SLC12A6

Last updated
SLC12A6
Identifiers
Aliases SLC12A6 , ACCPN, KCC3, KCC3A, KCC3B, solute carrier family 12 member 6
External IDs OMIM: 604878 MGI: 2135960 HomoloGene: 21069 GeneCards: SLC12A6
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_133648
NM_133649
NM_001362700

RefSeq (protein)

NP_598409
NP_598410
NP_001349629

Location (UCSC) Chr 15: 34.23 – 34.34 Mb Chr 2: 112.1 – 112.19 Mb
PubMed search [3] [4]
Wikidata
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Solute carrier family 12 member 6 is a protein that in humans is encoded by the SLC12A6 gene. [5] [6] [7]

Contents

This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms, the most important ones being KCC3a and KCC3b. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [7]

See also

Related Research Articles

The Na–K–Cl cotransporter (NKCC) is a transport protein that aids in the secondary active transport of sodium, potassium, and chloride into cells. In humans there are two isoforms of this membrane transport protein, NKCC1 and NKCC2, encoded by two different genes. Two isoforms of the NKCC1/Slc12a2 gene result from keeping or skipping exon 21 in the final gene product.

In molecular biology, the electroneutral cation-Cl family of proteins are a family of solute carrier proteins. This family includes the products of the Human genes: SLC12A1, SLC12A1, SLC12A2, SLC12A3, SLC12A4, SLC12A5, SLC12A6, SLC12A7, SLC12A8 and SLC12A9.

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<span class="mw-page-title-main">Sodium-hydrogen antiporter 3 regulator 1</span> Protein-coding gene in the species Homo sapiens

Sodium-hydrogen antiporter 3 regulator 1 is a regulator of Sodium-hydrogen antiporter 3. It is encoded by the gene SLC9A3R1. It is also known as ERM Binding Protein 50 (EBP50) or Na+/H+ Exchanger Regulatory Factor (NHERF1). It is believed to interact via long-range allostery, involving significant protein dynamics.

<span class="mw-page-title-main">Peptide transporter 1</span> Mammalian protein found in Homo sapiens

Peptide transporter 1 also known as solute carrier family 15 member 1 (SLC15A1) is a protein that in humans is encoded by SLC15A1 gene. PepT 1 is a solute carrier for oligopeptides. It functions in renal oligopeptide reabsorption and in the intestines in a proton dependent way, hence acting like a cotransporter.

<span class="mw-page-title-main">Sodium bicarbonate cotransporter 3</span> Protein-coding gene in the species Homo sapiens

Sodium bicarbonate cotransporter 3 is a protein which in humans is encoded by the SLC4A7 gene.

<span class="mw-page-title-main">Electrogenic sodium bicarbonate cotransporter 1</span> Protein-coding gene in the species Homo sapiens

Electrogenic sodium bicarbonate cotransporter 1, sodium bicarbonate cotransporter is a membrane transport protein that in humans is encoded by the SLC4A4 gene.

<span class="mw-page-title-main">Concentrative nucleoside transporter 2</span> Protein found in humans

Concentrative nucleoside transporter 2 (CNT2) is a protein that in humans is encoded by the SLC28A2 gene.

<span class="mw-page-title-main">Urea transporter 1</span> Protein-coding gene in the species Homo sapiens

Urea transporter 1 is a protein that in humans is encoded by the SLC14A1 gene.

<span class="mw-page-title-main">Concentrative nucleoside transporter 1</span> Protein found in humans

Concentrative nucleoside transporter 1 (CNT1) is a protein that in humans is encoded by the SLC28A1 gene.

<span class="mw-page-title-main">Anion exchange protein 3</span> Protein-coding gene in the species Homo sapiens

Anion exchange protein 3 is a membrane transport protein that in humans is encoded by the SLC4A3 gene. AE3 is functionally similar to the Band 3 Cl/HCO3 exchange protein but it is expressed primarily in brain neurons and in the heart. Like AE2 its activity is sensitive to pH. AE3 mutations have been linked to seizures.

<span class="mw-page-title-main">Chloride potassium symporter 5</span> Protein-coding gene in the species Homo sapiens

Potassium-chloride transporter member 5 is a neuron-specific chloride potassium symporter responsible for establishing the chloride ion gradient in neurons through the maintenance of low intracellular chloride concentrations. It is a critical mediator of synaptic inhibition, cellular protection against excitotoxicity and may also act as a modulator of neuroplasticity. Potassium-chloride transporter member 5 is also known by the names: KCC2 for its ionic substrates, and SLC12A5 for its genetic origin from the SLC12A5 gene in humans.

<span class="mw-page-title-main">Chloride potassium symporter 4</span> Protein-coding gene in the species Homo sapiens

Potassium-chloride transporter, member 4 is a chloride potassium symporter protein. It is encoded by the gene SLC12A4.

<span class="mw-page-title-main">SLC26A6</span> Protein-coding gene in the species Homo sapiens

Solute carrier family 26 member 6 is a protein that in humans is encoded by the SLC26A6 gene. It is an anion-exchanger expressed in the apical membrane of the kidney proximal tubule, the apical membranes of the duct cells in the pancreas, and the villi of the duodenum.

<span class="mw-page-title-main">Electroneutral sodium bicarbonate exchanger 1</span> Protein-coding gene in the species Homo sapiens

Electroneutral sodium bicarbonate exchanger 1 is a protein that in humans is encoded by the SLC4A8 gene.

<span class="mw-page-title-main">SLC12A7</span> Protein-coding gene in the species Homo sapiens

Solute carrier family 12 member 7 is a protein that in humans is encoded by the SLC12A7 gene.

<span class="mw-page-title-main">Sodium/myo-inositol cotransporter</span> Protein-coding gene in the species Homo sapiens

Sodium/myo-inositol cotransporter is a protein that in humans is encoded by the SLC5A3 gene.

<span class="mw-page-title-main">OSTalpha</span> Protein-coding gene in the species Homo sapiens

Organic solute transporter alpha, also known as OST-alpha, is a protein which in humans is encoded by the SLC51A gene.

<span class="mw-page-title-main">SLC13A2</span> Protein-coding gene in the species Homo sapiens

Solute carrier family 13 member 2 is a protein that is encoded in humans by the SLC13A2 gene.

<span class="mw-page-title-main">OSTbeta</span> Protein-coding gene in the species Homo sapiens

Organic solute transporter beta, also known as OST-beta, is a protein which in humans is encoded by the OSTB gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000140199 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027130 - 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.
  5. Hiki K, D'Andrea RJ, Furze J, Crawford J, Woollatt E, Sutherland GR, Vadas MA, Gamble JR (May 1999). "Cloning, characterization, and chromosomal location of a novel human K+-Cl cotransporter". J Biol Chem. 274 (15): 10661–7. doi: 10.1074/jbc.274.15.10661 . PMID   10187864.
  6. Mount DB, Mercado A, Song L, Xu J, George AL Jr, Delpire E, Gamba G (Jul 1999). "Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family". J Biol Chem. 274 (23): 16355–62. doi: 10.1074/jbc.274.23.16355 . PMID   10347194.
  7. 1 2 "Entrez Gene: SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.