Sodium-dependent neutral amino acid transporter B(0)AT1: Difference between revisions

SLC6A19
Identifiers
Aliases	SLC6A19, B0AT1, HND, solute carrier family 6 member 19
External IDs	OMIM: 608893; MGI: 1921588; HomoloGene: 52819; GeneCards: SLC6A19; OMA:SLC6A19 - orthologs
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
	jejunal mucosa; ; duodenum; ; kidney; ; renal medulla; ; rectum; ; gallbladder; ; renal cortex; ; metanephros; ; vein; ; islet of Langerhans;
	Top expressed in
	jejunum; ; ileum; ; kidney; ; duodenum; ; esophagus; ; lip; ; Paneth cell; ; skin of abdomen; ; renal cortex; ; outer renal medulla;
	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
	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

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Revision as of 11:26, 14 August 2023

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

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

^ ^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.

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.

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

[refGRCm38Ensembl-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.

[pmid15286787-5] 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. S2CID 155361.

[pmid15044460-6] 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.

[pmid18195088-7] 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.

[pmid15286788-8] 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.

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[2]

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@@ Line 1: / Line 1: @@
+{{Short description|Protein-coding gene in the species Homo sapiens}}
-{{PBB|geneid=340024}}
+{{Infobox_gene}}
-'''Solute carrier family 6 member 19''' also known as the '''sodium-dependent neutral amino acid transporter B(0)AT1''' or '''system B(0) neutral amino acid transporter AT1''' is a [[protein]] that in humans is encoded by the ''SLC6A19'' [[gene]].<ref name="pmid15286787">{{cite journal | author = 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 | title = Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder | journal = Nat. Genet. | volume = 36 | issue = 9 | pages = 999–1002 |date=September 2004 | pmid = 15286787 | doi = 10.1038/ng1405 | url = | issn = }}</ref>
+'''Sodium-dependent neutral amino acid transporter B(0)AT1''' is a [[protein]] that in humans is encoded by the ''SLC6A19'' [[gene]].<ref name="pmid15286787">{{cite journal |vauthors=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 | title = Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder | journal = Nat. Genet. | volume = 36 | issue = 9 | pages = 999–1002 |date=September 2004 | pmid = 15286787 | doi = 10.1038/ng1405 | s2cid = 155361 | doi-access = free }}</ref>
 == Function ==
-SLC6A19 is a system B(0) [[amino acid transporter|transporter]] that mediates epithelial resorption of neutral amino acids across the [[apical membrane]] in the kidney and intestine.<ref name="pmid15044460">{{cite journal | author = Bröer A, Klingel K, Kowalczuk S, Rasko JE, Cavanaugh J, Bröer S | title = Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder | journal = J. Biol. Chem. | volume = 279 | issue = 23 | pages = 24467–24476 |date=June 2004 | pmid = 15044460 | doi = 10.1074/jbc.M400904200 | url = | issn = }}</ref><ref name="pmid18195088">{{cite journal | author = Bröer S | title = Amino acid transport across mammalian intestinal and renal epithelia | journal = Physiol. Rev. | volume = 88 | issue = 1 | pages = 249–286 |date=January 2008 | pmid = 18195088 | doi = 10.1152/physrev.00018.2006 | url = | issn = }}</ref>
+SLC6A19 is a system B(0) [[amino acid transporter|transporter]] that mediates epithelial resorption of neutral amino acids across the [[apical membrane]] in the kidney and intestine.<ref name="pmid15044460">{{cite journal |vauthors=Bröer A, Klingel K, Kowalczuk S, Rasko JE, Cavanaugh J, Bröer S | title = Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder | journal = J. Biol. Chem. | volume = 279 | issue = 23 | pages = 24467–24476 |date=June 2004 | pmid = 15044460 | doi = 10.1074/jbc.M400904200 | doi-access = free }}</ref><ref name="pmid18195088">{{cite journal | author = Bröer S | title = Amino acid transport across mammalian intestinal and renal epithelia | journal = Physiol. Rev. | volume = 88 | issue = 1 | pages = 249–286 |date=January 2008 | pmid = 18195088 | doi = 10.1152/physrev.00018.2006 }}</ref>
 == Clinical significance ==
-Mutations in the SLC6A19 gene cause [[Hartnup disease]].<ref name="pmid15286787"/><ref name="pmid15286788">{{cite journal | author = Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE | title = Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19 | journal = Nat. Genet. | volume = 36 | issue = 9 | pages = 1003–1007 |date=September 2004 | pmid = 15286788 | doi = 10.1038/ng1406 | url = | issn = }}</ref>
+Mutations in the SLC6A19 gene cause [[Hartnup disease]].<ref name="pmid15286787"/><ref name="pmid15286788">{{cite journal |vauthors=Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE | title = Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19 | journal = Nat. Genet. | volume = 36 | issue = 9 | pages = 1003–1007 |date=September 2004 | pmid = 15286788 | doi = 10.1038/ng1406 | doi-access = free }}</ref>
 == References ==
@@ Line 16: / Line 17: @@
 {{refbegin | 2}}
-*{{cite journal  |author=Seol SY |title=Minisatellite polymorphisms of the SLC6A19: susceptibility in hypertension |journal=Biochem. Biophys. Res. Commun. |volume=374 |issue= 4 |pages= 714–719 |year= 2008 |pmid= 18671945 |doi= 10.1016/j.bbrc.2008.07.094  |author-separator=,  |author2=Lee SY  |author3=Kim YD  |display-authors=3  |last4=Do  |first4=E  |last5=Kwon  |first5=J  |last6=Kim  |first6=S  |last7=Chu  |first7=I  |last8=Leem  |first8=S }}
+*{{cite journal  |author=Seol SY |title=Minisatellite polymorphisms of the SLC6A19: susceptibility in hypertension |journal=Biochem. Biophys. Res. Commun. |volume=374 |issue= 4 |pages= 714–719 |year= 2008 |pmid= 18671945 |doi= 10.1016/j.bbrc.2008.07.094  |name-list-style=vanc|author2=Lee SY  |author3=Kim YD  |display-authors=3  |last4=Do  |first4=E  |last5=Kwon  |first5=J  |last6=Kim  |first6=S  |last7=Chu  |first7=I  |last8=Leem  |first8=S }}
-*{{cite journal  |author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–45 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285  |author-separator=,  |author2=Suzuki Y  |author3=Nishikawa T  |display-authors=3  |last4=Otsuki  |first4=Tetsuji  |last5=Sugiyama  |first5=Tomoyasu  |last6=Irie  |first6=Ryotaro  |last7=Wakamatsu  |first7=Ai  |last8=Hayashi  |first8=Koji  |last9=Sato  |first9=Hiroyuki }}
+*{{cite journal  |author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–45 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285  |name-list-style=vanc|author2=Suzuki Y  |author3=Nishikawa T  |display-authors=3  |last4=Otsuki  |first4=Tetsuji  |last5=Sugiyama  |first5=Tomoyasu  |last6=Irie  |first6=Ryotaro  |last7=Wakamatsu  |first7=Ai  |last8=Hayashi  |first8=Koji  |last9=Sato  |first9=Hiroyuki |doi-access=free  }}
-*{{cite journal  |author=Azmanov DN |title=Further evidence for allelic heterogeneity in Hartnup disorder |journal=Hum. Mutat. |volume=29 |issue= 10 |pages= 1217–1221 |year= 2008 |pmid= 18484095 |doi= 10.1002/humu.20777  |author-separator=,  |author2=Kowalczuk S  |author3=Rodgers H  |display-authors=3  |last4=Auray-Blais  |first4=Christiane  |last5=Giguère  |first5=Robert  |last6=Rasko  |first6=John E.J.  |last7=Bröer  |first7=Stefan  |last8=Cavanaugh  |first8=Juleen A. }}
+*{{cite journal  |author=Azmanov DN |title=Further evidence for allelic heterogeneity in Hartnup disorder |journal=Hum. Mutat. |volume=29 |issue= 10 |pages= 1217–1221 |year= 2008 |pmid= 18484095 |doi= 10.1002/humu.20777  |name-list-style=vanc|author2=Kowalczuk S  |author3=Rodgers H  |display-authors=3  |last4=Auray-Blais  |first4=Christiane  |last5=Giguère  |first5=Robert  |last6=Rasko  |first6=John E.J.  |last7=Bröer  |first7=Stefan  |last8=Cavanaugh  |first8=Juleen A. |s2cid=27812953 }}
-*{{cite journal  |author=Nozaki  J |title=Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder |journal=Biochem. Biophys. Res. Commun. |volume=284 |issue= 2 |pages= 255–260 |year= 2001 |pmid= 11394870 |doi= 10.1006/bbrc.2001.4961  |author-separator=,  |author2=Dakeishi M  |author3=Ohura T  |display-authors=3  |last4=Inoue  |first4=K  |last5=Manabe  |first5=M  |last6=Wada  |first6=Y  |last7=Koizumi  |first7=A }}
+*{{cite journal  |author=Nozaki J |title=Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder |journal=Biochem. Biophys. Res. Commun. |volume=284 |issue= 2 |pages= 255–260 |year= 2001 |pmid= 11394870 |doi= 10.1006/bbrc.2001.4961  |name-list-style=vanc|author2=Dakeishi M  |author3=Ohura T  |display-authors=3  |last4=Inoue  |first4=K  |last5=Manabe  |first5=M  |last6=Wada  |first6=Y  |last7=Koizumi  |first7=A }}
-*{{cite journal  |author=Zheng Y |title=A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder |journal=Int. J. Dermatol. |volume=48 |issue= 4 |pages= 388–392 |year= 2009 |pmid= 19335424 |doi= 10.1111/j.1365-4632.2009.03989.x  |author-separator=,  |author2=Zhou C  |author3=Huang Y  |display-authors=3  |last4=Bu  |first4=Dingfang  |last5=Zhu  |first5=Xuejun  |last6=Jiang  |first6=Wei }}
+*{{cite journal  |author=Zheng Y |title=A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder |journal=Int. J. Dermatol. |volume=48 |issue= 4 |pages= 388–392 |year= 2009 |pmid= 19335424 |doi= 10.1111/j.1365-4632.2009.03989.x  |name-list-style=vanc|author2=Zhou C  |author3=Huang Y  |display-authors=3  |last4=Bu  |first4=Dingfang  |last5=Zhu  |first5=Xuejun  |last6=Jiang  |first6=Wei |s2cid=10229286 }}
-*{{cite journal  |author=Mitsuoka K |title=Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells |journal=Biopharm Drug Dispos |volume=30 |issue= 3 |pages= 126–137 |year= 2009 |pmid= 19322909 |doi= 10.1002/bdd.653  |author-separator=,  |author2=Shirasaka Y  |author3=Fukushi A  |display-authors=3  |last4=Sato  |first4=Masanobu  |last5=Nakamura  |first5=Toshimichi  |last6=Nakanishi  |first6=Takeo  |last7=Tamai  |first7=Ikumi }}
+*{{cite journal  |author=Mitsuoka K |title=Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells |journal=Biopharm Drug Dispos |volume=30 |issue= 3 |pages= 126–137 |year= 2009 |pmid= 19322909 |doi= 10.1002/bdd.653  |name-list-style=vanc|author2=Shirasaka Y  |author3=Fukushi A  |display-authors=3  |last4=Sato  |first4=Masanobu  |last5=Nakamura  |first5=Toshimichi  |last6=Nakanishi  |first6=Takeo  |last7=Tamai  |first7=Ikumi |s2cid=20101533 }}
-*{{cite journal  |author=Azmanov DN |title=Persistence of the common Hartnup disease D173N allele in populations of European origin |journal=Ann. Hum. Genet. |volume=71 |issue= Pt 6 |pages= 755–761 |year= 2007 |pmid= 17555458 |doi= 10.1111/j.1469-1809.2007.00375.x  |author-separator=,  |author2=Rodgers H  |author3=Auray-Blais C  |display-authors=3  |last4=Giguère  |first4=Robert  |last5=Bailey  |first5=Charles  |last6=Bröer  |first6=Stefan  |last7=Rasko  |first7=John E. J.  |last8=Cavanaugh  |first8=Juleen A. }}
+*{{cite journal  |author=Azmanov DN |title=Persistence of the common Hartnup disease D173N allele in populations of European origin |journal=Ann. Hum. Genet. |volume=71 |issue= Pt 6 |pages= 755–761 |year= 2007 |pmid= 17555458 |doi= 10.1111/j.1469-1809.2007.00375.x  |name-list-style=vanc|author2=Rodgers H  |author3=Auray-Blais C  |display-authors=3  |last4=Giguère  |first4=Robert  |last5=Bailey  |first5=Charles  |last6=Bröer  |first6=Stefan  |last7=Rasko  |first7=John E. J.  |last8=Cavanaugh  |first8=Juleen A. |s2cid=46125073 }}
 {{refend}}
 {{Membrane transport proteins}}
+[[Category:Solute carrier family]]

Revision as of 11:26, 14 August 2023

Function

Clinical significance

References

Further reading