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Q9UP95

- S12A4_HUMAN

UniProt

Q9UP95 - S12A4_HUMAN

Protein

Solute carrier family 12 member 4

Gene

SLC12A4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 2 (13 Dec 2002)
      Previous versions | rss
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    Functioni

    Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl- exit in NaCl absorbing epithelia By similarity. Isoform 4 has no transport activity.By similarity

    Enzyme regulationi

    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: ProtInc
    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.30.5.5. the cation-chloride cotransporter (ccc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 12 member 4
    Alternative name(s):
    Electroneutral potassium-chloride cotransporter 1
    Erythroid K-Cl cotransporter 1
    Short name:
    hKCC1
    Gene namesi
    Name:SLC12A4
    Synonyms:KCC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:10913. SLC12A4.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. lysosomal membrane Source: UniProtKB
    3. membrane Source: ProtInc
    4. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA35807.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10851085Solute carrier family 12 member 4PRO_0000178030Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei47 – 471PhosphoserineBy similarity
    Modified residuei51 – 511Phosphoserine1 Publication
    Glycosylationi245 – 2451N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi312 – 3121N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi331 – 3311N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi347 – 3471N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi439 – 4391N-linked (GlcNAc...)Sequence Analysis
    Modified residuei967 – 9671Phosphoserine4 Publications

    Post-translational modificationi

    N-glycosylated.

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9UP95.
    PaxDbiQ9UP95.
    PRIDEiQ9UP95.

    PTM databases

    PhosphoSiteiQ9UP95.

    Expressioni

    Tissue specificityi

    Ubiquitous. Levels are much higher in erythrocytes from patients with Hb SC and Hb SS compared to normal AA erythrocytes. This may contribute to red blood cell dehydration and to the manifestation of sickle cell disease by increasing the intracellular concentration of HbS. Isoform 1 was not detected in circulating reticulocytes.

    Gene expression databases

    ArrayExpressiQ9UP95.
    BgeeiQ9UP95.
    CleanExiHS_SLC12A4.
    GenevestigatoriQ9UP95.

    Organism-specific databases

    HPAiHPA041138.

    Interactioni

    Subunit structurei

    Homomultimer and heteromultimer with other K-Cl cotransporters.1 Publication

    Protein-protein interaction databases

    BioGridi112449. 7 interactions.
    IntActiQ9UP95. 1 interaction.
    MINTiMINT-1191426.
    STRINGi9606.ENSP00000318557.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UP95.
    SMRiQ9UP95. Positions 409-595.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 118118CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini170 – 21445CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini274 – 2752CytoplasmicSequence Analysis
    Topological domaini377 – 40731CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini474 – 49320CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini588 – 62740CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini866 – 1085220CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei119 – 13921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei149 – 16921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei215 – 23521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei253 – 27321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei276 – 29621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei356 – 37621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei408 – 42821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei453 – 47321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei494 – 51421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei567 – 58721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei628 – 64821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei845 – 86521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi160 – 1634Poly-Cys

    Sequence similaritiesi

    Belongs to the SLC12A transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0531.
    HOGENOMiHOG000092644.
    HOVERGENiHBG052852.
    InParanoidiQ9UP95.
    KOiK14427.
    OMAiERYNEGN.
    OrthoDBiEOG78M01J.
    PhylomeDBiQ9UP95.
    TreeFamiTF313657.

    Family and domain databases

    InterProiIPR004841. AA-permease/SLC12A_dom.
    IPR000622. K/Cl_cotranspt1.
    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.
    PR01082. KCLTRNSPORT1.
    TIGRFAMsiTIGR00930. 2a30. 1 hit.

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Note: Experimental confirmation may be lacking for some isoforms.

    Isoform 1 (identifier: Q9UP95-1) [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

    MPHFTVVPVD GPRRGDYDNL EGLSWVDYGE RAELDDSDGH GNHRESSPFL     50
    SPLEASRGID YYDRNLALFE EELDIRPKVS SLLGKLVSYT NLTQGAKEHE 100
    EAESGEGTRR RAAEAPSMGT LMGVYLPCLQ NIFGVILFLR LTWMVGTAGV 150
    LQALLIVLIC CCCTLLTAIS MSAIATNGVV PAGGSYFMIS RSLGPEFGGA 200
    VGLCFYLGTT FAAAMYILGA IEILLTYIAP PAAIFYPSGA HDTSNATLNN 250
    MRVYGTIFLT FMTLVVFVGV KYVNKFASLF LACVIISILS IYAGGIKSIF 300
    DPPVFPVCML GNRTLSRDQF DICAKTAVVD NETVATQLWS FFCHSPNLTT 350
    DSCDPYFMLN NVTEIPGIPG AAAGVLQENL WSAYLEKGDI VEKHGLPSAD 400
    APSLKESLPL YVVADIATSF TVLVGIFFPS VTGIMAGSNR SGDLRDAQKS 450
    IPVGTILAII TTSLVYFSSV VLFGACIEGV VLRDKYGDGV SRNLVVGTLA 500
    WPSPWVIVIG SFFSTCGAGL QSLTGAPRLL QAIAKDNIIP FLRVFGHGKV 550
    NGEPTWALLL TALIAELGIL IASLDMVAPI LSMFFLMCYL FVNLACAVQT 600
    LLRTPNWRPR FKYYHWALSF LGMSLCLALM FVSSWYYALV AMLIAGMIYK 650
    YIEYQGAEKE WGDGIRGLSL SAARYALLRL EEGPPHTKNW RPQLLVLLKL 700
    DEDLHVKYPR LLTFASQLKA GKGLTIVGSV IQGSFLESYG EAQAAEQTIK 750
    NMMEIEKVKG FCQVVVASKV REGLAHLIQS CGLGGMRHNS VVLGWPYGWR 800
    QSEDPRAWKT FIDTVRCTTA AHLALLVPKN IAFYPSNHER YLEGHIDVWW 850
    IVHDGGMLML LPFLLRQHKV WRKCRMRIFT VAQMDDNSIQ MKKDLAVFLY 900
    HLRLEAEVEV VEMHNSDISA YTYERTLMME QRSQMLRQMR LTKTEREREA 950
    QLVKDRHSAL RLESLYSDEE DESAVGADKI QMTWTRDKYM TETWDPSHAP 1000
    DNFRELVHIK PDQSNVRRMH TAVKLNEVIV TRSHDARLVL LNMPGPPRNS 1050
    EGDENYMEFL EVLTEGLERV LLVRGGGREV ITIYS 1085
    Length:1,085
    Mass (Da):120,650
    Last modified:December 13, 2002 - v2
    Checksum:i42B590EC3D94EA4D
    GO
    Isoform 2 (identifier: Q9UP95-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1056-1068: YMEFLEVLTEGLE → CIPLWRGRQLGGG
         1069-1085: Missing.

    Show »
    Length:1,068
    Mass (Da):118,620
    Checksum:i7A1FB4FD47252C88
    GO
    Isoform 3 (identifier: Q9UP95-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1012-1085: Missing.

    Show »
    Length:1,011
    Mass (Da):112,275
    Checksum:i33860CBEC1BE578B
    GO
    Isoform 4 (identifier: Q9UP95-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         749-955: Missing.
         956-958: RHS → PCA
         963-987: ESLYSDEEDESAVGADKIQMTWTRD → PTWPCSCPRTSPSTPATTSATWRAT
         988-1085: Missing.

    Show »
    Length:780
    Mass (Da):84,701
    Checksum:i63DD249B6CA8689C
    GO
    Isoform 5 (identifier: Q9UP95-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-38: MPHFTVVPVDGPRRGDYDNLEGLSWVDYGERAELDDSD → MGDTLSP

    Note: No experimental confirmation available.

    Show »
    Length:1,054
    Mass (Da):117,046
    Checksum:i328721D9B50DF738
    GO
    Isoform 6 (identifier: Q9UP95-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-38: MPHFTVVPVDGPRRGDYDNLEGLSWVDYGERAELDDSD → MAAEGAVCGFVYLEGTAWAVPEDTEPLASCTL

    Note: No experimental confirmation available.Curated

    Show »
    Length:1,079
    Mass (Da):119,629
    Checksum:iEC9A4E5C31C90A87
    GO
    Isoform 7 (identifier: Q9UP95-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-70: MPHFTVVPVD...YYDRNLALFE → MRAGGACRPG...GSAPSWMTRT

    Note: No experimental confirmation available.

    Show »
    Length:1,087
    Mass (Da):119,745
    Checksum:i701F57E7F5732CBD
    GO

    Sequence cautioni

    The sequence AAC35282.1 differs from that shown. Reason: Frameshift at position 454.
    The sequence BAG57330.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti42 – 421N → D in BAG61116. (PubMed:14702039)Curated
    Sequence conflicti211 – 2111F → L in BAG63994. (PubMed:14702039)Curated
    Sequence conflicti288 – 2881I → N in BAG63994. (PubMed:14702039)Curated
    Sequence conflicti370 – 3701G → R in BAG57330. (PubMed:14702039)Curated
    Sequence conflicti697 – 6971L → P in BAG63994. (PubMed:14702039)Curated
    Sequence conflicti1016 – 10161V → A in BAG57330. (PubMed:14702039)Curated
    Sequence conflicti1055 – 10551N → D in BAG57330. (PubMed:14702039)Curated
    Isoform 6 (identifier: Q9UP95-6)
    Sequence conflicti4 – 41E → G in BAH14786. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7070MPHFT…LALFE → MRAGGACRPGAAGTAAGTAA GGWDGGCGGAEPARCLTSPW CQWTGRGAATMTTSRGSVGW TTGSAPSWMTRT in isoform 7. 1 PublicationVSP_046369Add
    BLAST
    Alternative sequencei1 – 3838MPHFT…LDDSD → MGDTLSP in isoform 5. 1 PublicationVSP_044596Add
    BLAST
    Alternative sequencei1 – 3838MPHFT…LDDSD → MAAEGAVCGFVYLEGTAWAV PEDTEPLASCTL in isoform 6. 1 PublicationVSP_046146Add
    BLAST
    Alternative sequencei749 – 955207Missing in isoform 4. 1 PublicationVSP_006108Add
    BLAST
    Alternative sequencei956 – 9583RHS → PCA in isoform 4. 1 PublicationVSP_006109
    Alternative sequencei963 – 98725ESLYS…TWTRD → PTWPCSCPRTSPSTPATTSA TWRAT in isoform 4. 1 PublicationVSP_006110Add
    BLAST
    Alternative sequencei988 – 108598Missing in isoform 4. 1 PublicationVSP_006111Add
    BLAST
    Alternative sequencei1012 – 108574Missing in isoform 3. 1 PublicationVSP_006112Add
    BLAST
    Alternative sequencei1056 – 106813YMEFL…TEGLE → CIPLWRGRQLGGG in isoform 2. 1 PublicationVSP_006113Add
    BLAST
    Alternative sequencei1069 – 108517Missing in isoform 2. 1 PublicationVSP_006114Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U55054 mRNA. Translation: AAC50563.1.
    AF047338 mRNA. Translation: AAC32815.1.
    AF054505 mRNA. Translation: AAC39684.1.
    AF054506 mRNA. Translation: AAC39685.1.
    AK293956 mRNA. Translation: BAG57330.1. Different initiation.
    AK299042 mRNA. Translation: BAG61116.1.
    AK302790 mRNA. Translation: BAG63994.1.
    AK316415 mRNA. Translation: BAH14786.1.
    AC040162 Genomic DNA. No translation available.
    BC021193 mRNA. Translation: AAH21193.1.
    AF053402 mRNA. Translation: AAC35282.1. Frameshift.
    AY026038 mRNA. Translation: AAK01946.1.
    CCDSiCCDS10855.1. [Q9UP95-1]
    CCDS54030.1. [Q9UP95-6]
    CCDS54031.1. [Q9UP95-5]
    CCDS54032.1. [Q9UP95-7]
    RefSeqiNP_001139433.1. NM_001145961.1.
    NP_001139434.1. NM_001145962.1. [Q9UP95-7]
    NP_001139435.1. NM_001145963.1. [Q9UP95-6]
    NP_001139436.1. NM_001145964.1. [Q9UP95-5]
    NP_005063.1. NM_005072.4. [Q9UP95-1]
    UniGeneiHs.10094.

    Genome annotation databases

    EnsembliENST00000316341; ENSP00000318557; ENSG00000124067. [Q9UP95-1]
    ENST00000422611; ENSP00000395983; ENSG00000124067. [Q9UP95-7]
    ENST00000537830; ENSP00000445962; ENSG00000124067. [Q9UP95-6]
    ENST00000541864; ENSP00000438334; ENSG00000124067. [Q9UP95-5]
    ENST00000576616; ENSP00000458902; ENSG00000124067. [Q9UP95-2]
    GeneIDi6560.
    KEGGihsa:6560.
    UCSCiuc002euz.2. human. [Q9UP95-1]
    uc002eva.2. human. [Q9UP95-2]

    Polymorphism databases

    DMDMi27151691.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U55054 mRNA. Translation: AAC50563.1 .
    AF047338 mRNA. Translation: AAC32815.1 .
    AF054505 mRNA. Translation: AAC39684.1 .
    AF054506 mRNA. Translation: AAC39685.1 .
    AK293956 mRNA. Translation: BAG57330.1 . Different initiation.
    AK299042 mRNA. Translation: BAG61116.1 .
    AK302790 mRNA. Translation: BAG63994.1 .
    AK316415 mRNA. Translation: BAH14786.1 .
    AC040162 Genomic DNA. No translation available.
    BC021193 mRNA. Translation: AAH21193.1 .
    AF053402 mRNA. Translation: AAC35282.1 . Frameshift.
    AY026038 mRNA. Translation: AAK01946.1 .
    CCDSi CCDS10855.1. [Q9UP95-1 ]
    CCDS54030.1. [Q9UP95-6 ]
    CCDS54031.1. [Q9UP95-5 ]
    CCDS54032.1. [Q9UP95-7 ]
    RefSeqi NP_001139433.1. NM_001145961.1.
    NP_001139434.1. NM_001145962.1. [Q9UP95-7 ]
    NP_001139435.1. NM_001145963.1. [Q9UP95-6 ]
    NP_001139436.1. NM_001145964.1. [Q9UP95-5 ]
    NP_005063.1. NM_005072.4. [Q9UP95-1 ]
    UniGenei Hs.10094.

    3D structure databases

    ProteinModelPortali Q9UP95.
    SMRi Q9UP95. Positions 409-595.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112449. 7 interactions.
    IntActi Q9UP95. 1 interaction.
    MINTi MINT-1191426.
    STRINGi 9606.ENSP00000318557.

    Chemistry

    DrugBanki DB00887. Bumetanide.
    DB00761. Potassium Chloride.
    GuidetoPHARMACOLOGYi 971.

    Protein family/group databases

    TCDBi 2.A.30.5.5. the cation-chloride cotransporter (ccc) family.

    PTM databases

    PhosphoSitei Q9UP95.

    Polymorphism databases

    DMDMi 27151691.

    Proteomic databases

    MaxQBi Q9UP95.
    PaxDbi Q9UP95.
    PRIDEi Q9UP95.

    Protocols and materials databases

    DNASUi 6560.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316341 ; ENSP00000318557 ; ENSG00000124067 . [Q9UP95-1 ]
    ENST00000422611 ; ENSP00000395983 ; ENSG00000124067 . [Q9UP95-7 ]
    ENST00000537830 ; ENSP00000445962 ; ENSG00000124067 . [Q9UP95-6 ]
    ENST00000541864 ; ENSP00000438334 ; ENSG00000124067 . [Q9UP95-5 ]
    ENST00000576616 ; ENSP00000458902 ; ENSG00000124067 . [Q9UP95-2 ]
    GeneIDi 6560.
    KEGGi hsa:6560.
    UCSCi uc002euz.2. human. [Q9UP95-1 ]
    uc002eva.2. human. [Q9UP95-2 ]

    Organism-specific databases

    CTDi 6560.
    GeneCardsi GC16M067979.
    HGNCi HGNC:10913. SLC12A4.
    HPAi HPA041138.
    MIMi 604119. gene.
    neXtProti NX_Q9UP95.
    PharmGKBi PA35807.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0531.
    HOGENOMi HOG000092644.
    HOVERGENi HBG052852.
    InParanoidi Q9UP95.
    KOi K14427.
    OMAi ERYNEGN.
    OrthoDBi EOG78M01J.
    PhylomeDBi Q9UP95.
    TreeFami TF313657.

    Enzyme and pathway databases

    Reactomei REACT_19315. Cation-coupled Chloride cotransporters.

    Miscellaneous databases

    GeneWikii Chloride_potassium_symporter_4.
    GenomeRNAii 6560.
    NextBioi 25527.
    PROi Q9UP95.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UP95.
    Bgeei Q9UP95.
    CleanExi HS_SLC12A4.
    Genevestigatori Q9UP95.

    Family and domain databases

    InterProi IPR004841. AA-permease/SLC12A_dom.
    IPR000622. K/Cl_cotranspt1.
    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.
    PR01082. KCLTRNSPORT1.
    TIGRFAMsi TIGR00930. 2a30. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and functional expression of the K-Cl cotransporter from rabbit, rat, and human. A new member of the cation-chloride cotransporter family."
      Gillen C.M., Brill S., Payne J.A., Forbush B. III
      J. Biol. Chem. 271:16237-16244(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Embryonic kidney.
    2. "Molecular identification and expression of erythroid K:Cl cotransporter in human and mouse erythroleukemic cells."
      Pellegrino C.M., Rybicki A.C., Musto S., Nagel R.L., Schwartz R.S.
      Blood Cells Mol. Dis. 24:31-40(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
      Tissue: Erythroleukemia.
    3. "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] (ISOFORMS 5 AND 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 25-1087 (ISOFORM 7).
      Tissue: Cerebellum and Testis.
    4. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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 1).
      Tissue: Eye.
    6. Golding S., Culliford S.J., Ellory J.C.
      Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 280-517.
      Tissue: Erythroleukemia.
    7. "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: NUCLEOTIDE SEQUENCE [MRNA] OF 684-1085 (ISOFORM 4), SUBUNIT.
    8. "Mouse K-Cl cotransporter KCC1: cloning, mapping, pathological expression, and functional regulation."
      Su W., Shmukler B.E., Chernova M.N., Stuart-Tilley A.K., de Franceschi L., Brugnara C., Alper S.L.
      Am. J. Physiol. 277:C899-C912(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: EXPRESSION IN ERYTHROCYTE MEMBRANES.
    9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-51 AND SER-967, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. "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-967, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-967, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. Cited for: ENZYME REGULATION.
    13. "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-967, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiS12A4_HUMAN
    AccessioniPrimary (citable) accession number: Q9UP95
    Secondary accession number(s): B4DF69
    , B4DR04, B4DZ82, B7ZAV0, F5H066, F5H0S9, F5H3C0, O60632, O75893, Q13953, Q96LD5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 13, 2002
    Last sequence update: December 13, 2002
    Last modified: October 1, 2014
    This is version 132 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 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3