Sodium- and chloride-dependent betaine transporter

Last updated
SLC6A12
Identifiers
Aliases SLC6A12 , BGT-1, BGT1, GAT2, solute carrier family 6 member 12
External IDs MGI: 95628 HomoloGene: 128225 GeneCards: SLC6A12
Gene location (Human)
Ideogram human chromosome 12.svg
Chr. Chromosome 12 (human) [1]
Human chromosome 12 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 12p13.33Start190,077 bp [1]
End214,570 bp [1]
Orthologs
SpeciesHumanMouse
Entrez

6539

14411

Ensembl

ENSG00000111181

ENSMUSG00000030109

UniProt

P48065

P31651

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 Mb Chr 6: 121.34 – 121.37 Mb
PubMed search [3] [4]
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]

Protein biological molecule consisting of chains of amino acid residues

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific three-dimensional structure that determines its activity.

Gene Basic physical and functional unit of heredity

In biology, a gene is a sequence of nucleotides in DNA or RNA that codes for a molecule that has a function. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic trait. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes as well as gene–environment interactions. Some genetic traits are instantly visible, such as eye color or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that constitute life.

Liver vital organ in vertebrates and some other animals

The liver, an organ only found in vertebrates, detoxifies various metabolites, synthesizes proteins, and produces biochemicals necessary for digestion. In humans, it is located in the right upper quadrant of the abdomen, below the diaphragm. Its other roles in metabolism include the regulation of glycogen storage, decomposition of red blood cells and the production of hormones.

See also

Related Research Articles

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Solute carrier family 2, facilitated glucose transporter member 12 is a protein that in humans is encoded by the SLC2A12 gene.

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Solute carrier family 13 member 3 also called sodium-dependent dicarboxylate transporter (NaDC3) is a protein that in humans is encoded by the SLC13A3 gene.

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GABA transporters (Gamma-Aminobutyric acid transporters) belong to the family of neurotransmitters known as sodium symporters, also known as solute carrier 6 (SLC6). These are large family of neurotransmitter which are Na+ concentration dependent. They are found in various regions of the brain in different cell types, such as neurons and astrocytes. These transporters are primarily responsible for the regulation of extracellular GABA concentration during basal and synaptic activity. They are responsible to create a GABA gradient which is determined by the membrane potential, and the concentration of Na+ and Cl-. They are also present on the plasma membrane of neurons and glia which help define their function of regulation of GABA concentration as they act as the receptors that facilitate recycling of GABA in the extracellular space. GABA transporters often are the main sites that are aimed by lot of anticonvulsant drugs in order to avoid seizure disorders such as epilepsy.

Plasma membrane monoamine transporter protein-coding gene in the species Homo sapiens

The plasma membrane monoamine transporter (PMAT) is a low-affinity monoamine transporter protein which in humans is encoded by the SLC29A4 gene. It is known alternatively as the human equilibrative nucleoside transporter-4 (hENT4). Unlike other members of the ENT family, it is impermeable to most nucleosides, with the exception of the inhibitory neurotransmitter and ribonucleoside adenosine, which it is permeable to in a highly pH-dependent manner.

Organic anion transporter 1 protein-coding gene in the species Homo sapiens

The organic anion transporter 1 (OAT1) also known as solute carrier family 22 member 6 (SLC22A6) is a protein that in humans is encoded by the SLC22A6 gene. It is a member of the organic anion transporter (OAT) family of proteins. OAT1 is a transmembrane protein that is expressed in the brain, the placenta, the eyes, smooth muscles, and the basolateral membrane of proximal tubular cells of the kidneys. It plays a central role in renal organic anion transport. Along with OAT3, OAT1 mediates the uptake of a wide range of relatively small and hydrophilic organic anions from plasma into the cytoplasm of the proximal tubular cells of the kidneys. From there, these substrates are transported into the lumen of the nephrons of the kidneys for excretion. OAT1 homologs have been identified in rats, mice, rabbits, pigs, flounders, and nematodes.

GABA transporter 2 also known as sodium- and chloride-dependent GABA transporter 2 is one of four GABA transporters, GAT1 (SLC6A1), GAT2 (SLC6A13), GAT3 (SLC6A11) and BGT1 (SLC6A12). Note that GAT2 is different from BGT1 despite the fact that the latter transporter is sometimes refereed at as (mouse) GAT-2.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000111181 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030109 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 3 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. 1 2 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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