Sodium- and chloride-dependent betaine transporter

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SLC6A12
Identifiers
AliasesSLC6A12, BGT-1, BGT1, GAT2, solute carrier family 6 member 12
External IDsMGI: 95628 HomoloGene: 128225 GeneCards: SLC6A12
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for SLC6A12
Genomic location for SLC6A12
Band12p13.33Start190,077 bp[1]
End214,570 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001122847
NM_001122848
NM_001206931
NM_003044

NM_133661
NM_001347433

RefSeq (protein)

NP_001116319
NP_001116320
NP_001193860
NP_003035

n/a

Location (UCSC)Chr 12: 0.19 – 0.21 MbChr 6: 121.34 – 121.37 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000111181 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030109 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  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.
  7. ^ 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.