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Q9Y666

- S12A7_HUMAN

UniProt

Q9Y666 - S12A7_HUMAN

Protein

Solute carrier family 12 member 7

Gene

SLC12A7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 3 (04 Dec 2007)
      Previous versions | rss
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    Functioni

    Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May mediate K+ uptake into Deiters' cells in the cochlea and contribute to K+ recycling in the inner ear. Important for the survival of cochlear outer and inner hair cells and the maintenance of the organ of Corti. May be required for basolateral Cl- extrusion in the kidney and contribute to renal acidification By similarity.By similarity

    Enzyme regulationi

    Activated by N-ethylmaleimide (NEM). Inhibited by furosemide, DIDS and bumetanide. The inhibition is much stronger in the presence of 50 mM K+ in the uptake medium. Inhibited by DIOA. Inhibited by WNK3.1 Publication

    GO - Molecular functioni

    1. potassium:chloride symporter activity Source: ProtInc
    2. protein kinase binding Source: BHF-UCL

    GO - Biological processi

    1. cell volume homeostasis Source: Ensembl
    2. chloride transmembrane transport Source: GOC
    3. chloride transport Source: GOC
    4. ion transport Source: Reactome
    5. potassium ion transport Source: UniProtKB-KW
    6. transmembrane transport Source: Reactome
    7. transport Source: ProtInc

    Keywords - Biological processi

    Ion transport, Potassium transport, Symport, Transport

    Keywords - Ligandi

    Potassium

    Enzyme and pathway databases

    ReactomeiREACT_19315. Cation-coupled Chloride cotransporters.

    Protein family/group databases

    TCDBi2.A.30.5.4. the cation-chloride cotransporter (ccc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 12 member 7
    Alternative name(s):
    Electroneutral potassium-chloride cotransporter 4
    K-Cl cotransporter 4
    Gene namesi
    Name:SLC12A7
    Synonyms:KCC4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:10915. SLC12A7.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA35809.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10831083Solute carrier family 12 member 7PRO_0000178039Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei50 – 501Phosphoserine1 Publication
    Modified residuei62 – 621Phosphoserine1 Publication
    Glycosylationi312 – 3121N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi360 – 3601N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9Y666.
    PaxDbiQ9Y666.
    PRIDEiQ9Y666.

    PTM databases

    PhosphoSiteiQ9Y666.

    Expressioni

    Tissue specificityi

    Detected in muscle, brain, lung, heart and kidney.

    Gene expression databases

    BgeeiQ9Y666.
    CleanExiHS_SLC12A7.
    GenevestigatoriQ9Y666.

    Organism-specific databases

    HPAiHPA041652.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi115947. 1 interaction.
    MINTiMINT-4658387.
    STRINGi9606.ENSP00000264930.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y666.
    SMRiQ9Y666. Positions 411-595.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 118118CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini162 – 21453CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini274 – 2752CytoplasmicSequence Analysis
    Topological domaini437 – 45620CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini515 – 55339CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini599 – 62426CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini866 – 1083218CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei119 – 13921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei141 – 16121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei215 – 23521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei253 – 27321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei276 – 29621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei416 – 43621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei457 – 47721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei494 – 51421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei554 – 57421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei578 – 59821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei625 – 64521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei845 – 86521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the SLC12A transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0531.
    HOGENOMiHOG000092644.
    HOVERGENiHBG052852.
    InParanoidiQ9Y666.
    KOiK13627.
    OMAiLIVAMCC.
    OrthoDBiEOG78M01J.
    PhylomeDBiQ9Y666.
    TreeFamiTF313657.

    Family and domain databases

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

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y666-1) [UniParc]FASTAAdd to Basket

    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

    MPTNFTVVPV EAHADGGGDE TAERTEAPGT PEGPEPERPS PGDGNPRENS     50
    PFLNNVEVEQ ESFFEGKNMA LFEEEMDSNP MVSSLLNKLA NYTNLSQGVV 100
    EHEEDEESRR REAKAPRMGT FIGVYLPCLQ NILGVILFLR LTWIVGVAGV 150
    LESFLIVAMC CTCTMLTAIS MSAIATNGVV PAGGSYYMIS RSLGPEFGGA 200
    VGLCFYLGTT FAGAMYILGT IEIFLTYISP GAAIFQAEAA GGEAAAMLHN 250
    MRVYGTCTLV LMALVVFVGV KYVNKLALVF LACVVLSILA IYAGVIKSAF 300
    DPPDIPVCLL GNRTLSRRSF DACVKAYGIH NNSATSALWG LFCNGSQPSA 350
    ACDEYFIQNN VTEIQGIPGA ASGVFLENLW STYAHAGAFV EKKGVPSVPV 400
    AEESRASALP YVLTDIAASF TLLVGIYFPS VTGIMAGSNR SGDLKDAQKS 450
    IPTGTILAIV TTSFIYLSCI VLFGACIEGV VLRDKFGEAL QGNLVIGMLA 500
    WPSPWVIVIG SFFSTCGAGL QSLTGAPRLL QAIARDGIVP FLQVFGHGKA 550
    NGEPTWALLL TVLICETGIL IASLDSVAPI LSMFFLMCYL FVNLACAVQT 600
    LLRTPNWRPR FKFYHWTLSF LGMSLCLALM FICSWYYALS AMLIAGCIYK 650
    YIEYRGAEKE WGDGIRGLSL NAARYALLRV EHGPPHTKNW RPQVLVMLNL 700
    DAEQAVKHPR LLSFTSQLKA GKGLTIVGSV LEGTYLDKHM EAQRAEENIR 750
    SLMSTEKTKG FCQLVVSSSL RDGMSHLIQS AGLGGLKHNT VLMAWPASWK 800
    QEDNPFSWKN FVDTVRDTTA AHQALLVAKN VDSFPQNQER FGGGHIDVWW 850
    IVHDGGMLML LPFLLRQHKV WRKCRMRIFT VAQVDDNSIQ MKKDLQMFLY 900
    HLRISAEVEV VEMVENDISA FTYERTLMME QRSQMLKQMQ LSKNEQEREA 950
    QLIHDRNTAS HTAAAARTQA PPTPDKVQMT WTREKLIAEK YRSRDTSLSG 1000
    FKDLFSMKPD QSNVRRMHTA VKLNGVVLNK SQDAQLVLLN MPGPPKNRQG 1050
    DENYMEFLEV LTEGLNRVLL VRGGGREVIT IYS 1083
    Length:1,083
    Mass (Da):119,106
    Last modified:December 4, 2007 - v3
    Checksum:iBF50134614BF6617
    GO
    Isoform 2 (identifier: Q9Y666-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         227-266: YISPGAAIFQ...CTLVLMALVV → GTEDGVGSLG...AAHGASYGSF
         267-1083: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:266
    Mass (Da):28,258
    Checksum:iB70BD65627E6DB4C
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti522 – 5221S → T in AAD39741. (PubMed:10347194)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti408 – 4081A → T.1 Publication
    Corresponds to variant rs4526148 [ dbSNP | Ensembl ].
    VAR_028748

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei227 – 26640YISPG…MALVV → GTEDGVGSLGLGLAQGNRRQ THLSPSDAAQAAHGASYGSF in isoform 2. 1 PublicationVSP_006119Add
    BLAST
    Alternative sequencei267 – 1083817Missing in isoform 2. 1 PublicationVSP_006120Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF105365 mRNA. Translation: AAD39741.1.
    AC116351 Genomic DNA. No translation available.
    BC007760 mRNA. Translation: AAH07760.1.
    BC098390 mRNA. Translation: AAH98390.1.
    AK024493 mRNA. Translation: BAB15783.1.
    AK024497 mRNA. Translation: BAB15787.1.
    AL117433 mRNA. Translation: CAB55921.1.
    CCDSiCCDS34129.1. [Q9Y666-1]
    PIRiT17231.
    RefSeqiNP_006589.2. NM_006598.2. [Q9Y666-1]
    UniGeneiHs.172613.

    Genome annotation databases

    EnsembliENST00000264930; ENSP00000264930; ENSG00000113504. [Q9Y666-1]
    GeneIDi10723.
    KEGGihsa:10723.
    UCSCiuc003jbu.3. human. [Q9Y666-1]

    Polymorphism databases

    DMDMi166202480.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF105365 mRNA. Translation: AAD39741.1 .
    AC116351 Genomic DNA. No translation available.
    BC007760 mRNA. Translation: AAH07760.1 .
    BC098390 mRNA. Translation: AAH98390.1 .
    AK024493 mRNA. Translation: BAB15783.1 .
    AK024497 mRNA. Translation: BAB15787.1 .
    AL117433 mRNA. Translation: CAB55921.1 .
    CCDSi CCDS34129.1. [Q9Y666-1 ]
    PIRi T17231.
    RefSeqi NP_006589.2. NM_006598.2. [Q9Y666-1 ]
    UniGenei Hs.172613.

    3D structure databases

    ProteinModelPortali Q9Y666.
    SMRi Q9Y666. Positions 411-595.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115947. 1 interaction.
    MINTi MINT-4658387.
    STRINGi 9606.ENSP00000264930.

    Chemistry

    DrugBanki DB00761. Potassium Chloride.
    GuidetoPHARMACOLOGYi 974.

    Protein family/group databases

    TCDBi 2.A.30.5.4. the cation-chloride cotransporter (ccc) family.

    PTM databases

    PhosphoSitei Q9Y666.

    Polymorphism databases

    DMDMi 166202480.

    Proteomic databases

    MaxQBi Q9Y666.
    PaxDbi Q9Y666.
    PRIDEi Q9Y666.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264930 ; ENSP00000264930 ; ENSG00000113504 . [Q9Y666-1 ]
    GeneIDi 10723.
    KEGGi hsa:10723.
    UCSCi uc003jbu.3. human. [Q9Y666-1 ]

    Organism-specific databases

    CTDi 10723.
    GeneCardsi GC05M001050.
    H-InvDB HIX0004714.
    HGNCi HGNC:10915. SLC12A7.
    HPAi HPA041652.
    MIMi 604879. gene.
    neXtProti NX_Q9Y666.
    PharmGKBi PA35809.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0531.
    HOGENOMi HOG000092644.
    HOVERGENi HBG052852.
    InParanoidi Q9Y666.
    KOi K13627.
    OMAi LIVAMCC.
    OrthoDBi EOG78M01J.
    PhylomeDBi Q9Y666.
    TreeFami TF313657.

    Enzyme and pathway databases

    Reactomei REACT_19315. Cation-coupled Chloride cotransporters.

    Miscellaneous databases

    ChiTaRSi SLC12A7. human.
    GeneWikii SLC12A7.
    GenomeRNAii 10723.
    NextBioi 40705.
    PROi Q9Y666.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9Y666.
    CleanExi HS_SLC12A7.
    Genevestigatori Q9Y666.

    Family and domain databases

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

    Publicationsi

    1. "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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-408.
    2. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Brain and Testis.
    4. "Characterization of long cDNA clones from human adult spleen."
      Hattori A., Okumura K., Nagase T., Kikuno R., Hirosawa M., Ohara O.
      DNA Res. 7:357-366(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 304-1083 (ISOFORM 1).
      Tissue: Spleen.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 898-1083 (ISOFORM 1).
      Tissue: Testis.
    6. "Functional comparison of the K+-Cl- cotransporters KCC1 and KCC4."
      Mercado A., Song L., Vazquez N., Mount D.B., Gamba G.
      J. Biol. Chem. 275:30326-30334(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50 AND SER-62, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    9. Cited for: ENZYME REGULATION.

    Entry informationi

    Entry nameiS12A7_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y666
    Secondary accession number(s): A6NDS8
    , Q4G0F3, Q96I81, Q9H7I3, Q9H7I7, Q9UFW2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 13, 2002
    Last sequence update: December 4, 2007
    Last modified: October 1, 2014
    This is version 127 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3