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Q9Y666

- S12A7_HUMAN

UniProt

Q9Y666 - S12A7_HUMAN

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Protein

Solute carrier family 12 member 7

Gene
SLC12A7, KCC4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.1 Publication

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 118118Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei119 – 13921Helical; Reviewed predictionAdd
BLAST
Transmembranei141 – 16121Helical; Reviewed predictionAdd
BLAST
Topological domaini162 – 21453Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei215 – 23521Helical; Reviewed predictionAdd
BLAST
Transmembranei253 – 27321Helical; Reviewed predictionAdd
BLAST
Topological domaini274 – 2752Cytoplasmic Reviewed prediction
Transmembranei276 – 29621Helical; Reviewed predictionAdd
BLAST
Transmembranei416 – 43621Helical; Reviewed predictionAdd
BLAST
Topological domaini437 – 45620Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei457 – 47721Helical; Reviewed predictionAdd
BLAST
Transmembranei494 – 51421Helical; Reviewed predictionAdd
BLAST
Topological domaini515 – 55339Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei554 – 57421Helical; Reviewed predictionAdd
BLAST
Transmembranei578 – 59821Helical; Reviewed predictionAdd
BLAST
Topological domaini599 – 62426Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei625 – 64521Helical; Reviewed predictionAdd
BLAST
Transmembranei845 – 86521Helical; Reviewed predictionAdd
BLAST
Topological domaini866 – 1083218Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

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

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...) Reviewed prediction
Glycosylationi360 – 3601N-linked (GlcNAc...) Reviewed prediction

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.

Family & Domainsi

Sequence similaritiesi

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

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. VSP_006119Add
BLAST
Alternative sequencei267 – 1083817Missing in isoform 2. VSP_006120Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti522 – 5221S → T in AAD39741. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 126 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

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