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Q9UHW9

- S12A6_HUMAN

UniProt

Q9UHW9 - S12A6_HUMAN

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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

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
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.30.5.3. 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
Complete GO annotation...

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

BgeeiQ9UHW9.
CleanExiHS_SLC12A6.
ExpressionAtlasiQ9UHW9. baseline and differential.
GenevestigatoriQ9UHW9.

Organism-specific databases

HPAiHPA034563.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi115311. 7 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.
GeneTreeiENSGT00760000119053.
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) [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

        10         20         30         40         50
MHPPETTTKM ASVRFMVTPT KIDDIPGLSD TSPDLSSRSS SRVRFSSRES
60 70 80 90 100
VPETSRSEPM SEMSGATTSL ATVALDPPSD RTSHPQDVIE DLSQNSITGE
110 120 130 140 150
HSQLLDDGHK KARNAYLNNS NYEEGDEYFD KNLALFEEEM DTRPKVSSLL
160 170 180 190 200
NRMANYTNLT QGAKEHEEAE NITEGKKKPT KTPQMGTFMG VYLPCLQNIF
210 220 230 240 250
GVILFLRLTW VVGTAGVLQA FAIVLICCCC TMLTAISMSA IATNGVVPAG
260 270 280 290 300
GSYFMISRAL GPEFGGAVGL CFYLGTTFAA AMYILGAIEI FLVYIVPRAA
310 320 330 340 350
IFHSDDALKE SAAMLNNMRV YGTAFLVLMV LVVFIGVRYV NKFASLFLAC
360 370 380 390 400
VIVSILAIYA GAIKSSFAPP HFPVCMLGNR TLSSRHIDVC SKTKEINNMT
410 420 430 440 450
VPSKLWGFFC NSSQFFNATC DEYFVHNNVT SIQGIPGLAS GIITENLWSN
460 470 480 490 500
YLPKGEIIEK PSAKSSDVLG SLNHEYVLVD ITTSFTLLVG IFFPSVTGIM
510 520 530 540 550
AGSNRSGDLK DAQKSIPIGT ILAILTTSFV YLSNVVLFGA CIEGVVLRDK
560 570 580 590 600
FGDAVKGNLV VGTLSWPSPW VIVIGSFFST CGAGLQSLTG APRLLQAIAK
610 620 630 640 650
DNIIPFLRVF GHSKANGEPT WALLLTAAIA ELGILIASLD LVAPILSMFF
660 670 680 690 700
LMCYLFVNLA CALQTLLRTP NWRPRFRYYH WALSFMGMSI CLALMFISSW
710 720 730 740 750
YYAIVAMVIA GMIYKYIEYQ GAEKEWGDGI RGLSLSAARF ALLRLEEGPP
760 770 780 790 800
HTKNWRPQLL VLLKLDEDLH VKHPRLLTFA SQLKAGKGLT IVGSVIVGNF
810 820 830 840 850
LENYGEALAA EQTIKHLMEA EKVKGFCQLV VAAKLREGIS HLIQSCGLGG
860 870 880 890 900
MKHNTVVMGW PNGWRQSEDA RAWKTFIGTV RVTTAAHLAL LVAKNISFFP
910 920 930 940 950
SNVEQFSEGN IDVWWIVHDG GMLMLLPFLL KQHKVWRKCS IRIFTVAQLE
960 970 980 990 1000
DNSIQMKKDL ATFLYHLRIE AEVEVVEMHD SDISAYTYER TLMMEQRSQM
1010 1020 1030 1040 1050
LRHMRLSKTE RDREAQLVKD RNSMLRLTSI GSDEDEETET YQEKVHMTWT
1060 1070 1080 1090 1100
KDKYMASRGQ KAKSMEGFQD LLNMRPDQSN VRRMHTAVKL NEVIVNKSHE
1110 1120 1130 1140 1150
AKLVLLNMPG PPRNPEGDEN YMEFLEVLTE GLERVLLVRG GGSEVITIYS
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. 7 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.
GeneTreei ENSGT00760000119053.
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

Bgeei Q9UHW9.
CleanExi HS_SLC12A6.
ExpressionAtlasi Q9UHW9. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 143 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