SLC12A6: Difference between revisions

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{{Short description|Protein-coding gene in the species Homo sapiens}}
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'''Solute carrier family 12 member 6''' is a [[protein]] that in humans is encoded by the ''SLC12A6'' [[gene]].<ref name="pmid10187864">{{cite journal | author = Hiki K, D'Andrea RJ, Furze J, Crawford J, Woollatt E, Sutherland GR, Vadas MA, Gamble JR | title = Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter | journal = J Biol Chem | volume = 274 | issue = 15 | pages = 10661-7 | year = 1999 | month = May | pmid = 10187864 | pmc = | doi = }}</ref><ref name="pmid10347194">{{cite journal | author = Mount DB, Mercado A, Song L, Xu J, George AL Jr, Delpire E, Gamba G | title = Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family | journal = J Biol Chem | volume = 274 | issue = 23 | pages = 16355-62 | year = 1999 | month = Jul | pmid = 10347194 | pmc = | doi = }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9990| accessdate = }}</ref>
'''Solute carrier family 12 member 6''' is a [[protein]] that in humans is encoded by the ''SLC12A6'' [[gene]].<ref name="pmid10187864">{{cite journal | vauthors = Hiki K, D'Andrea RJ, Furze J, Crawford J, Woollatt E, Sutherland GR, Vadas MA, Gamble JR |authorlink6=Grant Robert Sutherland | title = Cloning, characterization, and chromosomal location of a novel human K<sup>+</sup>-Cl<sup>−</sup> cotransporter | journal = J Biol Chem | volume = 274 | issue = 15 | pages = 10661–7 |date=May 1999 | pmid = 10187864 | doi =10.1074/jbc.274.15.10661 | doi-access = free }}</ref><ref name="pmid10347194">{{cite journal | vauthors = Mount DB, Mercado A, Song L, Xu J, ((George AL Jr)), Delpire E, Gamba G | title = Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family | journal = J Biol Chem | volume = 274 | issue = 23 | pages = 16355–62 |date=Jul 1999 | pmid = 10347194 | doi =10.1074/jbc.274.23.16355 | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9990}}</ref>


This gene is a member of the K-Cl [[cotransporter]] (KCC) family. K-Cl [[cotransporter]]s 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.<ref name="entrez"/>
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{{PBB_Summary
| section_title =
| summary_text = This gene is a member of the K-Cl [[cotransporter]] (KCC) family. K-Cl [[cotransporter]]s 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. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy.<ref name="entrez">{{cite web | title = Entrez Gene: SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9990| accessdate = }}</ref>
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==See also==
==See also==
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==References==
==References==
{{reflist}}
{{reflist}}

==External links==
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=accpn GeneReview/NIH/UW entry on Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum]


==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
*{{cite journal |vauthors=Race JE, Makhlouf FN, Logue PJ, etal |title=Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter. |journal=Am. J. Physiol. |volume=277 |issue= 6 Pt 1 |pages= C1210–9 |year= 2000 |pmid= 10600773 |doi= 10.1152/ajpcell.1999.277.6.C1210}}
{{PBB_Further_reading
*{{cite journal |vauthors=Casula S, Shmukler BE, Wilhelm S, etal |title=A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity. |journal=J. Biol. Chem. |volume=276 |issue= 45 |pages= 41870–8 |year= 2001 |pmid= 11551954 |doi= 10.1074/jbc.M107155200 |doi-access= free }}
| citations =
*{{cite journal | author=Race JE, Makhlouf FN, Logue PJ, ''et al.'' |title=Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter. |journal=Am. J. Physiol. |volume=277 |issue= 6 Pt 1 |pages= C1210–9 |year= 2000 |pmid= 10600773 |doi= }}
*{{cite journal |vauthors=Howard HC, Mount DB, Rochefort D, etal |title=The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. |journal=Nat. Genet. |volume=32 |issue= 3 |pages= 384–92 |year= 2002 |pmid= 12368912 |doi= 10.1038/ng1002 |s2cid=23820724 }}
*{{cite journal | author=Casula S, Shmukler BE, Wilhelm S, ''et al.'' |title=A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity. |journal=J. Biol. Chem. |volume=276 |issue= 45 |pages= 41870–8 |year= 2001 |pmid= 11551954 |doi= 10.1074/jbc.M107155200 }}
*{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal | author=Howard HC, Mount DB, Rochefort D, ''et al.'' |title=The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. |journal=Nat. Genet. |volume=32 |issue= 3 |pages= 384–92 |year= 2002 |pmid= 12368912 |doi= 10.1038/ng1002 }}
*{{cite journal |vauthors=Bräuer M, Frei E, Claes L, etal |title=Influence of K-Cl cotransporter activity on activation of volume-sensitive Cl<sup>−</sup> channels in human osteoblasts. |journal=Am. J. Physiol., Cell Physiol. |volume=285 |issue= 1 |pages= C22–30 |year= 2003 |pmid= 12637262 |doi= 10.1152/ajpcell.00289.2002 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal |vauthors=Bergeron MJ, Gagnon E, Wallendorff B, etal |title=Ammonium transport and pH regulation by K<sup>+</sup>-Cl<sup>−</sup> cotransporters. |journal=Am. J. Physiol. Renal Physiol. |volume=285 |issue= 1 |pages= F68–78 |year= 2003 |pmid= 12657561 |doi= 10.1152/ajprenal.00032.2003 |s2cid=7129055 }}
*{{cite journal | author=Bräuer M, Frei E, Claes L, ''et al.'' |title=Influence of K-Cl cotransporter activity on activation of volume-sensitive Cl- channels in human osteoblasts. |journal=Am. J. Physiol., Cell Physiol. |volume=285 |issue= 1 |pages= C22–30 |year= 2003 |pmid= 12637262 |doi= 10.1152/ajpcell.00289.2002 }}
*{{cite journal |vauthors=Shen MR, Lin AC, Hsu YM, etal |title=Insulin-like growth factor 1 stimulates KCl cotransport, which is necessary for invasion and proliferation of cervical cancer and ovarian cancer cells. |journal=J. Biol. Chem. |volume=279 |issue= 38 |pages= 40017–25 |year= 2004 |pmid= 15262997 |doi= 10.1074/jbc.M406706200 |doi-access= free }}
*{{cite journal | author=Bergeron MJ, Gagnon E, Wallendorff B, ''et al.'' |title=Ammonium transport and pH regulation by K(+)-Cl(-) cotransporters. |journal=Am. J. Physiol. Renal Physiol. |volume=285 |issue= 1 |pages= F68–78 |year= 2003 |pmid= 12657561 |doi= 10.1152/ajprenal.00032.2003 }}
*{{cite journal |vauthors=Mercado A, Vázquez N, Song L, etal |title=NH<sub>2</sub>-terminal heterogeneity in the KCC3 K<sup>+</sup>-Cl<sup>−</sup> cotransporter. |journal=Am. J. Physiol. Renal Physiol. |volume=289 |issue= 6 |pages= F1246–61 |year= 2005 |pmid= 16048901 |doi= 10.1152/ajprenal.00464.2004 |s2cid=43713884 }}
*{{cite journal | author=Shen MR, Lin AC, Hsu YM, ''et al.'' |title=Insulin-like growth factor 1 stimulates KCl cotransport, which is necessary for invasion and proliferation of cervical cancer and ovarian cancer cells. |journal=J. Biol. Chem. |volume=279 |issue= 38 |pages= 40017–25 |year= 2004 |pmid= 15262997 |doi= 10.1074/jbc.M406706200 }}
*{{cite journal |vauthors=Uyanik G, Elcioglu N, Penzien J, etal |title=Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. |journal=Neurology |volume=66 |issue= 7 |pages= 1044–8 |year= 2006 |pmid= 16606917 |doi= 10.1212/01.wnl.0000204181.31175.8b |s2cid=280621 }}
*{{cite journal | author=Mercado A, Vázquez N, Song L, ''et al.'' |title=NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter. |journal=Am. J. Physiol. Renal Physiol. |volume=289 |issue= 6 |pages= F1246–61 |year= 2005 |pmid= 16048901 |doi= 10.1152/ajprenal.00464.2004 }}
*{{cite journal |vauthors=Hsu YM, Chou CY, Chen HH, etal |title=IGF-1 upregulates electroneutral K-Cl cotransporter KCC3 and KCC4 which are differentially required for breast cancer cell proliferation and invasiveness. |journal=J. Cell. Physiol. |volume=210 |issue= 3 |pages= 626–36 |year= 2007 |pmid= 17133354 |doi= 10.1002/jcp.20859 |s2cid=21615465 |doi-access=free }}
*{{cite journal | author=Uyanik G, Elcioglu N, Penzien J, ''et al.'' |title=Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. |journal=Neurology |volume=66 |issue= 7 |pages= 1044–8 |year= 2006 |pmid= 16606917 |doi= 10.1212/01.wnl.0000204181.31175.8b }}
*{{cite journal |vauthors=Salin-Cantegrel A, Rivière JB, Dupré N, etal |title=Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. |journal=Neurology |volume=69 |issue= 13 |pages= 1350–5 |year= 2007 |pmid= 17893295 |doi= 10.1212/01.wnl.0000291779.35643.15 |s2cid=22747004 }}
*{{cite journal |vauthors=Hsu YM, Chen YF, Chou CY, etal |title=KCl cotransporter-3 down-regulates E-cadherin/beta-catenin complex to promote epithelial-mesenchymal transition. |journal=Cancer Res. |volume=67 |issue= 22 |pages= 11064–73 |year= 2007 |pmid= 18006853 |doi= 10.1158/0008-5472.CAN-07-2443 |doi-access= free |url= https://aacr.figshare.com/articles/journal_contribution/Supplementary_Figure_1_from_KCl_Cotransporter-3_Down-regulates_E-Cadherin_-Catenin_Complex_to_Promote_Epithelial-Mesenchymal_Transition/22370018/1/files/39815096.pdf }}
*{{cite journal | author=Hsu YM, Chou CY, Chen HH, ''et al.'' |title=IGF-1 upregulates electroneutral K-Cl cotransporter KCC3 and KCC4 which are differentially required for breast cancer cell proliferation and invasiveness. |journal=J. Cell. Physiol. |volume=210 |issue= 3 |pages= 626–36 |year= 2007 |pmid= 17133354 |doi= 10.1002/jcp.20859 }}
*{{cite journal | author=Salin-Cantegrel A, Rivière JB, Dupré N, ''et al.'' |title=Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. |journal=Neurology |volume=69 |issue= 13 |pages= 1350–5 |year= 2007 |pmid= 17893295 |doi= 10.1212/01.wnl.0000291779.35643.15 }}
*{{cite journal | author=Hsu YM, Chen YF, Chou CY, ''et al.'' |title=KCl cotransporter-3 down-regulates E-cadherin/beta-catenin complex to promote epithelial-mesenchymal transition. |journal=Cancer Res. |volume=67 |issue= 22 |pages= 11064–73 |year= 2007 |pmid= 18006853 |doi= 10.1158/0008-5472.CAN-07-2443 }}
}}
{{refend}}
{{refend}}


{{membrane-protein-stub}}
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{{NLM content}}
{{Membrane transport proteins}}
{{Membrane transport proteins}}

{{DEFAULTSORT:Slc12a6}}
[[Category:Solute carrier family]]
[[Category:Solute carrier family]]



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Latest revision as of 12:20, 28 December 2023

SLC12A6
Identifiers
AliasesSLC12A6, ACCPN, KCC3, KCC3A, KCC3B, solute carrier family 12 member 6
External IDsOMIM: 604878; MGI: 2135960; HomoloGene: 21069; GeneCards: SLC12A6; OMA:SLC12A6 - orthologs
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 MbChr 2: 112.1 – 112.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Solute carrier family 12 member 6 is a protein that in humans is encoded by the SLC12A6 gene.[5][6][7]

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[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000140199Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027130Ensembl, 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. ^ a b "Entrez Gene: SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6".

External links[edit]

Further reading[edit]

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