ناقل ۱ متعادل‌کننده نوکلئوزید

SLC29A1
معین‌کننده‌ها
نام‌های دیگر	SLC29A1, ENT1, Equilibrative nucleoside transporter 1, solute carrier family 29 member 1 (Augustine blood group)
شناسه‌های بیرونی	OMIM: 602193 MGI: 1927073 HomoloGene: 37985 GeneCards: SLC29A1
موقعیت ژن (موش)
کروموزوم	کروموزوم ۱۷ (موش)
پایان	45,599,606 bp
الگوی گسترش RNA
	; ;
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• nucleoside transmembrane transporter activity;
ترکیبات سلولی	• postsynapse; • integral component of membrane; • پوسته یاخته; • basolateral plasma membrane; • integral component of plasma membrane; • apical plasma membrane; • membrane; • presynapse;
فرایند زیستی	• nucleoside transport; • uridine transport; • خواب; • lactation; • nucleoside transmembrane transport; • nucleobase-containing compound metabolic process; • cellular response to hypoxia; • excitatory postsynaptic potential; • cellular response to glucose stimulus; • GO:0015915 transport; • بازجذب;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	2030
	63959
	ENSG00000112759
	ENSMUSG00000023942
	Q99808
	Q9JIM1
	NM_001078174، NM_001078175، NM_001078176، NM_001078177، NM_001304462، NM_001304463، NM_001304465، NM_001304466، NM_004955، XM_005248876، XM_005248878، XM_005248880، XM_005248881، XM_005248882، NM_001372327 XM_011514341، NM_001078174، NM_001078175، NM_001078176، NM_001078177، NM_001304462، NM_001304463، NM_001304465، NM_001304466، NM_004955، XM_005248876، XM_005248878، XM_005248880، XM_005248881، XM_005248882، NM_001372327
	NM_001199114، NM_001199115، NM_001199116، NM_022880، XM_006524768، XM_006524769، XM_006524770، XM_006524772، XM_006524773، NM_001357771، XM_030249965، XM_030249966، XM_030249967، XM_030249968، XM_030249969، XM_030249970 NM_001199113، NM_001199114، NM_001199115، NM_001199116، NM_022880، XM_006524768، XM_006524769، XM_006524770، XM_006524772، XM_006524773، NM_001357771، XM_030249965، XM_030249966، XM_030249967، XM_030249968، XM_030249969، XM_030249970
	NP_001071645، NP_001291391، NP_001291394، NP_001291395، XP_005248933، XP_005248935، XP_005248936، XP_005248937، XP_005248938، XP_005248939، XP_011512643، XP_024302116، NP_001359256 NP_001071643، NP_001071645، NP_001291391، NP_001291394، NP_001291395، XP_005248933، XP_005248935، XP_005248936، XP_005248937، XP_005248938، XP_005248939، XP_011512643، XP_024302116، NP_001359256
	NP_001186043، NP_001186044، NP_001186045، NP_075018، XP_006524836، NP_001344700، XP_030105826، NP_001363916، NP_001363917، NP_001363918، NP_001363919، NP_001363920، NP_001363921، NP_001363922، NP_001363923، NP_001363924، NP_001363925، NP_001363926، NP_001363927، XP_036016627، XP_036016628، XP_036016629 NP_001186042، NP_001186043، NP_001186044، NP_001186045، NP_075018، XP_006524836، NP_001344700، XP_030105826، NP_001363916، NP_001363917، NP_001363918، NP_001363919، NP_001363920، NP_001363921، NP_001363922، NP_001363923، NP_001363924، NP_001363925، NP_001363926، NP_001363927، XP_036016627، XP_036016628، XP_036016629
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

ناقل ۱ متعادل‌کننده نوکلئوزید (انگلیسی: Equilibrative nucleoside transporter 1) یک پروتئین است که در انسان توسط ژن «SLC29A1» کُدگذاری می‌شود.^[۴]^[۵]

اهمیت بالینی ویرایش

جهش در این ژن با بروز سندرم اچ، پرمویی به‌همراه لکه‌های پوستی، دیابت وابسته به انسولین و سندرم فیصل‌آباد در ارتباط است.^[۶]

منابع ویرایش

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000023942 - 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.
↑ Griffiths M, Beaumont N, Yao SY, Sundaram M, Boumah CE, Davies A, Kwong FY, Coe I, Cass CE, Young JD, Baldwin SA (Jan 1997). "Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs". Nat Med. 3 (1): 89–93. doi:10.1038/nm0197-89. PMID 8986748.
↑ Coe IR, Griffiths M, Young JD, Baldwin SA, Cass CE (Feb 1998). "Assignment of the human equilibrative nucleoside transporter (hENT1) to 6p21.1-p21.2". Genomics. 45 (2): 459–60. doi:10.1006/geno.1997.4928. PMID 9344680.
↑ Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, Caillez D, Emile JF, Pastor-Anglada M, Abel L, Puel A, Govindarajan R, de Pontual L, Casanova JL (2012). "A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant". PLoS ONE. 7 (1): e29708. doi:10.1371/journal.pone.0029708. PMC 3251605. PMID 22238637.

مشارکت‌کنندگان ویکی‌پدیا. «Equilibrative nucleoside transporter 1». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۶ فوریه ۲۰۱۹.

برای مطالعهٔ بیشتر ویرایش

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.
Griffiths M, Yao SY, Abidi F, et al. (1998). "Molecular cloning and characterization of a nitrobenzylthioinosine-insensitive (ei) equilibrative nucleoside transporter from human placenta". Biochem. J. 328 (3): 739–43. doi:10.1042/bj3280739. PMC 1218980. PMID 9396714.
Lum PY, Ngo LY, Bakken AH, Unadkat JD (2000). "Human intestinal es nucleoside transporter: molecular characterization and nucleoside inhibitory profiles". Cancer Chemother. Pharmacol. 45 (4): 273–8. doi:10.1007/s002800050040. PMID 10755314.
Sundaram M, Yao SY, Ingram JC, et al. (2002). "Topology of a human equilibrative, nitrobenzylthioinosine (NBMPR)-sensitive nucleoside transporter (hENT1) implicated in the cellular uptake of adenosine and anti-cancer drugs". J. Biol. Chem. 276 (48): 45270–5. doi:10.1074/jbc.M107169200. PMID 11584005.
SenGupta DJ, Lum PY, Lai Y, et al. (2002). "A single glycine mutation in the equilibrative nucleoside transporter gene, hENT1, alters nucleoside transport activity and sensitivity to nitrobenzylthioinosine". Biochemistry. 41 (5): 1512–9. doi:10.1021/bi015833w. PMID 11814344.
Yao SY, Ng AM, Vickers MF, et al. (2002). "Functional and molecular characterization of nucleobase transport by recombinant human and rat equilibrative nucleoside transporters 1 and 2. Chimeric constructs reveal a role for the ENT2 helix 5-6 region in nucleobase translocation". J. Biol. Chem. 277 (28): 24938–48. doi:10.1074/jbc.M200966200. PMID 12006583.
Galmarini CM, Thomas X, Calvo F, et al. (2002). "Potential mechanisms of resistance to cytarabine in AML patients". Leuk. Res. 26 (7): 621–9. doi:10.1016/S0145-2126(01)00184-9. PMID 12008078.
Lai Y, Bakken AH, Unadkat JD (2002). "Simultaneous expression of hCNT1-CFP and hENT1-YFP in Madin-Darby canine kidney cells. Localization and vectorial transport studies". J. Biol. Chem. 277 (40): 37711–7. doi:10.1074/jbc.M204986200. PMID 12097333.
Sankar N, Machado J, Abdulla P, et al. (2002). "Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity". Nucleic Acids Res. 30 (20): 4339–50. doi:10.1093/nar/gkf564. PMC 137128. PMID 12384580.
Reiman T, Clarke ML, Dabbagh L, et al. (2003). "Differential expression of human equilibrative nucleoside transporter 1 (hENT1) protein in the Reed-Sternberg cells of Hodgkin's disease". Leuk. Lymphoma. 43 (7): 1435–40. doi:10.1080/1042819022386725. PMID 12389626.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Mangravite LM, Xiao G, Giacomini KM (2003). "Localization of human equilibrative nucleoside transporters, hENT1 and hENT2, in renal epithelial cells". Am. J. Physiol. Renal Physiol. 284 (5): F902–10. doi:10.1152/ajprenal.00215.2002. PMID 12527552.
Szkotak AJ, Ng AM, Man SF, et al. (2003). "Coupling of CFTR-mediated anion secretion to nucleoside transporters and adenosine homeostasis in Calu-3 cells". J. Membr. Biol. 192 (3): 169–79. doi:10.1007/s00232-002-1073-x. PMID 12820662.
Lai Y, Tse CM, Unadkat JD (2004). "Mitochondrial expression of the human equilibrative nucleoside transporter 1 (hENT1) results in enhanced mitochondrial toxicity of antiviral drugs". J. Biol. Chem. 279 (6): 4490–7. doi:10.1074/jbc.M307938200. PMID 14607828.
Lehner B, Semple JI, Brown SE, et al. (2004). "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region". Genomics. 83 (1): 153–67. doi:10.1016/S0888-7543(03)00235-0. PMID 14667819.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Endres CJ, Sengupta DJ, Unadkat JD (2004). "Mutation of leucine-92 selectively reduces the apparent affinity of inosine, guanosine, NBMPR [S6-(4-nitrobenzyl)-mercaptopurine riboside] and dilazep for the human equilibrative nucleoside transporter, hENT1". Biochem. J. 380 (Pt 1): 131–7. doi:10.1042/BJ20031880. PMC 1224139. PMID 14759222.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.

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: ENSMUSG00000023942 - 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.

[pmid8986748-4] Griffiths M, Beaumont N, Yao SY, Sundaram M, Boumah CE, Davies A, Kwong FY, Coe I, Cass CE, Young JD, Baldwin SA (Jan 1997). "Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs". Nat Med. 3 (1): 89–93. doi:10.1038/nm0197-89. PMID 8986748.

[pmid9344680-5] Coe IR, Griffiths M, Young JD, Baldwin SA, Cass CE (Feb 1998). "Assignment of the human equilibrative nucleoside transporter (hENT1) to 6p21.1-p21.2". Genomics. 45 (2): 459–60. doi:10.1006/geno.1997.4928. PMID 9344680.

[pmid22238637-6] Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, Caillez D, Emile JF, Pastor-Anglada M, Abel L, Puel A, Govindarajan R, de Pontual L, Casanova JL (2012). "A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant". PLoS ONE. 7 (1): e29708. doi:10.1371/journal.pone.0029708. PMC 3251605. PMID 22238637.

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