Details for: SLC12A6
Associated with
Other Information
Genular Protein ID: 3619649646
Symbol: S12A6_HUMAN
Name: Solute carrier family 12 member 6
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10600773
Title: Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter.
PubMed ID: 10600773
PubMed ID: 10187864
Title: Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter.
PubMed ID: 10187864
PubMed ID: 10347194
Title: Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family.
PubMed ID: 10347194
PubMed ID: 12368912
Title: The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
PubMed ID: 12368912
DOI: 10.1038/ng1002
PubMed ID: 16048901
Title: NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter.
PubMed ID: 16048901
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16572171
Title: Analysis of the DNA sequence and duplication history of human chromosome 15.
PubMed ID: 16572171
DOI: 10.1038/nature04601
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 11551954
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.
PubMed ID: 11551954
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 19665974
Title: Sites of regulated phosphorylation that control K-Cl cotransporter activity.
PubMed ID: 19665974
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 21613606
Title: Similar Effects of all WNK3 Variants upon SLC12 Cotransporters.
PubMed ID: 21613606
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 33199848
Title: Cryo-EM structures of the full-length human KCC2 and KCC3 cation-chloride cotransporters.
PubMed ID: 33199848
PubMed ID: 34267353
Title: Author Correction: Cryo-EM structures of the full-length human KCC2 and KCC3 cation-chloride cotransporters.
PubMed ID: 34267353
PubMed ID: 34031912
Title: Phospho-regulation, nucleotide binding and ion access control in potassium-chloride cotransporters.
PubMed ID: 34031912
PubMed ID: 16606917
Title: Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.
PubMed ID: 16606917
PubMed ID: 17893295
Title: Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.
PubMed ID: 17893295
PubMed ID: 18566107
Title: HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.
PubMed ID: 18566107
DOI: 10.1093/hmg/ddn172
PubMed ID: 21628467
Title: Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
PubMed ID: 21628467
PubMed ID: 27485015
Title: Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.
PubMed ID: 27485015
PubMed ID: 31439721
Title: De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.
PubMed ID: 31439721
PubMed ID: 35733399
Title: Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.
PubMed ID: 35733399
DOI: 10.1002/acn3.51603
Sequence Information:
- Length: 1150
- Mass: 127617
- Checksum: F8BDD39181294EDD
- Sequence:
MHPPETTTKM ASVRFMVTPT KIDDIPGLSD TSPDLSSRSS SRVRFSSRES VPETSRSEPM SEMSGATTSL ATVALDPPSD RTSHPQDVIE DLSQNSITGE HSQLLDDGHK KARNAYLNNS NYEEGDEYFD KNLALFEEEM DTRPKVSSLL NRMANYTNLT QGAKEHEEAE NITEGKKKPT KTPQMGTFMG VYLPCLQNIF GVILFLRLTW VVGTAGVLQA FAIVLICCCC TMLTAISMSA IATNGVVPAG GSYFMISRAL GPEFGGAVGL CFYLGTTFAA AMYILGAIEI FLVYIVPRAA IFHSDDALKE SAAMLNNMRV YGTAFLVLMV LVVFIGVRYV NKFASLFLAC VIVSILAIYA GAIKSSFAPP HFPVCMLGNR TLSSRHIDVC SKTKEINNMT VPSKLWGFFC NSSQFFNATC DEYFVHNNVT SIQGIPGLAS GIITENLWSN YLPKGEIIEK PSAKSSDVLG SLNHEYVLVD ITTSFTLLVG IFFPSVTGIM AGSNRSGDLK DAQKSIPIGT ILAILTTSFV YLSNVVLFGA CIEGVVLRDK FGDAVKGNLV VGTLSWPSPW VIVIGSFFST CGAGLQSLTG APRLLQAIAK DNIIPFLRVF GHSKANGEPT WALLLTAAIA ELGILIASLD LVAPILSMFF LMCYLFVNLA CALQTLLRTP NWRPRFRYYH WALSFMGMSI CLALMFISSW YYAIVAMVIA GMIYKYIEYQ GAEKEWGDGI RGLSLSAARF ALLRLEEGPP HTKNWRPQLL VLLKLDEDLH VKHPRLLTFA SQLKAGKGLT IVGSVIVGNF LENYGEALAA EQTIKHLMEA EKVKGFCQLV VAAKLREGIS HLIQSCGLGG MKHNTVVMGW PNGWRQSEDA RAWKTFIGTV RVTTAAHLAL LVAKNISFFP SNVEQFSEGN IDVWWIVHDG GMLMLLPFLL KQHKVWRKCS IRIFTVAQLE DNSIQMKKDL ATFLYHLRIE AEVEVVEMHD SDISAYTYER TLMMEQRSQM LRHMRLSKTE RDREAQLVKD RNSMLRLTSI GSDEDEETET YQEKVHMTWT KDKYMASRGQ KAKSMEGFQD LLNMRPDQSN VRRMHTAVKL NEVIVNKSHE AKLVLLNMPG PPRNPEGDEN YMEFLEVLTE GLERVLLVRG GGSEVITIYS
Genular Protein ID: 2895845379
Symbol: Q6NSI7_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
Sequence Information:
- Length: 1091
- Mass: 121109
- Checksum: EC5F6EE6E9E6957B
- Sequence:
MSEMSGATTS LATVALDPPS DRTSHPQDVI EDLSQNSITG EHSQLLDDGH KKARNAYLNN SNYEEGDEYF DKNLALFEEE MDTRPKVSSL LNRMANYTNL TQGAKEHEEA ENITEGKKKP TKTPQMGTFM GVYPPCLQNI FGVILFLRLT WVVGTAGVLQ AFAIVLICCC CTMLTAISMS AIATNGVVPA GGSYFMISRA LGPEFGGAVG LCFYLGTTFA AAMYILGAIE IFLVYIVPRA AIFHSDDALK ESAAMLNNMR VYGTAFLVLM VLVVFIGVRY VNKFASLFLA CVIVSILAIY AGAIKSSFAP PHFPVCMLGN RTLSSRHIDV CSKTKEINNM TVPSKLWGFF CNSSQFFNAT CDEYFVHNNV TSIQGIPGLA SGIITENLWS NYLPKGEIIE KPSAKSSDVL GSLNHEYVLV DITTSFTLLV GIFFPSVTGI MAGSNRSGDL KDAQKSIPIG TILAILTTSF VYLSNVVLFG ACIEGVVLRD KFGDAVKGNL VVGTLSWPSP WVIVIGSFFS TCGAGLQSLT GAPRLLQAIA KDNIIPFLRV FGHSKANGEP TWALLLTAAI AELGILIASL DLVAPILSMF FLMCYLFVNL ACALQTLLRT PNWRPRFRYY HWALSFMGMS ICLALMFISS WYYAIVAMVI AGMIYKYIEY QGAEKEWGDG IRGLSLSAAR FALLRLEEGP PHTKNWRPQL LVLLKLDEDL HVKHPRLLTF ASQLKAGKGL TIVGSVIVGN FLENYGEALA AEQTIKHLME AEKVKGFCQL VVAAKLREGI SHLIQSCGLG GMKHNTVVMG WPNGWRQSED ARAWKTFIGT VRVTTAAHLA LLVAKNISFF PSNVEQFSEG NIDVWWIVHD GGMLMLLPFL LKQHKVWRKC SIRIFTVAQL EDNSIQMKKD LATFLYHLRI EAEVEVVEMH DSDISAYTYE RTLMMEQRSQ MLRHMRLSKT ERDREAQLVK DRNSMLRLTS IGSDEDEETE TYQEKVHMTW TKDKYMASRG QKAKSMEGFQ DLLNMRPDQS NVRRMHTAVK LNEVIVNKSH EAKLVLLNMP GPPRNPEGDE NYMEFLEVLT EGLERVLLVR GGGSEVITIY S
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.