، NP_038698، NP_001336619، NP_001336620، NP_001336621، NP_001336622، NP_001336623، NP_001336624
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

پلی‌پپتید اِن وابسته به ریبونوکلئوپروتئین هسته‌ای کوچک (انگلیسی: Small nuclear ribonucleoprotein-associated polypeptide N) یک پروتئین است که در انسان توسط ژن «SNRPN» کُدگذاری می‌شود.^[۳]^[۴] این پروتئین متعلق به خانوادهٔ اس‌ان‌آران‌پی «SMB/SMN» است که در پردازش‌های پیش از mRNA و به‌ویژه پیرایش دگرسان اختصاصی بافت‌ها نقش دارد.

اهمیت بالینی

پیرایش دگرسان یا حذف ژنی در اثر جابه‌جایی کروموزومی در این ناحیه ژنی که از پدر به ارث می‌رسد، می‌تواند باعث بروز سندرم پرادر–ویلی گردد.^[۴] از متیلاسیون این ژن در تشخیص دیزومی تک‌والدی در کروموزوم ۱۵ استفاده می‌شود.^[۵]

منابع

↑ "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.
↑ Schmauss C, Brines ML, Lerner MR (May 1992). "The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons". J Biol Chem. 267 (12): 8521–9. doi:10.1016/S0021-9258(18)42475-1. PMID 1533223.
1 2 "Entrez Gene: SNRPN small nuclear ribonucleoprotein polypeptide N".
↑ White HE, Durston VJ, Harvey JF, Cross NC (2006). "Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome". Clin. Chem. 52 (6): 1005–13. doi:10.1373/clinchem.2005.065086. PMID 16574761.

مشارکت‌کنندگان ویکی‌پدیا. «Small nuclear ribonucleoprotein polypeptide N». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۱۹ اکتبر ۲۰۲۱.

برای مطالعهٔ بیشتر

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Schmauss C, McAllister G, Ohosone Y, et al. (1989). "A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B'". Nucleic Acids Res. 17 (4): 1733–43. doi:10.1093/nar/17.4.1733. PMC 331831. PMID 2522186.
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Reed ML, Leff SE (1994). "Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome". Nat. Genet. 6 (2): 163–7. doi:10.1038/ng0294-163. PMID 7512861. S2CID 39792921.
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Esposito F, Fiore F, Cimino F, Russo T (1993). "Isolation and structural characterization of the rat gene encoding the brain specific snRNP-associated polypeptide "N"". Biochem. Biophys. Res. Commun. 195 (1): 317–26. doi:10.1006/bbrc.1993.2047. PMID 8363612.
Glenn CC, Saitoh S, Jong MT, et al. (1996). "Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene". Am. J. Hum. Genet. 58 (2): 335–46. PMC 1914536. PMID 8571960.
Dittrich B, Buiting K, Korn B, et al. (1996). "Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene". Nat. Genet. 14 (2): 163–70. doi:10.1038/ng1096-163. PMID 8841186. S2CID 20943659.
Sun Y, Nicholls RD, Butler MG, et al. (1996). "Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient". Hum. Mol. Genet. 5 (4): 517–24. doi:10.1093/hmg/5.4.517. PMC 6057871. PMID 8845846.
Buiting K, Dittrich B, Endele S, Horsthemke B (1997). "Identification of novel exons 3' to the human SNRPN gene". Genomics. 40 (1): 132–7. doi:10.1006/geno.1996.4571. PMID 9070929.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Fury MG, Zhang W, Christodoulopoulos I, Zieve GW (1998). "Multiple protein: protein interactions between the snRNP common core proteins". Exp. Cell Res. 237 (1): 63–9. doi:10.1006/excr.1997.3750. PMID 9417867.
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Kuslich CD, Kobori JA, Mohapatra G, et al. (1999). "Prader-Willi syndrome is caused by disruption of the SNRPN gene". Am. J. Hum. Genet. 64 (1): 70–6. doi:10.1086/302177. PMC 1377704. PMID 9915945.
Färber C, Dittrich B, Buiting K, Horsthemke B (1999). "The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion". Hum. Mol. Genet. 8 (2): 337–43. doi:10.1093/hmg/8.2.337. PMID 9931342.
Gray TA, Saitoh S, Nicholls RD (1999). "An imprinted, mammalian bicistronic transcript encodes two independent proteins". Proc. Natl. Acad. Sci. U.S.A. 96 (10): 5616–21. Bibcode:1999PNAS...96.5616G. doi:10.1073/pnas.96.10.5616. PMC 21909. PMID 10318933.
Gray TA, Smithwick MJ, Schaldach MA, et al. (2000). "Concerted regulation and molecular evolution of the duplicated SNRPB'/B and SNRPN loci". Nucleic Acids Res. 27 (23): 4577–84. doi:10.1093/nar/27.23.4577. PMC 148745. PMID 10556313.
Albuquerque D, Manco L, González L, et al. (2017). "Polymorphisms in the SRNPN gene are associated with obesity susceptibility among Spanish population". J. Gene Med. 19 (5): e2956. doi:10.1002/jgm.2956. PMID 28387446. S2CID 1860814.

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

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

[pmid1533223-3] Schmauss C, Brines ML, Lerner MR (May 1992). "The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons". J Biol Chem. 267 (12): 8521–9. doi:10.1016/S0021-9258(18)42475-1. PMID 1533223.

[entrez-4] 1 2 "Entrez Gene: SNRPN small nuclear ribonucleoprotein polypeptide N".

[5] White HE, Durston VJ, Harvey JF, Cross NC (2006). "Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome". Clin. Chem. 52 (6): 1005–13. doi:10.1373/clinchem.2005.065086. PMID 16574761.

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