Sodium- and chloride-dependent betaine transporter

SLC6A12
Identifiers
Aliases	SLC6A12, BGT-1, BGT1, GAT2, solute carrier family 6 member 12
External IDs	OMIM: 603080; MGI: 95628; HomoloGene: 128225; GeneCards: SLC6A12; OMA:SLC6A12 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	214,570 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	121,342,734 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; putamen; ; right frontal lobe; ; human kidney; ; caudate nucleus; ; cingulate gyrus; ; anterior cingulate cortex; ; amygdala; ; prefrontal cortex; ; nucleus accumbens;
	Top expressed in
	decidua; ; gastrula; ; left lobe of liver; ; embryo; ; granulocyte; ; neural layer of retina; ; optic nerve; ; ciliary body; ; right kidney; ; morula;
	More reference expression data
	n/a
Gene ontology
Molecular function	neurotransmitter:sodium symporter activity; protein binding; symporter activity; amino acid transmembrane transporter activity; transporter activity; gamma-aminobutyric acid:sodium symporter activity; neurotransmitter binding;
Cellular component	integral component of membrane; plasma membrane; integral component of plasma membrane; membrane; neuron projection;
Biological process	amino acid transport; transmembrane transport; amino acid transmembrane transport; neurotransmitter transport; gamma-aminobutyric acid transport;
	Sources:Amigo / QuickGO
Orthologs
	6539
	14411
	ENSG00000111181
	ENSMUSG00000030109
	P48065
	P31651
	NM_001122847; NM_001122848; NM_001206931; NM_003044
NM_133661; NM_001347433; NM_001381903; NM_001381904; NM_001381905;
	NM_001381906
	NP_001116319; NP_001116320; NP_001193860; NP_003035
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Sodium- and chloride-dependent betaine transporter, also known as Na(+)/Cl(-) betaine/GABA transporter (BGT-1), is a protein that in humans is encoded by the SLC6A12 gene. BGT-1 is predominantly expressed in the liver (hepatocytes).^[5] It is also expressed in the kidney^[5] where it is regulated by NFAT5 during a response to osmotic stress.^[6] Further, BGT1 is also present in the leptomeninges surrounding the brain.^[5] Deletion of the BGT1 gene in mice did not appear to have any impact on the tendency to develop epilepsy.^[7] This is to be expected considering that BGT1 is expressed at far lower levels than GAT1 and also has lower affinity for GABA. This implies that it is not likely to contribute significantly to the inactivation of the inhibitory neurotransmitter GABA.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000111181 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030109 – 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 ^c Zhou Y, Holmseth S, Hua R, Lehre AC, Olofsson AM, Poblete-Naredo I, Kempson SA, Danbolt NC (2012). "The betaine-GABA transporter (BGT1, slc6a12) is predominantly expressed in the liver and at lower levels in the kidneys and at the brain surface". Am J Physiol Renal Physiol. 302 (3): F316-28. doi:10.1152/ajprenal.00464.2011. PMID 22071246.
^ Lee SD, Choi SY, Lim SW, Lamitina ST, Ho SN, Go WY, Kwon HM (2011). "TonEBP stimulates multiple cellular pathways for adaptation to hypertonic stress: Organic osmolyte-dependent and -independent pathways". AJP: Renal Physiology. 300 (3): F707–F715. doi:10.1152/ajprenal.00227.2010. PMC 3064130. PMID 21209002.
^ ^a ^b Lehre AC, Rowley NM, Zhou Y, Holmseth S, Guo C, Holen T, Hua R, Laake P, Olofsson AM, Poblete-Naredo I, Rusakov DA, Madsen KK, Clausen RP, Schousboe A, White HS, Danbolt NC (2011). "Deletion of the betaine-GABA transporter (BGT1; slc6a12) gene does not affect seizure thresholds of adult mice". Epilepsy Res. 95 (1–2): 70–81. doi:10.1016/j.eplepsyres.2011.02.014. PMC 3376448. PMID 21459558.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000111181 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030109 – 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.

[Zhou_et_al._2012-5] Zhou Y, Holmseth S, Hua R, Lehre AC, Olofsson AM, Poblete-Naredo I, Kempson SA, Danbolt NC (2012). "The betaine-GABA transporter (BGT1, slc6a12) is predominantly expressed in the liver and at lower levels in the kidneys and at the brain surface". Am J Physiol Renal Physiol. 302 (3): F316-28. doi:10.1152/ajprenal.00464.2011. PMID 22071246.

[6] Lee SD, Choi SY, Lim SW, Lamitina ST, Ho SN, Go WY, Kwon HM (2011). "TonEBP stimulates multiple cellular pathways for adaptation to hypertonic stress: Organic osmolyte-dependent and -independent pathways". AJP: Renal Physiology. 300 (3): F707–F715. doi:10.1152/ajprenal.00227.2010. PMC 3064130. PMID 21209002.

[Lehre_et_al._2011-7] Lehre AC, Rowley NM, Zhou Y, Holmseth S, Guo C, Holen T, Hua R, Laake P, Olofsson AM, Poblete-Naredo I, Rusakov DA, Madsen KK, Clausen RP, Schousboe A, White HS, Danbolt NC (2011). "Deletion of the betaine-GABA transporter (BGT1; slc6a12) gene does not affect seizure thresholds of adult mice". Epilepsy Res. 95 (1–2): 70–81. doi:10.1016/j.eplepsyres.2011.02.014. PMC 3376448. PMID 21459558.

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Sodium- and chloride-dependent betaine transporter

See also

References

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