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Q9UHW9

- S12A6_HUMAN

UniProt

Q9UHW9 - S12A6_HUMAN

Protein

Solute carrier family 12 member 6

Gene

SLC12A6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 142 (01 Oct 2014)
      Sequence version 2 (13 Dec 2002)
      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.

    Enzyme regulationi

    Activated by N-ethylmaleimide (NEM). Inhibited by DIOA, bumetanide and furosemide. Inhibited by WNK3.1 Publication

    Kineticsi

    1. KM=10.7 mM for extracellular Rb+ (isoform 1)1 Publication
    2. KM=7.3 mM for extracellular Cl- (isoform 1)1 Publication
    3. KM=17.2 mM for extracellular Rb+ (isoform 2)1 Publication
    4. KM=8.2 mM for extracellular Cl- (isoform 2)1 Publication

    GO - Molecular functioni

    1. potassium:chloride symporter activity Source: UniProtKB
    2. potassium ion transmembrane transporter activity Source: BHF-UCL
    3. protein kinase binding Source: BHF-UCL
    4. rubidium ion transmembrane transporter activity Source: BHF-UCL

    GO - Biological processi

    1. angiogenesis Source: UniProtKB
    2. cellular hypotonic response Source: BHF-UCL
    3. cellular hypotonic salinity response Source: UniProtKB
    4. chloride transmembrane transport Source: GOC
    5. chloride transport Source: GOC
    6. ion transport Source: UniProtKB
    7. potassium ion import Source: BHF-UCL
    8. potassium ion transport Source: UniProtKB-KW
    9. rubidium ion transport Source: BHF-UCL
    10. transmembrane transport Source: Reactome

    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.30.5.3. the cation-chloride cotransporter (ccc) family.

    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
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:10914. SLC12A6.

    Subcellular locationi

    GO - Cellular componenti

    1. basolateral plasma membrane Source: UniProtKB
    2. integral component of membrane Source: UniProtKB
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) [MIM:218000]: A disease that is characterized by severe progressive sensorimotor neuropathy, mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi218000. phenotype.
    Orphaneti1496. Corpus callosum agenesis - neuronopathy.
    PharmGKBiPA35808.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11501150Solute carrier family 12 member 6PRO_0000178037Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei32 – 321Phosphoserine1 Publication
    Glycosylationi379 – 3791N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi398 – 3981N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi411 – 4111N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi428 – 4281N-linked (GlcNAc...)Sequence Analysis
    Modified residuei1032 – 10321Phosphoserine2 Publications

    Post-translational modificationi

    N-glycosylated.2 Publications

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9UHW9.
    PaxDbiQ9UHW9.
    PRIDEiQ9UHW9.

    PTM databases

    PhosphoSiteiQ9UHW9.

    Expressioni

    Tissue specificityi

    Highly expressed in heart, brain and kidney. Detected at lower levels in skeletal muscle, placenta, lung and pancreas. Detected in umbilical vein endothelial cells. Isoform 2 is more abundant in kidney. Isoform 5 is testis specific. Expressed in the proximal tubule of the kidney (at protein level).1 Publication

    Inductioni

    Up-regulated by VEGF. Down-regulated by TNF.

    Gene expression databases

    ArrayExpressiQ9UHW9.
    BgeeiQ9UHW9.
    CleanExiHS_SLC12A6.
    GenevestigatoriQ9UHW9.

    Organism-specific databases

    HPAiHPA034563.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi115311. 2 interactions.
    IntActiQ9UHW9. 3 interactions.
    STRINGi9606.ENSP00000346112.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UHW9.
    SMRiQ9UHW9. Positions 469-660.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 185185CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini209 – 22315ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini246 – 27126CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini296 – 31823ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini344 – 3463CytoplasmicSequence Analysis
    Topological domaini372 – 479108ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini502 – 51514CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini544 – 55714ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini582 – 62039CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini645 – 6473ExtracellularSequence Analysis
    Topological domaini671 – 6766CytoplasmicSequence Analysis
    Topological domaini696 – 6961ExtracellularSequence Analysis
    Topological domaini720 – 1150431CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei186 – 20823HelicalSequence AnalysisAdd
    BLAST
    Transmembranei224 – 24522HelicalSequence AnalysisAdd
    BLAST
    Transmembranei272 – 29524HelicalSequence AnalysisAdd
    BLAST
    Transmembranei319 – 34325HelicalSequence AnalysisAdd
    BLAST
    Transmembranei347 – 37125HelicalSequence AnalysisAdd
    BLAST
    Transmembranei480 – 50122HelicalSequence AnalysisAdd
    BLAST
    Transmembranei516 – 54328HelicalSequence AnalysisAdd
    BLAST
    Transmembranei558 – 58124HelicalSequence AnalysisAdd
    BLAST
    Transmembranei621 – 64424HelicalSequence AnalysisAdd
    BLAST
    Transmembranei648 – 67023HelicalSequence AnalysisAdd
    BLAST
    Transmembranei677 – 69519HelicalSequence AnalysisAdd
    BLAST
    Transmembranei697 – 71923HelicalSequence 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.
    HOGENOMiHOG000092644.
    HOVERGENiHBG052852.
    InParanoidiQ9UHW9.
    KOiK14427.
    OMAiNNMTVPS.
    OrthoDBiEOG78M01J.
    PhylomeDBiQ9UHW9.
    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 (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative promoter usage and alternative splicing. Align

    Isoform 1 (identifier: Q9UHW9-1) [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

    MHPPETTTKM ASVRFMVTPT KIDDIPGLSD TSPDLSSRSS SRVRFSSRES     50
    VPETSRSEPM SEMSGATTSL ATVALDPPSD RTSHPQDVIE DLSQNSITGE 100
    HSQLLDDGHK KARNAYLNNS NYEEGDEYFD KNLALFEEEM DTRPKVSSLL 150
    NRMANYTNLT QGAKEHEEAE NITEGKKKPT KTPQMGTFMG VYLPCLQNIF 200
    GVILFLRLTW VVGTAGVLQA FAIVLICCCC TMLTAISMSA IATNGVVPAG 250
    GSYFMISRAL GPEFGGAVGL CFYLGTTFAA AMYILGAIEI FLVYIVPRAA 300
    IFHSDDALKE SAAMLNNMRV YGTAFLVLMV LVVFIGVRYV NKFASLFLAC 350
    VIVSILAIYA GAIKSSFAPP HFPVCMLGNR TLSSRHIDVC SKTKEINNMT 400
    VPSKLWGFFC NSSQFFNATC DEYFVHNNVT SIQGIPGLAS GIITENLWSN 450
    YLPKGEIIEK PSAKSSDVLG SLNHEYVLVD 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
    LENYGEALAA EQTIKHLMEA EKVKGFCQLV VAAKLREGIS HLIQSCGLGG 850
    MKHNTVVMGW PNGWRQSEDA RAWKTFIGTV RVTTAAHLAL LVAKNISFFP 900
    SNVEQFSEGN IDVWWIVHDG GMLMLLPFLL KQHKVWRKCS IRIFTVAQLE 950
    DNSIQMKKDL ATFLYHLRIE AEVEVVEMHD SDISAYTYER TLMMEQRSQM 1000
    LRHMRLSKTE RDREAQLVKD RNSMLRLTSI GSDEDEETET YQEKVHMTWT 1050
    KDKYMASRGQ KAKSMEGFQD LLNMRPDQSN VRRMHTAVKL NEVIVNKSHE 1100
    AKLVLLNMPG PPRNPEGDEN YMEFLEVLTE GLERVLLVRG GGSEVITIYS 1150
    Length:1,150
    Mass (Da):127,617
    Last modified:December 13, 2002 - v2
    Checksum:iF8BDD39181294EDD
    GO
    Isoform 2 (identifier: Q9UHW9-2) [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...RTSHPQDVIE → MPHFTVTKVE...KARIQDSDEP

    Note: Produced by alternative promoter usage.

    Show »
    Length:1,099
    Mass (Da):122,091
    Checksum:i1C9D8FE2A060E0DC
    GO
    Isoform 3 (identifier: Q9UHW9-3) [UniParc]FASTAAdd to Basket

    Also known as: KCC3a-X2M

    The sequence of this isoform differs from the canonical sequence as follows:
         91-105: Missing.

    Note: Does not differ in the osmotic set point of swelling activation but, activation is more rapid.

    Show »
    Length:1,135
    Mass (Da):125,993
    Checksum:iED4C3E7101CB0378
    GO
    Isoform 4 (identifier: Q9UHW9-4) [UniParc]FASTAAdd to Basket

    Also known as: KCC3a-S3

    The sequence of this isoform differs from the canonical sequence as follows:
         1-9: Missing.

    Show »
    Length:1,141
    Mass (Da):126,594
    Checksum:i1B71C660733649AF
    GO
    Isoform 5 (identifier: Q9UHW9-5) [UniParc]FASTAAdd to Basket

    Also known as: KCC3a-S, KCC3a-S1, KCC3a-S2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-59: Missing.

    Note: Does not differ in the osmotic set point of swelling activation but, activation is more rapid.

    Show »
    Length:1,091
    Mass (Da):121,125
    Checksum:iCFF92252688CAC1A
    GO
    Isoform 6 (identifier: Q9UHW9-6) [UniParc]FASTAAdd to Basket

    Also known as: KCC3b-X2M

    The sequence of this isoform differs from the canonical sequence as follows:
         1-51: Missing.
         52-90: PETSRSEPMS...RTSHPQDVIE → MPHFTVTKVE...KARIQDSDEP
         91-105: Missing.

    Show »
    Length:1,084
    Mass (Da):120,467
    Checksum:i1A8328CEC2EC3E54
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti802 – 8021E → H in AAF24986. (PubMed:10600773)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti415 – 4151F → S.
    Corresponds to variant rs2705339 [ dbSNP | Ensembl ].
    VAR_014960

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5959Missing in isoform 5. 1 PublicationVSP_041387Add
    BLAST
    Alternative sequencei1 – 5151Missing in isoform 2 and isoform 6. 3 PublicationsVSP_006115Add
    BLAST
    Alternative sequencei1 – 99Missing in isoform 4. 1 PublicationVSP_041388
    Alternative sequencei52 – 9039PETSR…QDVIE → MPHFTVTKVEDPEEGAAASI SQEPSLADIKARIQDSDEP in isoform 2 and isoform 6. 3 PublicationsVSP_006116Add
    BLAST
    Alternative sequencei91 – 10515Missing in isoform 3 and isoform 6. 1 PublicationVSP_041389Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF116242 mRNA. Translation: AAF24986.1.
    AF108831 mRNA. Translation: AAD25337.1.
    AF105366 mRNA. Translation: AAD39742.1.
    AF314956
    , AF314931, AF314933, AF314934, AF314935, AF314936, AF314937, AF314938, AF314939, AF314940, AF314941, AF314942, AF314943, AF314944, AF314945, AF314946, AF314947, AF314948, AF314949, AF314950, AF314951, AF314952, AF314953, AF314954, AF314955 Genomic DNA. Translation: AAM96215.1.
    AF314956
    , AF314932, AF314933, AF314934, AF314935, AF314936, AF314937, AF314938, AF314939, AF314940, AF314941, AF314942, AF314943, AF314944, AF314945, AF314946, AF314947, AF314948, AF314949, AF314950, AF314951, AF314952, AF314953, AF314954, AF314955 Genomic DNA. Translation: AAM96216.1.
    AF531258 mRNA. Translation: AAQ10026.1.
    AF531259 mRNA. Translation: AAQ10027.1.
    AF531260 mRNA. Translation: AAQ10028.1.
    DQ138323 mRNA. Translation: ABA02873.1.
    AK315283 mRNA. Translation: BAG37692.1.
    AC021822 Genomic DNA. No translation available.
    AC079203 Genomic DNA. No translation available.
    CH471125 Genomic DNA. Translation: EAW92295.1.
    CH471125 Genomic DNA. Translation: EAW92297.1.
    CH471125 Genomic DNA. Translation: EAW92301.1.
    BC126241 mRNA. Translation: AAI26242.1.
    BC126243 mRNA. Translation: AAI26244.1.
    AF477977 mRNA. Translation: AAL85335.1.
    AL117500 mRNA. Translation: CAB55965.1.
    CCDSiCCDS10036.1. [Q9UHW9-2]
    CCDS42010.1. [Q9UHW9-3]
    CCDS42011.1. [Q9UHW9-4]
    CCDS42012.1. [Q9UHW9-5]
    CCDS58352.1. [Q9UHW9-1]
    PIRiT17275.
    RefSeqiNP_001035959.1. NM_001042494.1. [Q9UHW9-5]
    NP_001035960.1. NM_001042495.1. [Q9UHW9-5]
    NP_001035961.1. NM_001042496.1. [Q9UHW9-4]
    NP_001035962.1. NM_001042497.1. [Q9UHW9-3]
    NP_005126.1. NM_005135.2. [Q9UHW9-2]
    NP_598408.1. NM_133647.1. [Q9UHW9-1]
    UniGeneiHs.510939.

    Genome annotation databases

    EnsembliENST00000290209; ENSP00000290209; ENSG00000140199. [Q9UHW9-2]
    ENST00000354181; ENSP00000346112; ENSG00000140199. [Q9UHW9-1]
    ENST00000397702; ENSP00000380814; ENSG00000140199. [Q9UHW9-5]
    ENST00000397707; ENSP00000380819; ENSG00000140199. [Q9UHW9-3]
    ENST00000458406; ENSP00000387725; ENSG00000140199. [Q9UHW9-5]
    ENST00000558589; ENSP00000452776; ENSG00000140199. [Q9UHW9-4]
    ENST00000558667; ENSP00000453473; ENSG00000140199. [Q9UHW9-1]
    ENST00000560611; ENSP00000454168; ENSG00000140199. [Q9UHW9-1]
    GeneIDi9990.
    KEGGihsa:9990.
    UCSCiuc001zhv.3. human. [Q9UHW9-2]
    uc001zhw.3. human. [Q9UHW9-1]
    uc001zhx.3. human. [Q9UHW9-3]

    Polymorphism databases

    DMDMi27151690.

    Keywords - Coding sequence diversityi

    Alternative promoter usage, Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF116242 mRNA. Translation: AAF24986.1 .
    AF108831 mRNA. Translation: AAD25337.1 .
    AF105366 mRNA. Translation: AAD39742.1 .
    AF314956
    , AF314931 , AF314933 , AF314934 , AF314935 , AF314936 , AF314937 , AF314938 , AF314939 , AF314940 , AF314941 , AF314942 , AF314943 , AF314944 , AF314945 , AF314946 , AF314947 , AF314948 , AF314949 , AF314950 , AF314951 , AF314952 , AF314953 , AF314954 , AF314955 Genomic DNA. Translation: AAM96215.1 .
    AF314956
    , AF314932 , AF314933 , AF314934 , AF314935 , AF314936 , AF314937 , AF314938 , AF314939 , AF314940 , AF314941 , AF314942 , AF314943 , AF314944 , AF314945 , AF314946 , AF314947 , AF314948 , AF314949 , AF314950 , AF314951 , AF314952 , AF314953 , AF314954 , AF314955 Genomic DNA. Translation: AAM96216.1 .
    AF531258 mRNA. Translation: AAQ10026.1 .
    AF531259 mRNA. Translation: AAQ10027.1 .
    AF531260 mRNA. Translation: AAQ10028.1 .
    DQ138323 mRNA. Translation: ABA02873.1 .
    AK315283 mRNA. Translation: BAG37692.1 .
    AC021822 Genomic DNA. No translation available.
    AC079203 Genomic DNA. No translation available.
    CH471125 Genomic DNA. Translation: EAW92295.1 .
    CH471125 Genomic DNA. Translation: EAW92297.1 .
    CH471125 Genomic DNA. Translation: EAW92301.1 .
    BC126241 mRNA. Translation: AAI26242.1 .
    BC126243 mRNA. Translation: AAI26244.1 .
    AF477977 mRNA. Translation: AAL85335.1 .
    AL117500 mRNA. Translation: CAB55965.1 .
    CCDSi CCDS10036.1. [Q9UHW9-2 ]
    CCDS42010.1. [Q9UHW9-3 ]
    CCDS42011.1. [Q9UHW9-4 ]
    CCDS42012.1. [Q9UHW9-5 ]
    CCDS58352.1. [Q9UHW9-1 ]
    PIRi T17275.
    RefSeqi NP_001035959.1. NM_001042494.1. [Q9UHW9-5 ]
    NP_001035960.1. NM_001042495.1. [Q9UHW9-5 ]
    NP_001035961.1. NM_001042496.1. [Q9UHW9-4 ]
    NP_001035962.1. NM_001042497.1. [Q9UHW9-3 ]
    NP_005126.1. NM_005135.2. [Q9UHW9-2 ]
    NP_598408.1. NM_133647.1. [Q9UHW9-1 ]
    UniGenei Hs.510939.

    3D structure databases

    ProteinModelPortali Q9UHW9.
    SMRi Q9UHW9. Positions 469-660.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115311. 2 interactions.
    IntActi Q9UHW9. 3 interactions.
    STRINGi 9606.ENSP00000346112.

    Chemistry

    DrugBanki DB00761. Potassium Chloride.
    GuidetoPHARMACOLOGYi 973.

    Protein family/group databases

    TCDBi 2.A.30.5.3. the cation-chloride cotransporter (ccc) family.

    PTM databases

    PhosphoSitei Q9UHW9.

    Polymorphism databases

    DMDMi 27151690.

    Proteomic databases

    MaxQBi Q9UHW9.
    PaxDbi Q9UHW9.
    PRIDEi Q9UHW9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000290209 ; ENSP00000290209 ; ENSG00000140199 . [Q9UHW9-2 ]
    ENST00000354181 ; ENSP00000346112 ; ENSG00000140199 . [Q9UHW9-1 ]
    ENST00000397702 ; ENSP00000380814 ; ENSG00000140199 . [Q9UHW9-5 ]
    ENST00000397707 ; ENSP00000380819 ; ENSG00000140199 . [Q9UHW9-3 ]
    ENST00000458406 ; ENSP00000387725 ; ENSG00000140199 . [Q9UHW9-5 ]
    ENST00000558589 ; ENSP00000452776 ; ENSG00000140199 . [Q9UHW9-4 ]
    ENST00000558667 ; ENSP00000453473 ; ENSG00000140199 . [Q9UHW9-1 ]
    ENST00000560611 ; ENSP00000454168 ; ENSG00000140199 . [Q9UHW9-1 ]
    GeneIDi 9990.
    KEGGi hsa:9990.
    UCSCi uc001zhv.3. human. [Q9UHW9-2 ]
    uc001zhw.3. human. [Q9UHW9-1 ]
    uc001zhx.3. human. [Q9UHW9-3 ]

    Organism-specific databases

    CTDi 9990.
    GeneCardsi GC15M034522.
    GeneReviewsi SLC12A6.
    HGNCi HGNC:10914. SLC12A6.
    HPAi HPA034563.
    MIMi 218000. phenotype.
    604878. gene.
    neXtProti NX_Q9UHW9.
    Orphaneti 1496. Corpus callosum agenesis - neuronopathy.
    PharmGKBi PA35808.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0531.
    HOGENOMi HOG000092644.
    HOVERGENi HBG052852.
    InParanoidi Q9UHW9.
    KOi K14427.
    OMAi NNMTVPS.
    OrthoDBi EOG78M01J.
    PhylomeDBi Q9UHW9.
    TreeFami TF313657.

    Enzyme and pathway databases

    Reactomei REACT_19315. Cation-coupled Chloride cotransporters.

    Miscellaneous databases

    ChiTaRSi SLC12A6. human.
    GeneWikii SLC12A6.
    GenomeRNAii 9990.
    NextBioi 37729.
    PROi Q9UHW9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UHW9.
    Bgeei Q9UHW9.
    CleanExi HS_SLC12A6.
    Genevestigatori Q9UHW9.

    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. "Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter."
      Race J.E., Makhlouf F.N., Logue P.J., Wilson F.H., Dunham P.B., Holtzman E.J.
      Am. J. Physiol. 277:C1210-C1219(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TOPOLOGY.
      Tissue: Placenta.
    2. "Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter."
      Hiki K., D'Andrea R.J., Furze J., Crawford J., Woollatt E., Sutherland G.R., Vadas M.A., Gamble J.R.
      J. Biol. Chem. 274:10661-10667(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), GLYCOSYLATION, REGULATION BY VEGF AND TNF.
      Tissue: Umbilical vein.
    3. "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).
    4. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), GLYCOSYLATION, DISEASE.
    5. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3; 4; 5), ALTERNATIVE SPLICING (ISOFORM 6), ALTERNATIVE PROMOTER USAGE, TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES.
    6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Uterus.
    7. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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] (ISOFORM 2).
      Tissue: Brain.
    10. Guo J.H., Yu L.
      Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 70-1150 (ISOFORM 1).
      Tissue: Testis.
    11. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 137-1150 (ISOFORM 1).
      Tissue: Testis.
    12. "A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity."
      Casula S., Shmukler B.E., Wilhelm S., Stuart-Tilley A.K., Su W., Chernova M.N., Brugnara C., Alper S.L.
      J. Biol. Chem. 276:41870-41878(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT.
    13. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1032, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    14. "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-32, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    15. Cited for: ENZYME REGULATION.
    16. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1032, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiS12A6_HUMAN
    AccessioniPrimary (citable) accession number: Q9UHW9
    Secondary accession number(s): A0AV76
    , Q2VI00, Q7Z2E7, Q7Z4G5, Q8TDD4, Q9UFR2, Q9Y642, Q9Y665
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 13, 2002
    Last sequence update: December 13, 2002
    Last modified: October 1, 2014
    This is version 142 of the entry and version 2 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 15
      Human chromosome 15: 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