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; • شیردهی; • 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

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

منابع

1 2 3 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

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[refGRCm38Ensembl-1] 1 2 3 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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