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Q9UHW9 (S12A6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 138. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Solute carrier family 12 member 6
Alternative name(s):
Electroneutral potassium-chloride cotransporter 3
K-Cl cotransporter 3
Gene names
Name:SLC12A6
Synonyms:KCC3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1150 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells.

Enzyme regulation

Activated by N-ethylmaleimide (NEM). Inhibited by DIOA, bumetanide and furosemide. Inhibited by WNK3. Ref.15

Subunit structure

Homomultimer and heteromultimer with other K-Cl cotransporters By similarity. Ref.12

Subcellular location

Basolateral cell membrane; Multi-pass membrane protein By similarity.

Tissue specificity

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). Ref.5

Induction

Up-regulated by VEGF. Down-regulated by TNF. Ref.2 Ref.15

Post-translational modification

N-glycosylated. Ref.2 Ref.4

Involvement in disease

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. Ref.4

Sequence similarities

Belongs to the SLC12A transporter family.

Biophysicochemical properties

Kinetic parameters:

KM=10.7 mM for extracellular Rb+ (isoform 1) Ref.5

KM=7.3 mM for extracellular Cl- (isoform 1)

KM=17.2 mM for extracellular Rb+ (isoform 2)

KM=8.2 mM for extracellular Cl- (isoform 2)

Alternative products

This entry describes 6 isoforms produced by alternative promoter usage and alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UHW9-1)

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.
Isoform 2 (identifier: Q9UHW9-2)

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.
Isoform 3 (identifier: Q9UHW9-3)

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.
Isoform 4 (identifier: Q9UHW9-4)

Also known as: KCC3a-S3;

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: Missing.
Isoform 5 (identifier: Q9UHW9-5)

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.
Isoform 6 (identifier: Q9UHW9-6)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11501150Solute carrier family 12 member 6
PRO_0000178037

Regions

Topological domain1 – 185185Cytoplasmic Potential
Transmembrane186 – 20823Helical; Potential
Topological domain209 – 22315Extracellular Potential
Transmembrane224 – 24522Helical; Potential
Topological domain246 – 27126Cytoplasmic Potential
Transmembrane272 – 29524Helical; Potential
Topological domain296 – 31823Extracellular Potential
Transmembrane319 – 34325Helical; Potential
Topological domain344 – 3463Cytoplasmic Potential
Transmembrane347 – 37125Helical; Potential
Topological domain372 – 479108Extracellular Potential
Transmembrane480 – 50122Helical; Potential
Topological domain502 – 51514Cytoplasmic Potential
Transmembrane516 – 54328Helical; Potential
Topological domain544 – 55714Extracellular Potential
Transmembrane558 – 58124Helical; Potential
Topological domain582 – 62039Cytoplasmic Potential
Transmembrane621 – 64424Helical; Potential
Topological domain645 – 6473Extracellular Potential
Transmembrane648 – 67023Helical; Potential
Topological domain671 – 6766Cytoplasmic Potential
Transmembrane677 – 69519Helical; Potential
Topological domain6961Extracellular Potential
Transmembrane697 – 71923Helical; Potential
Topological domain720 – 1150431Cytoplasmic Potential
Compositional bias227 – 2304Poly-Cys

Amino acid modifications

Modified residue321Phosphoserine Ref.14
Modified residue10321Phosphoserine Ref.13 Ref.16
Glycosylation3791N-linked (GlcNAc...) Potential
Glycosylation3981N-linked (GlcNAc...) Potential
Glycosylation4111N-linked (GlcNAc...) Potential
Glycosylation4281N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 5959Missing in isoform 5.
VSP_041387
Alternative sequence1 – 5151Missing in isoform 2 and isoform 6.
VSP_006115
Alternative sequence1 – 99Missing in isoform 4.
VSP_041388
Alternative sequence52 – 9039PETSR…QDVIE → MPHFTVTKVEDPEEGAAASI SQEPSLADIKARIQDSDEP in isoform 2 and isoform 6.
VSP_006116
Alternative sequence91 – 10515Missing in isoform 3 and isoform 6.
VSP_041389
Natural variant4151F → S.
Corresponds to variant rs2705339 [ dbSNP | Ensembl ].
VAR_014960

Experimental info

Sequence conflict8021E → H in AAF24986. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (KCC3a) [UniParc].

Last modified December 13, 2002. Version 2.
Checksum: F8BDD39181294EDD

FASTA1,150127,617
        10         20         30         40         50         60 
MHPPETTTKM ASVRFMVTPT KIDDIPGLSD TSPDLSSRSS SRVRFSSRES VPETSRSEPM 

        70         80         90        100        110        120 
SEMSGATTSL ATVALDPPSD RTSHPQDVIE DLSQNSITGE HSQLLDDGHK KARNAYLNNS 

       130        140        150        160        170        180 
NYEEGDEYFD KNLALFEEEM DTRPKVSSLL NRMANYTNLT QGAKEHEEAE NITEGKKKPT 

       190        200        210        220        230        240 
KTPQMGTFMG VYLPCLQNIF GVILFLRLTW VVGTAGVLQA FAIVLICCCC TMLTAISMSA 

       250        260        270        280        290        300 
IATNGVVPAG GSYFMISRAL GPEFGGAVGL CFYLGTTFAA AMYILGAIEI FLVYIVPRAA 

       310        320        330        340        350        360 
IFHSDDALKE SAAMLNNMRV YGTAFLVLMV LVVFIGVRYV NKFASLFLAC VIVSILAIYA 

       370        380        390        400        410        420 
GAIKSSFAPP HFPVCMLGNR TLSSRHIDVC SKTKEINNMT VPSKLWGFFC NSSQFFNATC 

       430        440        450        460        470        480 
DEYFVHNNVT SIQGIPGLAS GIITENLWSN YLPKGEIIEK PSAKSSDVLG SLNHEYVLVD 

       490        500        510        520        530        540 
ITTSFTLLVG IFFPSVTGIM AGSNRSGDLK DAQKSIPIGT ILAILTTSFV YLSNVVLFGA 

       550        560        570        580        590        600 
CIEGVVLRDK FGDAVKGNLV VGTLSWPSPW VIVIGSFFST CGAGLQSLTG APRLLQAIAK 

       610        620        630        640        650        660 
DNIIPFLRVF GHSKANGEPT WALLLTAAIA ELGILIASLD LVAPILSMFF LMCYLFVNLA 

       670        680        690        700        710        720 
CALQTLLRTP NWRPRFRYYH WALSFMGMSI CLALMFISSW YYAIVAMVIA GMIYKYIEYQ 

       730        740        750        760        770        780 
GAEKEWGDGI RGLSLSAARF ALLRLEEGPP HTKNWRPQLL VLLKLDEDLH VKHPRLLTFA 

       790        800        810        820        830        840 
SQLKAGKGLT IVGSVIVGNF LENYGEALAA EQTIKHLMEA EKVKGFCQLV VAAKLREGIS 

       850        860        870        880        890        900 
HLIQSCGLGG MKHNTVVMGW PNGWRQSEDA RAWKTFIGTV RVTTAAHLAL LVAKNISFFP 

       910        920        930        940        950        960 
SNVEQFSEGN IDVWWIVHDG GMLMLLPFLL KQHKVWRKCS IRIFTVAQLE DNSIQMKKDL 

       970        980        990       1000       1010       1020 
ATFLYHLRIE AEVEVVEMHD SDISAYTYER TLMMEQRSQM LRHMRLSKTE RDREAQLVKD 

      1030       1040       1050       1060       1070       1080 
RNSMLRLTSI GSDEDEETET YQEKVHMTWT KDKYMASRGQ KAKSMEGFQD LLNMRPDQSN 

      1090       1100       1110       1120       1130       1140 
VRRMHTAVKL NEVIVNKSHE AKLVLLNMPG PPRNPEGDEN YMEFLEVLTE GLERVLLVRG 

      1150 
GGSEVITIYS 

« Hide

Isoform 2 (KCC3b) [UniParc].

Checksum: 1C9D8FE2A060E0DC
Show »

FASTA1,099122,091
Isoform 3 (KCC3a-X2M) [UniParc].

Checksum: ED4C3E7101CB0378
Show »

FASTA1,135125,993
Isoform 4 (KCC3a-S3) [UniParc].

Checksum: 1B71C660733649AF
Show »

FASTA1,141126,594
Isoform 5 (KCC3a-S) (KCC3a-S1) (KCC3a-S2) [UniParc].

Checksum: CFF92252688CAC1A
Show »

FASTA1,091121,125
Isoform 6 (KCC3b-X2M) [UniParc].

Checksum: 1A8328CEC2EC3E54
Show »

FASTA1,084120,467

References

« Hide 'large scale' references
[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]"The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum."
Howard H.C., Mount D.B., Rochefort D., Byun N., Dupre N., Lu J., Fan X., Song L., Riviere J.-B., Prevost C., Horst J., Simonati A., Lemcke B., Welch R., England R., Zhan F.Q., Mercado A., Siesser W.B. expand/collapse author list , George A.L. Jr., McDonald M.P., Bouchard J.-P., Mathieu J., Delpire E., Rouleau G.A.
Nat. Genet. 32:384-392(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), GLYCOSYLATION, DISEASE.
[5]"NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter."
Mercado A., Vazquez N., Song L., Cortes R., Enck A.H., Welch R., Delpire E., Gamba G., Mount D.B.
Am. J. Physiol. 289:F1246-1261(2005) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Similar Effects of all WNK3 Variants upon SLC12 Cotransporters."
Cruz-Rangel S., Melo Z., Vazquez N., Meade P., Bobadilla N.A., Pasantes-Morales H., Gamba G., Mercado A.
Am. J. Physiol. 301:C601-C608(2011) [PubMed] [Europe PMC] [Abstract]
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].
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF116242 mRNA. Translation: AAF24986.1.
AF108831 mRNA. Translation: AAD25337.1.
AF105366 mRNA. Translation: AAD39742.1.
AF314956 expand/collapse EMBL AC list , 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 expand/collapse EMBL AC list , 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.
PIRT17275.
RefSeqNP_001035959.1. NM_001042494.1.
NP_001035960.1. NM_001042495.1.
NP_001035961.1. NM_001042496.1.
NP_001035962.1. NM_001042497.1.
NP_005126.1. NM_005135.2.
NP_598408.1. NM_133647.1.
UniGeneHs.510939.

3D structure databases

ProteinModelPortalQ9UHW9.
SMRQ9UHW9. Positions 469-660.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115311. 2 interactions.
IntActQ9UHW9. 2 interactions.
STRING9606.ENSP00000346112.

Chemistry

DrugBankDB00761. Potassium Chloride.
GuidetoPHARMACOLOGY973.

Protein family/group databases

TCDB2.A.30.5.3. the cation-chloride cotransporter (ccc) family.

PTM databases

PhosphoSiteQ9UHW9.

Polymorphism databases

DMDM27151690.

Proteomic databases

PaxDbQ9UHW9.
PRIDEQ9UHW9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000290209; 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]
GeneID9990.
KEGGhsa:9990.
UCSCuc001zhv.3. human. [Q9UHW9-2]
uc001zhw.3. human. [Q9UHW9-1]
uc001zhx.3. human. [Q9UHW9-3]

Organism-specific databases

CTD9990.
GeneCardsGC15M034522.
HGNCHGNC:10914. SLC12A6.
HPAHPA034563.
MIM218000. phenotype.
604878. gene.
neXtProtNX_Q9UHW9.
Orphanet1496. Corpus callosum agenesis - neuronopathy.
PharmGKBPA35808.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0531.
HOGENOMHOG000092644.
HOVERGENHBG052852.
InParanoidQ9UHW9.
KOK14427.
OMANNMTVPS.
OrthoDBEOG78M01J.
PhylomeDBQ9UHW9.
TreeFamTF313657.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9UHW9.
BgeeQ9UHW9.
CleanExHS_SLC12A6.
GenevestigatorQ9UHW9.

Family and domain databases

InterProIPR004841. AA-permease/SLC12A_dom.
IPR018491. K/Cl_cotranspt_1/3.
IPR000076. KCL_cotranspt.
IPR004842. Na/K/Cl_cotransptS.
[Graphical view]
PfamPF00324. AA_permease. 2 hits.
PF03522. KCl_Cotrans_1. 1 hit.
[Graphical view]
PRINTSPR01081. KCLTRNSPORT.
TIGRFAMsTIGR00930. 2a30. 1 hit.
ProtoNetSearch...

Other

ChiTaRSSLC12A6. human.
GeneWikiSLC12A6.
GenomeRNAi9990.
NextBio37729.
PROQ9UHW9.
SOURCESearch...

Entry information

Entry nameS12A6_HUMAN
AccessionPrimary (citable) accession number: Q9UHW9
Secondary accession number(s): A0AV76 expand/collapse secondary AC list , Q2VI00, Q7Z2E7, Q7Z4G5, Q8TDD4, Q9UFR2, Q9Y642, Q9Y665
Entry history
Integrated into UniProtKB/Swiss-Prot: December 13, 2002
Last sequence update: December 13, 2002
Last modified: April 16, 2014
This is version 138 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM