SLC6A19

SLC6A19
معین‌کننده‌ها
نام‌های دیگر	SLC6A19, B0AT1, HND, solute carrier family 6 member 19
شناسه‌های بیرونی	OMIM: 608893 MGI: 1921588 HomoloGene: 52819 GeneCards: SLC6A19
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)[1]
End	73,704,865 bp[1]
هستی‌شناسی ژن
عملکرد ملکولی	• neurotransmitter:sodium symporter activity; • neutral amino acid transmembrane transporter activity; • symporter activity; • amino acid transmembrane transporter activity; • GO:0001948 پیوند پروتئینی;
ترکیبات سلولی	• integral component of membrane; • brush border membrane; • پوسته یاخته; • integral component of plasma membrane; • extracellular exosome; • membrane; • apical plasma membrane;
فرایند زیستی	• neurotransmitter transport; • amino acid transport; • neutral amino acid transport; • response to nutrient; • transmembrane transport; • amino acid transmembrane transport; • transport;
	Sources:آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	340024
	74338
	ENSG00000174358
	ENSMUSG00000021565
	Q695T7
	Q9D687
	NM_001003841
	NM_001359603 NM_028878، NM_001359603
	NP_001003841
	NP_001346532 NP_083154، NP_001346532
	ویکی‌داده
مشاهده/ویرایش Human	View/Edit Mouse

انتقال‌دهنده B(0)AT1 اسید آمینه خنثی وابسته به سدیم (انگلیسی: Sodium-dependent neutral amino acid transporter B(0)AT1‎) یک پروتئین است که در انسان توسط ژن «SLC6A19» کُدگذاری می‌شود.[4]

عملکرد

این پروتئین یک انتقال‌دهنده اسید آمینه سیستم B(0) است که در جذب اسیدهای آمینهٔ خنثی از خلال غشای سلولی بافت پوششی کلیه‌ها و روده‌ها دخالت دارد.[5][6]

اهمیت بالینی

جهش در ژن «SLC6A19»، سبب بروز بیماری هارت ناپ می‌شود.[4][7]

منابع

GRCm38: Ensembl release 89: ENSMUSG00000021565 - 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.
Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A (September 2004). "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder". Nat. Genet. 36 (9): 999–1002. doi:10.1038/ng1405. PMID 15286787.
Bröer A, Klingel K, Kowalczuk S, Rasko JE, Cavanaugh J, Bröer S (June 2004). "Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder". J. Biol. Chem. 279 (23): 24467–24476. doi:10.1074/jbc.M400904200. PMID 15044460.
Bröer S (January 2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiol. Rev. 88 (1): 249–286. doi:10.1152/physrev.00018.2006. PMID 18195088.
Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE (September 2004). "Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19". Nat. Genet. 36 (9): 1003–1007. doi:10.1038/ng1406. PMID 15286788.

مشارکت‌کنندگان ویکی‌پدیا. «Sodium-dependent neutral amino acid transporter B(0)AT1». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۱۵ آوریل ۲۰۲۰.

برای مطالعهٔ بیشتر

Seol SY, Lee SY, Kim YD, et al. (2008). "Minisatellite polymorphisms of the SLC6A19: susceptibility in hypertension". Biochem. Biophys. Res. Commun. 374 (4): 714–719. doi:10.1016/j.bbrc.2008.07.094. PMID 18671945.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
Azmanov DN, Kowalczuk S, Rodgers H, et al. (2008). "Further evidence for allelic heterogeneity in Hartnup disorder". Hum. Mutat. 29 (10): 1217–1221. doi:10.1002/humu.20777. PMID 18484095.
Nozaki J, Dakeishi M, Ohura T, et al. (2001). "Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder". Biochem. Biophys. Res. Commun. 284 (2): 255–260. doi:10.1006/bbrc.2001.4961. PMID 11394870.
Zheng Y, Zhou C, Huang Y, et al. (2009). "A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder". Int. J. Dermatol. 48 (4): 388–392. doi:10.1111/j.1365-4632.2009.03989.x. PMID 19335424.
Mitsuoka K, Shirasaka Y, Fukushi A, et al. (2009). "Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells". Biopharm Drug Dispos. 30 (3): 126–137. doi:10.1002/bdd.653. PMID 19322909.
Azmanov DN, Rodgers H, Auray-Blais C, et al. (2007). "Persistence of the common Hartnup disease D173N allele in populations of European origin". Ann. Hum. Genet. 71 (Pt 6): 755–761. doi:10.1111/j.1469-1809.2007.00375.x. PMID 17555458.

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[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000021565 - 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.

[pmid15286787-4] Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A (September 2004). "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder". Nat. Genet. 36 (9): 999–1002. doi:10.1038/ng1405. PMID 15286787.

[pmid15044460-5] Bröer A, Klingel K, Kowalczuk S, Rasko JE, Cavanaugh J, Bröer S (June 2004). "Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder". J. Biol. Chem. 279 (23): 24467–24476. doi:10.1074/jbc.M400904200. PMID 15044460.

[pmid18195088-6] Bröer S (January 2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiol. Rev. 88 (1): 249–286. doi:10.1152/physrev.00018.2006. PMID 18195088.

[pmid15286788-7] Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE (September 2004). "Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19". Nat. Genet. 36 (9): 1003–1007. doi:10.1038/ng1406. PMID 15286788.