SLC6A19

SLC6A19
Identifiers
Aliases	SLC6A19, B0AT1, HND, solute carrier family 6 member 19
External IDs	OMIM: 608893; MGI: 1921588; GeneCards: SLC6A19
Gene location (Human)
Chr.	Chromosome 5 (human)
End	1,225,111 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	73,852,984 bp
RNA expression pattern
	Top expressed in
	mucosa of ileum; ; jejunal mucosa; ; duodenum; ; human kidney; ; renal medulla; ; rectum; ; mucosa of colon; ; gallbladder; ; mucosa of sigmoid colon; ; renal cortex;
	Top expressed in
	jejunum; ; ileum; ; right kidney; ; human kidney; ; epithelium of small intestine; ; lumbar spinal ganglion; ; duodenum; ; esophagus; ; lip; ; Paneth cell;
	More reference expression data
	n/a
Gene ontology
Molecular function	neurotransmitter:sodium symporter activity; neutral amino acid transmembrane transporter activity; symporter activity; amino acid transmembrane transporter activity; protein binding;
Cellular component	integral component of membrane; brush border membrane; plasma 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
Databases	NCBI: entry; OMA: entry
	340024
	74338
	ENSG00000174358
	ENSMUSG00000021565
	Q695T7
	Q9D687
	NM_001003841
	NM_028878; NM_001359603
	NP_001003841
	NP_083154; NP_001346532
	Wikidata
View/Edit Human	View/Edit Mouse

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

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.

Clinical significance

Mutations in the SLC6A19 gene cause Hartnup disease.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000174358 – Ensembl, May 2017
1 2 3 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.
1 2 Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, et al. (September 2004). "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder". Nature Genetics. 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". Journal of Biological Chemistry. 279 (23): 24467–24476. doi:10.1074/jbc.M400904200. PMID 15044460.
↑ Bröer S (January 2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiological Reviews. 88 (1): 249–286. doi:10.1152/physrev.00018.2006. PMID 18195088.
↑ Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, et al. (September 2004). "Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19". Nature Genetics. 36 (9): 1003–1007. doi:10.1038/ng1406. PMID 15286788.

Lee SY, Kim YD, Do E, Kwon J, Kim S, Chu I, et al. (Oct 2008). "Minisatellite polymorphisms of the SLC6A19: susceptibility in hypertension". Biochemical and Biophysical Research Communications. 374 (4): 714–719. doi:10.1016/j.bbrc.2008.07.094. PMID 18671945.
Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, et al. (Jan 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nature Genetics. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
Kowalczuk S, Rodgers H, Auray-Blais C, Giguère R, Rasko JE, Bröer S, et al. (Oct 2008). "Further evidence for allelic heterogeneity in Hartnup disorder". Human Mutation. 29 (10): 1217–1221. doi:10.1002/humu.20777. PMID 18484095. S2CID 27812953.
Dakeishi M, Ohura T, Inoue K, Manabe M, Wada Y, Koizumi A, et al. (Jun 2001). "Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder". Biochemical and Biophysical Research Communications. 284 (2): 255–260. doi:10.1006/bbrc.2001.4961. PMID 11394870.
Zhou C, Huang Y, Bu D, Zhu X, Jiang W, Zheng Y (Apr 2009). "A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder". International Journal of Dermatology. 48 (4): 388–392. doi:10.1111/j.1365-4632.2009.03989.x. PMID 19335424. S2CID 10229286.
Shirasaka Y, Fukushi A, Sato M, Nakamura T, Nakanishi T, Tamai I, et al. (Apr 2009). "Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells". Biopharmaceutics & Drug Disposition. 30 (3): 126–137. doi:10.1002/bdd.653. PMID 19322909. S2CID 20101533.
D, Rodgers H, Auray-Blais C, Giguère R, Bailey C, Bröer S, et al. (Nov 2007). "Persistence of the common Hartnup disease D173N allele in populations of European origin". Annals of Human Genetics. 71 (Pt 6): 755–761. doi:10.1111/j.1469-1809.2007.00375.x. PMID 17555458. S2CID 46125073.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000174358 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[Kleta_2004-5] 1 2 Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, et al. (September 2004). "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder". Nature Genetics. 36 (9): 999–1002. doi:10.1038/ng1405. PMID 15286787. S2CID 155361.

[Broer_2004-6] 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". Journal of Biological Chemistry. 279 (23): 24467–24476. doi:10.1074/jbc.M400904200. PMID 15044460.

[Broer_2008-7] Bröer S (January 2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiological Reviews. 88 (1): 249–286. doi:10.1152/physrev.00018.2006. PMID 18195088.

[Seow_2004-8] Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, et al. (September 2004). "Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19". Nature Genetics. 36 (9): 1003–1007. doi:10.1038/ng1406. PMID 15286788.

SLC6A19

Function

Clinical significance

References

Further reading