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Q924N4

- S12A6_MOUSE

UniProt

Q924N4 - S12A6_MOUSE

Protein

Solute carrier family 12 member 6

Gene

Slc12a6

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 2 (28 Jun 2011)
      Previous versions | rss
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    Functioni

    Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells.1 Publication

    Enzyme regulationi

    Inhibited by WNK3.By similarity

    GO - Molecular functioni

    1. potassium:chloride symporter activity Source: UniProtKB
    2. protein binding Source: IntAct

    GO - Biological processi

    1. cellular hypotonic salinity response Source: UniProtKB
    2. chloride transmembrane transport Source: GOC
    3. chloride transport Source: GOC
    4. potassium ion transport Source: UniProtKB-KW

    Keywords - Biological processi

    Ion transport, Potassium transport, Symport, Transport

    Keywords - Ligandi

    Potassium

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 12 member 6
    Alternative name(s):
    Electroneutral potassium-chloride cotransporter 3
    K-Cl cotransporter 3
    Gene namesi
    Name:Slc12a6
    Synonyms:Kcc3
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 2

    Organism-specific databases

    MGIiMGI:2135960. Slc12a6.

    Subcellular locationi

    Basolateral cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. basolateral plasma membrane Source: UniProtKB
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Slc12a6 are a cause of locomotor abnormalities beginning at 2 weeks of age. Slc12a6 deficient mice show hypomyelination, decompaction of myelin, demyelination, axonal swelling and fiber degeneration.1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11501150Solute carrier family 12 member 6PRO_0000178038Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei32 – 321PhosphoserineBy similarity
    Glycosylationi504 – 5041N-linked (GlcNAc...)Sequence Analysis
    Modified residuei1032 – 10321PhosphoserineBy similarity

    Post-translational modificationi

    N-glycosylated.1 Publication

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiQ924N4.
    PRIDEiQ924N4.

    PTM databases

    PhosphoSiteiQ924N4.

    Expressioni

    Tissue specificityi

    Isoform 1 is highly expressed throughout the brain and detected at lower levels in kidney. Highly expressed in highly myelinated white matter of the brain, but not in gray matter. Detected in the corpus callosum, in packed cell layers of the hippocampus and in Purkinje neurons within the cerebellum. Highly expressed in white matter in the spinal cord, but not in dorsal root ganglia or sciatic nerve. Colocalizes with the oligodendrocyte marker CNP. Isoform 2 is highly expressed in kidney, but not detected in brain.1 Publication

    Gene expression databases

    ArrayExpressiQ924N4.
    BgeeiQ924N4.
    CleanExiMM_SLC12A6.
    GenevestigatoriQ924N4.

    Interactioni

    Subunit structurei

    Homomultimer and heteromultimer with other K-Cl cotransporters.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Stk39Q9Z1W94EBI-620992,EBI-444764

    Protein-protein interaction databases

    IntActiQ924N4. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ924N4.
    SMRiQ924N4. Positions 476-660.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 185185CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini229 – 2357CytoplasmicSequence Analysis
    Topological domaini298 – 31922CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini364 – 480117CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini539 – 55820CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini653 – 68937CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini810 – 1150341CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei186 – 20621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei208 – 22821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei236 – 25621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei277 – 29721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei320 – 34021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei343 – 36321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei481 – 50121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei518 – 53821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei559 – 57921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei632 – 65221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei690 – 71021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei789 – 80921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi227 – 2304Poly-Cys

    Sequence similaritiesi

    Belongs to the SLC12A transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0531.
    GeneTreeiENSGT00560000076892.
    HOGENOMiHOG000092644.
    HOVERGENiHBG052852.
    InParanoidiA2AGK1.
    KOiK14427.
    OMAiNNMTVPS.
    TreeFamiTF313657.

    Family and domain databases

    InterProiIPR004841. AA-permease/SLC12A_dom.
    IPR018491. K/Cl_cotranspt_1/3.
    IPR000076. KCL_cotranspt.
    IPR004842. Na/K/Cl_cotransptS.
    [Graphical view]
    PfamiPF00324. AA_permease. 2 hits.
    PF03522. KCl_Cotrans_1. 1 hit.
    [Graphical view]
    PRINTSiPR01081. KCLTRNSPORT.
    TIGRFAMsiTIGR00930. 2a30. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative promoter usage. Align

    Isoform 1 (identifier: Q924N4-1) [UniParc]FASTAAdd to Basket

    Also known as: KCC3a

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MHPPEATTKM SSVRFMVTPT KIDDIPGLSD TSPDLSSRSS SRVRFSSRES     50
    VPETSRSEPM SELSGATTSL ATVALDPSSD RTSNPQDVTE DPSQNSITGE 100
    HSQLLDDGHK KARNAYLNNS NYEEGDEYFD KNLALFEEEM DTRPKVSSLL 150
    NRMANYTNLT QGAKEHEEAE NITEGKKKPT KSPQMGTFMG VYLPCLQNIF 200
    GVILFLRLTW VVGTAGILQA FAIVLICCCC TMLTAISMSA IATNGVVPAG 250
    GSYFMISRAL GPEFGGAVGL CFYLGTTFAA AMYILGAIEI FLVYIVPRAA 300
    IFRSDDALKE SAAMLNNMRV YGTAFLVLMV LVVFIGVRYV NKFASLFLAC 350
    VIVSILAIYA GAIKSSFAPP HFPVCMLGNR TLSSRHLDIC SKTKEVDNMT 400
    VPSKLWGFFC NSSQFFNATC DEYFVHNNVI SIQGIPGLAS GIITENLWSN 450
    YLPKGEIIEK PSAKSSDVLG NLNHEYVLAD ITTSFTLLVG IFFPSVTGIM 500
    AGSNRSGDLK DAQKSIPIGT ILAILTTSFV YLSNVVLFGA CIEGVVLRDK 550
    FGDAVKGNLV VGTLSWPSPW VIVIGSFFST CGAGLQSLTG APRLLQAIAK 600
    DNIIPFLRVF GHSKANGEPT WALLLTAAIA ELGILIASLD LVAPILSMFF 650
    LMCYLFVNLA CALQTLLRTP NWRPRFRYYH WALSFMGMSI CLALMFISSW 700
    YYAIVAMVIA GMIYKYIEYQ GAEKEWGDGI RGLSLSAARF ALLRLEEGPP 750
    HTKNWRPQLL VLLKLDEDLH VKHPRLLTFA SQLKAGKGLT IVGSVIVGNF 800
    LENYGDALAA EQTIKHLMEA EKVKGFCQLV VAAKLKEGIS HLIQSCGLGG 850
    MKHNTVVMGW PNGWRQSEDA RAWKTFIGTV RVTTAAHLAL LVAKNVSFFP 900
    SNVEQFSEGN IDVWWIVHDG GMLMLLPFLL KQHKVWRKCS IRIFTVAQLE 950
    DNSIQMKKDL ATFLYHLRIE AEVEVVEMHD SDISAYTYER TLMMEQRSQM 1000
    LRHMRLSKTE RDREAQLVKD RNSMLRLTSI GSDEDEETET YQEKVHMTWT 1050
    KDKYMASRGQ KVKSMEGFQD LLNMRPDQSN VRRMHTAVKL NEVIVNKSHE 1100
    AKLVLLNMPG PPRNPEGDEN YMEFLEVLTE GLERVLLVRG GGSEVITIYS 1150
    Length:1,150
    Mass (Da):127,527
    Last modified:June 28, 2011 - v2
    Checksum:i74287FECDBC473BC
    GO
    Isoform 2 (identifier: Q924N4-2) [UniParc]FASTAAdd to Basket

    Also known as: KCC3b

    The sequence of this isoform differs from the canonical sequence as follows:
         1-51: Missing.
         52-90: PETSRSEPMS...RTSNPQDVTE → MPHFTVTKVE...KARIQDPQEP

    Note: Produced by alternative promoter usage.

    Show »
    Length:1,099
    Mass (Da):122,040
    Checksum:i8CEA6F2DC4103DB2
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti914 – 9141W → R in AAK81895. (PubMed:11246162)Curated
    Sequence conflicti914 – 9141W → R in AAK81896. (PubMed:11246162)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5151Missing in isoform 2. 1 PublicationVSP_006117Add
    BLAST
    Alternative sequencei52 – 9039PETSR…QDVTE → MPHFTVTKVEDPEEGAAGPL SPEPSSAEVKARIQDPQEP in isoform 2. 1 PublicationVSP_006118Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF211854 mRNA. Translation: AAK81895.1.
    AF211855 mRNA. Translation: AAK81896.1.
    AL683897, AL713853 Genomic DNA. Translation: CAM17489.1.
    CH466519 Genomic DNA. Translation: EDL27838.1.
    CCDSiCCDS16551.1. [Q924N4-1]
    CCDS16552.1. [Q924N4-2]
    RefSeqiNP_598410.2. NM_133649.2. [Q924N4-1]
    UniGeneiMm.491155.

    Genome annotation databases

    EnsembliENSMUST00000028549; ENSMUSP00000028549; ENSMUSG00000027130. [Q924N4-1]
    ENSMUST00000053666; ENSMUSP00000051490; ENSMUSG00000027130. [Q924N4-2]
    GeneIDi107723.
    KEGGimmu:107723.
    UCSCiuc008lou.2. mouse. [Q924N4-1]

    Keywords - Coding sequence diversityi

    Alternative promoter usage

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF211854 mRNA. Translation: AAK81895.1 .
    AF211855 mRNA. Translation: AAK81896.1 .
    AL683897 , AL713853 Genomic DNA. Translation: CAM17489.1 .
    CH466519 Genomic DNA. Translation: EDL27838.1 .
    CCDSi CCDS16551.1. [Q924N4-1 ]
    CCDS16552.1. [Q924N4-2 ]
    RefSeqi NP_598410.2. NM_133649.2. [Q924N4-1 ]
    UniGenei Mm.491155.

    3D structure databases

    ProteinModelPortali Q924N4.
    SMRi Q924N4. Positions 476-660.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q924N4. 2 interactions.

    PTM databases

    PhosphoSitei Q924N4.

    Proteomic databases

    PaxDbi Q924N4.
    PRIDEi Q924N4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000028549 ; ENSMUSP00000028549 ; ENSMUSG00000027130 . [Q924N4-1 ]
    ENSMUST00000053666 ; ENSMUSP00000051490 ; ENSMUSG00000027130 . [Q924N4-2 ]
    GeneIDi 107723.
    KEGGi mmu:107723.
    UCSCi uc008lou.2. mouse. [Q924N4-1 ]

    Organism-specific databases

    CTDi 9990.
    MGIi MGI:2135960. Slc12a6.

    Phylogenomic databases

    eggNOGi COG0531.
    GeneTreei ENSGT00560000076892.
    HOGENOMi HOG000092644.
    HOVERGENi HBG052852.
    InParanoidi A2AGK1.
    KOi K14427.
    OMAi NNMTVPS.
    TreeFami TF313657.

    Miscellaneous databases

    NextBioi 359318.
    PROi Q924N4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q924N4.
    Bgeei Q924N4.
    CleanExi MM_SLC12A6.
    Genevestigatori Q924N4.

    Family and domain databases

    InterProi IPR004841. AA-permease/SLC12A_dom.
    IPR018491. K/Cl_cotranspt_1/3.
    IPR000076. KCL_cotranspt.
    IPR004842. Na/K/Cl_cotransptS.
    [Graphical view ]
    Pfami PF00324. AA_permease. 2 hits.
    PF03522. KCl_Cotrans_1. 1 hit.
    [Graphical view ]
    PRINTSi PR01081. KCLTRNSPORT.
    TIGRFAMsi TIGR00930. 2a30. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Localization of the K(+)-Cl(-) cotransporter, KCC3, in the central and peripheral nervous systems: expression in the choroid plexus, large neurons and white matter tracts."
      Pearson M.M., Lu J., Mount D.B., Delpire E.
      Neuroscience 103:481-491(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), GLYCOSYLATION.
      Strain: C57BL/6J.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    3. Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.
      Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Lubec G., Kang S.U.
      Submitted (APR-2007) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 601-608; 1054-1061 AND 1103-1113, IDENTIFICATION BY MASS SPECTROMETRY.
      Strain: C57BL/6.
      Tissue: Brain.
    5. "Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family."
      Mount D.B., Mercado A., Song L., Xu J., George A.L. Jr., Delpire E., Gamba G.
      J. Biol. Chem. 274:16355-16362(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    6. Cited for: DISEASE.
    7. Cited for: ALTERNATIVE PROMOTER USAGE, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    8. "The phagosomal proteome in interferon-gamma-activated macrophages."
      Trost M., English L., Lemieux S., Courcelles M., Desjardins M., Thibault P.
      Immunity 30:143-154(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiS12A6_MOUSE
    AccessioniPrimary (citable) accession number: Q924N4
    Secondary accession number(s): A2AGK1, Q924N3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 13, 2002
    Last sequence update: June 28, 2011
    Last modified: October 1, 2014
    This is version 114 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3