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Protein

Solute carrier family 12 member 7

Gene

Slc12a7

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (By similarity). 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 similarity1 Publication

Enzyme regulationi

Inhibited by WNK3.By similarity

GO - Molecular functioni

GO - Biological processi

  • cell volume homeostasis Source: InterPro
  • chemical synaptic transmission Source: GO_Central
  • chloride transmembrane transport Source: MGI
Complete GO annotation...

Keywords - Biological processi

Ion transport, Potassium transport, Symport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

ReactomeiR-MMU-426117. Cation-coupled Chloride cotransporters.

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
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 13

Organism-specific databases

MGIiMGI:1342283. Slc12a7.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 118CytoplasmicSequence analysisAdd BLAST118
Transmembranei119 – 139HelicalSequence analysisAdd BLAST21
Transmembranei141 – 161HelicalSequence analysisAdd BLAST21
Topological domaini162 – 200CytoplasmicSequence analysisAdd BLAST39
Transmembranei201 – 221HelicalSequence analysisAdd BLAST21
Transmembranei253 – 273HelicalSequence analysisAdd BLAST21
Topological domaini274 – 275CytoplasmicSequence analysis2
Transmembranei276 – 296HelicalSequence analysisAdd BLAST21
Transmembranei416 – 436HelicalSequence analysisAdd BLAST21
Topological domaini437 – 456CytoplasmicSequence analysisAdd BLAST20
Transmembranei457 – 477HelicalSequence analysisAdd BLAST21
Transmembranei494 – 514HelicalSequence analysisAdd BLAST21
Topological domaini515 – 553CytoplasmicSequence analysisAdd BLAST39
Transmembranei554 – 574HelicalSequence analysisAdd BLAST21
Transmembranei578 – 598HelicalSequence analysisAdd BLAST21
Topological domaini599 – 624CytoplasmicSequence analysisAdd BLAST26
Transmembranei625 – 645HelicalSequence analysisAdd BLAST21
Transmembranei845 – 865HelicalSequence analysisAdd BLAST21
Topological domaini866 – 1083CytoplasmicSequence analysisAdd BLAST218

GO - Cellular componenti

  • integral component of plasma membrane Source: InterPro
  • plasma membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Defects in Slc12a7 are a cause of deafness due to the progressive degeneration of outer and inner hair cells in the cochlea and of neurons in the cochlear ganglion, leading to the loss of the organ of Corti.

Keywords - Diseasei

Deafness

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001780401 – 1083Solute carrier family 12 member 7Add BLAST1083

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei30PhosphoserineCombined sources1
Modified residuei33PhosphoserineCombined sources1
Modified residuei37PhosphothreonineCombined sources1
Modified residuei50PhosphoserineCombined sources1
Modified residuei62PhosphoserineBy similarity1
Glycosylationi312N-linked (GlcNAc...) (high mannose)1 Publication1
Glycosylationi331N-linked (GlcNAc...) (complex)3 Publications1
Glycosylationi344N-linked (GlcNAc...) (complex)1 Publication1
Glycosylationi360N-linked (GlcNAc...) (high mannose)1 Publication1
Modified residuei973PhosphothreonineCombined sources1
Modified residuei980PhosphothreonineCombined sources1

Post-translational modificationi

Glycosylation at Asn-331 and Asn-344 is required for proper trafficking to the cell surface, and augments protein stability.3 Publications

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9WVL3.
PeptideAtlasiQ9WVL3.
PRIDEiQ9WVL3.

PTM databases

iPTMnetiQ9WVL3.
PhosphoSitePlusiQ9WVL3.

Expressioni

Tissue specificityi

Detected in proximal tubules in the kidney, in particular in basolateral membranes of intercalated cells in the cortical collecting duct.

Developmental stagei

In 8 day old mice, before the onset of hearing, detected in membranes of the stria vascularis and in most cells of the organ of Corti. At P14, when the organ of Corti has matured, expression is no longer detected in hair cells and the stria, but is restricted to Deiters' cells that are supporting outer hair cells and to phalangeal cells enveloping the inner hair cells.

Gene expression databases

BgeeiENSMUSG00000017756.
CleanExiMM_SLC12A7.
ExpressionAtlasiQ9WVL3. baseline and differential.
GenevisibleiQ9WVL3. MM.

Interactioni

Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000017900.

Structurei

3D structure databases

ProteinModelPortaliQ9WVL3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SLC12A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2082. Eukaryota.
COG0531. LUCA.
GeneTreeiENSGT00760000119053.
HOGENOMiHOG000092644.
HOVERGENiHBG052852.
InParanoidiQ9WVL3.
KOiK13627.
OMAiLMAWPQS.
OrthoDBiEOG091G0WB4.
PhylomeDBiQ9WVL3.
TreeFamiTF313657.

Family and domain databases

InterProiIPR004841. AA-permease/SLC12A_dom.
IPR030354. KCC4.
IPR000076. KCL_cotranspt.
IPR018491. SLC12_C.
IPR004842. SLC12A_fam.
[Graphical view]
PANTHERiPTHR11827:SF47. PTHR11827:SF47. 4 hits.
PfamiPF00324. AA_permease. 2 hits.
PF03522. SLC12. 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. AlignAdd to basket

Isoform 1 (identifier: Q9WVL3-1) [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

        10         20         30         40         50
MPTNFTVVPV EARADGAGDE AAERTEEPES PESVDQTSPT PGDGNPRENS
60 70 80 90 100
PFINNVEVER ESYFEGKNMA LFEEEMDSNP MVSSLLNKLA NYTNLSQGVV
110 120 130 140 150
EHEEDEDSRR REVKAPRMGT FIGVYLPCLQ NILGVILFLR LTWIVGAAGV
160 170 180 190 200
MESFLIVAMC CTCTMLTAIS MSAIATNGVV PAGGSYYMIS RSLGPEFGGA
210 220 230 240 250
VGLCFYLGTT FAGAMYILGT IEIFLTYISP SAAIFQAETA DGEAAALLNN
260 270 280 290 300
MRVYGSCALA LMAVVVFVGV KYVNKLALVF LACVVLSILA IYAGVIKTAF
310 320 330 340 350
APPDIPVCLL GNRTLANRNF DTCAKMQVVS NGTVTTALWR LFCNGSSLGA
360 370 380 390 400
TCDEYFAQNN VTEIQGIPGV ASGVFLDNLW STYSDKGAFV EKKGVSSVPV
410 420 430 440 450
SEESRPGGLP YVLTDIMTYF TMLVGIYFPS VTGIMAGSNR SGDLKDAQKS
460 470 480 490 500
IPTGTILAIV TTSFIYLSCI VLFGACIEGV VLRDKFGEAL QGNLVIGMLA
510 520 530 540 550
WPSPWVIVIG SFFSTCGAGL QSLTGAPRLL QAIARDGIIP FLQVFGHGKA
560 570 580 590 600
NGEPTWALLL TALICETGIL IASLDSVAPI LSMFFLMCYM FVNLACAVQT
610 620 630 640 650
LLRTPNWRPR FKFYHWTLSF LGMSLCLALM FICSWYYALF AMLIAGCIYK
660 670 680 690 700
YIEYRGAEKE WGDGIRGLSL NAARYALLRV EHGPPHTKNW RPQVLVMLNL
710 720 730 740 750
DSEQCVKHPR LLSFTSQLKA GKGLTIVGSV LEGTYLDKHV EAQRAEENIR
760 770 780 790 800
SLMSAEKTKG FCQLVVSSNL RDGASHLIQS AGLGGMKHNT VLMAWPEAWK
810 820 830 840 850
EADNPFSWKN FVDTVRDTTA AHQALLVAKN IDLFPQNQER FSDGNIDVWW
860 870 880 890 900
IVHDGGMLML LPFLLRQHKV WRKCRMRIFT VAQVDDNSIQ MKKDLQMFLY
910 920 930 940 950
HLRISAEVEV VEMVENDISA FTYEKTLMME QRSQMLKQMQ LSKNEREREA
960 970 980 990 1000
QLIHDRNTAS HTTATARTQA PPTPDKVQMT WTKEKLIAEK HRNKDTGPSG
1010 1020 1030 1040 1050
FKDLFSLKPD QSNVRRMHTA VKLNGVVLNK SQDAQLVLLN MPGPPKSRQG
1060 1070 1080
DENYMEFLEV LTEGLNRVLL VRGGGREVIT IYS
Length:1,083
Mass (Da):119,481
Last modified:November 1, 1999 - v1
Checksum:iE339D43F7D3B6BD7
GO
Isoform 2 (identifier: Q9WVL3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1010-1080: DQSNVRRMHT...VRGGGREVIT → LLHFMLFENR...GLTGATETHL

Note: No experimental confirmation available.
Show »
Length:1,054
Mass (Da):116,549
Checksum:i1F3DDB7BC541B893
GO

Sequence cautioni

The sequence BAD21379 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAE42491 differs from that shown. Reason: Frameshift at position 32.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti40T → M in BAE41477 (PubMed:16141072).Curated1
Sequence conflicti355Y → F in BAE41477 (PubMed:16141072).Curated1
Sequence conflicti951Q → P in BAE29061 (PubMed:16141072).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0277701010 – 1080DQSNV…REVIT → LLHFMLFENRCWTKHTVIVP FPWSEFRVPVMKGLTGATET HL in isoform 2. 1 PublicationAdd BLAST71

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF087436 mRNA. Translation: AAD38328.1.
AK131129 mRNA. Translation: BAD21379.1. Different initiation.
AK149750 mRNA. Translation: BAE29061.1.
AK169950 mRNA. Translation: BAE41477.1.
AK171498 mRNA. Translation: BAE42491.1. Frameshift.
CCDSiCCDS26635.1. [Q9WVL3-1]
RefSeqiNP_035520.1. NM_011390.2. [Q9WVL3-1]
UniGeneiMm.275800.

Genome annotation databases

EnsembliENSMUST00000017900; ENSMUSP00000017900; ENSMUSG00000017756. [Q9WVL3-1]
GeneIDi20499.
KEGGimmu:20499.
UCSCiuc007reb.1. mouse. [Q9WVL3-2]
uc007rec.1. mouse. [Q9WVL3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF087436 mRNA. Translation: AAD38328.1.
AK131129 mRNA. Translation: BAD21379.1. Different initiation.
AK149750 mRNA. Translation: BAE29061.1.
AK169950 mRNA. Translation: BAE41477.1.
AK171498 mRNA. Translation: BAE42491.1. Frameshift.
CCDSiCCDS26635.1. [Q9WVL3-1]
RefSeqiNP_035520.1. NM_011390.2. [Q9WVL3-1]
UniGeneiMm.275800.

3D structure databases

ProteinModelPortaliQ9WVL3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000017900.

PTM databases

iPTMnetiQ9WVL3.
PhosphoSitePlusiQ9WVL3.

Proteomic databases

PaxDbiQ9WVL3.
PeptideAtlasiQ9WVL3.
PRIDEiQ9WVL3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000017900; ENSMUSP00000017900; ENSMUSG00000017756. [Q9WVL3-1]
GeneIDi20499.
KEGGimmu:20499.
UCSCiuc007reb.1. mouse. [Q9WVL3-2]
uc007rec.1. mouse. [Q9WVL3-1]

Organism-specific databases

CTDi10723.
MGIiMGI:1342283. Slc12a7.

Phylogenomic databases

eggNOGiKOG2082. Eukaryota.
COG0531. LUCA.
GeneTreeiENSGT00760000119053.
HOGENOMiHOG000092644.
HOVERGENiHBG052852.
InParanoidiQ9WVL3.
KOiK13627.
OMAiLMAWPQS.
OrthoDBiEOG091G0WB4.
PhylomeDBiQ9WVL3.
TreeFamiTF313657.

Enzyme and pathway databases

ReactomeiR-MMU-426117. Cation-coupled Chloride cotransporters.

Miscellaneous databases

PROiQ9WVL3.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000017756.
CleanExiMM_SLC12A7.
ExpressionAtlasiQ9WVL3. baseline and differential.
GenevisibleiQ9WVL3. MM.

Family and domain databases

InterProiIPR004841. AA-permease/SLC12A_dom.
IPR030354. KCC4.
IPR000076. KCL_cotranspt.
IPR018491. SLC12_C.
IPR004842. SLC12A_fam.
[Graphical view]
PANTHERiPTHR11827:SF47. PTHR11827:SF47. 4 hits.
PfamiPF00324. AA_permease. 2 hits.
PF03522. SLC12. 2 hits.
[Graphical view]
PRINTSiPR01081. KCLTRNSPORT.
TIGRFAMsiTIGR00930. 2a30. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiS12A7_MOUSE
AccessioniPrimary (citable) accession number: Q9WVL3
Secondary accession number(s): Q3TB23
, Q3TDX1, Q3UE50, Q6KAS8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 13, 2002
Last sequence update: November 1, 1999
Last modified: November 2, 2016
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.