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Contents

   



(Top)
  


1 Function  




2 Clinical significance  




3 References  




4 Further reading  













Sodium-dependent neutral amino acid transporter B(0)AT1






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From Wikipedia, the free encyclopedia
  
(Redirected from SLC6A19)
SLC6A19
Identifiers
AliasesSLC6A19, B0AT1, HND, solute carrier family 6 member 19
External IDsOMIM: 608893; MGI: 1921588; HomoloGene: 52819; GeneCards: SLC6A19; OMA:SLC6A19 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

340024

74338

Ensembl

ENSG00000174358

ENSMUSG00000021565

UniProt

Q695T7

Q9D687

RefSeq (mRNA)

NM_001003841

NM_028878
NM_001359603

RefSeq (protein)

NP_001003841

NP_083154
NP_001346532

Location (UCSC)Chr 5: 1.2 – 1.23 MbChr 13: 73.83 – 73.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium-dependent neutral amino acid transporter B(0)AT1 is a protein that in humans is encoded by the SLC6A19 gene.[5]

Function

[edit]

SLC6A19 is a system B(0) transporter that mediates epithelial resorption of neutral amino acids across the apical membrane in the kidney and intestine.[6][7]

Clinical significance

[edit]

Mutations in the SLC6A19 gene cause Hartnup disease.[5][8]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000174358 – Ensembl, May 2017
  • ^ a b c 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.
  • ^ a b 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. S2CID 155361.
  • ^ 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.

    • Further reading

    [edit]
    • 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. S2CID 27812953.
  • 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. S2CID 10229286.
  • 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. S2CID 20101533.
  • 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. S2CID 46125073.

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