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

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

SLC6A19
Identifiers
Aliases	SLC6A19, B0AT1, HND, solute carrier family 6 member 19
External IDs	OMIM: 608893 MGI: 1921588 HomoloGene: 52819 GeneCards: SLC6A19
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5p15.33 Start 1,201,595 bp[1] End 1,225,111 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 C1 Start 73,679,745 bp[2] End 73,704,865 bp[2]
Gene ontology Molecular function • neurotransmitter:sodium symporter activity • neutral amino acid transmembrane transporter activity • symporter activity • amino acid transmembrane transporter activity • GO:0001948 protein binding Cellular component • integral component of membrane • brush border membrane • cell membrane • integral component of plasma membrane • extracellular exosome • membrane • apical plasma membrane Biological process • neurotransmitter transport • amino acid transport • neutral amino acid transport • response to nutrient • transmembrane transport • amino acid transmembrane transport • transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
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 Mb	Chr 13: 73.68 – 73.7 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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

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

References

1. GRCh38: Ensembl release 89: ENSG00000174358 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021565 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. 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.
8. 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

• 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.