| Identification |
|---|
| HMDB Protein ID
| HMDBP03070 |
| Secondary Accession Numbers
| |
| Name
| Solute carrier family 12 member 6 |
| Synonyms
|
- Electroneutral potassium-chloride cotransporter 3
- K-Cl cotransporter 3
|
| Gene Name
| SLC12A6 |
| Protein Type
| Transporter |
| Biological Properties |
|---|
| General Function
| Involved in transport |
| Specific Function
| Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells |
| Pathways
|
- Amiloride Action Pathway
- Bendroflumethiazide Action Pathway
- Blue diaper syndrome
- Bumetanide Action Pathway
- Chlorothiazide Action Pathway
- Chlorthalidone Action Pathway
- Cyclothiazide Action Pathway
- Cystinuria
- Eplerenone Action Pathway
- Ethacrynic Acid Action Pathway
- Furosemide Action Pathway
- Glucose Transporter Defect (SGLT2)
- Hartnup Disorder
- Hydrochlorothiazide Action Pathway
- Hydroflumethiazide Action Pathway
- Iminoglycinuria
- Indapamide Action Pathway
- Kidney Function
- Lysinuric Protein Intolerance
- Lysinuric protein intolerance (LPI)
- Methyclothiazide Action Pathway
- Metolazone Action Pathway
- Polythiazide Action Pathway
- Quinethazone Action Pathway
- Spironolactone Action Pathway
- Torsemide Action Pathway
- Triamterene Action Pathway
- Trichlormethiazide Action Pathway
|
| Reactions
| Not Available |
| GO Classification
|
| Component |
| membrane |
| cell part |
| membrane part |
| intrinsic to membrane |
| integral to membrane |
| Function |
| transmembrane transporter activity |
| substrate-specific transmembrane transporter activity |
| ion transmembrane transporter activity |
| transporter activity |
| anion transmembrane transporter activity |
| anion:cation symporter activity |
| cation:chloride symporter activity |
| Process |
| sodium ion transport |
| establishment of localization |
| transport |
| chloride transport |
| transmembrane transport |
| anion transport |
| inorganic anion transport |
| monovalent inorganic cation transport |
| ion transport |
| cation transport |
|
| Cellular Location
|
- Membrane
- Multi-pass membrane protein
|
| Gene Properties |
|---|
| Chromosome Location
| Chromosome:1 |
| Locus
| 15q13 |
| SNPs
| SLC12A6 |
| Gene Sequence
|
>3453 bp
ATGCATCCTCCAGAAACCACCACCAAGATGGCTTCAGTTCGGTTCATGGTGACACCGACA
AAGATCGATGACATTCCAGGTTTGTCAGACACCAGTCCGGACCTCAGCTCTCGATCTAGT
TCCCGAGTAAGATTTAGCTCCCGGGAAAGCGTGCCTGAAACAAGCCGGAGTGAGCCTATG
AGTGAGATGTCTGGGGCCACCACTTCGCTGGCAACTGTTGCACTGGATCCACCCAGTGAC
CGGACTTCTCACCCCCAGGATGTCATCGAGGACCTGAGTCAGAACTCCATCACAGGGGAA
CACAGCCAACTGTTAGACGACGGACATAAGAAAGCTCGAAATGCTTATCTCAATAATTCC
AATTATGAAGAAGGAGATGAATATTTTGATAAAAATTTGGCACTCTTTGAGGAAGAAATG
GACACCAGACCGAAGGTGTCTTCCCTCCTCAACCGCATGGCCAATTACACTAATCTGACT
CAAGGAGCAAAGGAACATGAAGAGGCAGAAAACATCACTGAAGGGAAAAAGAAGCCCACC
AAGACCCCCCAAATGGGTACCTTCATGGGTGTCTACCTCCCATGTCTACAAAATATTTTT
GGAGTGATCCTTTTTTTACGCCTTACATGGGTGGTGGGCACAGCTGGAGTTCTTCAGGCT
TTTGCAATTGTCCTTATCTGCTGCTGCTGTACAATGTTGACTGCTATCTCCATGAGTGCC
ATTGCCACTAATGGAGTGGTGCCAGCTGGGGGCTCATACTTTATGATTTCCCGGGCACTG
GGCCCAGAGTTTGGTGGGGCTGTTGGCCTCTGCTTTTATCTTGGTACCACATTTGCAGCA
GCCATGTACATCCTTGGTGCCATTGAAATCTTTCTGGTCTATATCGTCCCCCGAGCTGCC
ATCTTTCACAGTGATGACGCACTCAAGGAATCAGCAGCCATGCTAAATAACATGCGTGTC
TACGGCACAGCTTTCTTGGTCCTTATGGTATTAGTGGTATTTATCGGCGTACGCTATGTG
AACAAGTTTGCCTCACTTTTCCTGGCCTGTGTCATTGTGTCCATCTTGGCCATCTATGCT
GGAGCCATCAAGTCTTCTTTTGCTCCTCCACACTTCCCGGTCTGCATGCTGGGTAACCGC
ACTCTTTCATCAAGACACATTGACGTTTGCTCTAAGACCAAGGAAATTAACAACATGACA
GTCCCATCAAAGTTATGGGGATTCTTCTGTAACTCGAGTCAATTTTTCAATGCCACCTGT
GATGAATACTTTGTTCACAATAACGTCACTTCAATCCAGGGCATTCCTGGATTGGCTAGT
GGTATAATTACAGAGAATCTTTGGAGTAATTACCTACCCAAGGGAGAGATCATCGAAAAG
CCTTCAGCCAAATCTTCTGATGTCTTAGGCAGCTTAAACCATGAATATGTTCTTGTTGAC
ATCACCACCTCCTTCACGCTTCTGGTGGGAATCTTCTTTCCCTCTGTTACAGGTATCATG
GCTGGATCAAACAGATCTGGAGATCTGAAAGATGCTCAGAAGTCTATTCCGATTGGTACT
ATCCTTGCCATCCTGACCACCTCCTTTGTTTATTTAAGCAATGTTGTCCTTTTTGGTGCA
TGTATTGAAGGGGTTGTTCTCAGAGACAAGTTCGGTGATGCTGTGAAAGGTAATTTGGTG
GTAGGCACCTTATCTTGGCCATCCCCATGGGTGATTGTTATTGGCTCCTTCTTTTCAACA
TGTGGGGCTGGACTTCAGAGCCTCACAGGTGCACCGAGGCTGCTACAAGCTATTGCCAAG
GATAACATCATACCGTTTCTGAGGGTTTTTGGCCACAGCAAAGCCAATGGGGAACCTACC
TGGGCTTTACTTCTAACTGCTGCCATTGCAGAGCTTGGAATACTCATTGCCTCCCTGGAT
CTTGTGGCCCCAATTCTTTCCATGTTTTTTCTCATGTGTTACCTCTTTGTAAACTTGGCA
TGTGCCTTGCAAACATTACTTCGAACACCCAACTGGAGACCCCGATTCCGCTACTACCAT
TGGGCCCTTTCTTTCATGGGAATGAGTATCTGTCTGGCTCTGATGTTCATTTCTTCCTGG
TATTATGCCATTGTAGCCATGGTAATAGCTGGTATGATCTACAAGTACATTGAATACCAA
GGAGCTGAGAAAGAATGGGGTGATGGTATCCGTGGGCTGTCCCTCAGTGCAGCCCGGTTT
GCTTTGCTTCGATTGGAGGAAGGACCTCCACACACTAAAAACTGGAGGCCTCAGTTGCTT
GTATTACTGAAACTAGATGAAGACTTACATGTCAAGCATCCTCGCCTCCTCACCTTTGCC
TCACAGCTCAAAGCAGGAAAAGGTCTCACTATTGTGGGCTCTGTCATCGTGGGGAACTTC
CTAGAGAACTACGGTGAAGCTTTAGCTGCTGAGCAGACCATAAAGCACCTAATGGAGGCA
GAGAAGGTAAAAGGATTCTGCCAGCTGGTGGTGGCCGCCAAGCTGAGAGAGGGCATTTCC
CACCTCATCCAGTCATGTGGCCTTGGGGGCATGAAGCACAACACGGTGGTGATGGGCTGG
CCTAATGGCTGGCGTCAAAGCGAAGATGCCCGCGCTTGGAAGACTTTTATTGGCACAGTT
CGAGTGACAACTGCTGCCCATCTTGCACTGCTGGTGGCTAAAAACATCTCCTTCTTTCCC
AGCAATGTGGAGCAATTTTCTGAGGGCAACATTGATGTGTGGTGGATTGTGCATGATGGG
GGGATGCTTATGCTACTACCATTCCTACTGAAACAGCACAAGGTGTGGCGAAAGTGCAGC
ATACGGATCTTCACAGTAGCCCAATTAGAAGACAACAGTATCCAAATGAAGAAGGACCTA
GCCACCTTCCTATATCACTTACGCATTGAGGCGGAGGTAGAAGTGGTGGAGATGCATGAC
AGTGATATATCAGCATATACTTACGAGCGCACTTTGATGATGGAACAAAGGTCCCAGATG
CTTCGGCACATGCGGCTATCCAAAACAGAGCGAGACAGAGAGGCACAATTGGTGAAAGAC
CGAAACTCAATGCTACGATTGACCAGCATTGGCTCTGATGAGGACGAAGAGACAGAAACC
TATCAGGAGAAGGTGCACATGACTTGGACAAAAGACAAGTACATGGCATCCCGGGGACAA
AAAGCGAAGTCAATGGAAGGATTCCAGGACCTGCTTAACATGCGTCCGGACCAGTCCAAT
GTGAGGCGGATGCATACAGCAGTGAAACTCAACGAGGTTATAGTTAACAAGTCCCATGAA
GCAAAGCTGGTTTTATTGAATATGCCAGGGCCACCCCGAAACCCTGAGGGTGATGAAAAC
TACATGGAGTTCCTAGAGGTGCTTACCGAGGGACTAGAGCGAGTCCTACTTGTCCGGGGT
GGTGGCAGTGAAGTGATCACCATTTATTCATAA
|
| Protein Properties |
|---|
| Number of Residues
| 1150 |
| Molecular Weight
| 127615.7 |
| Theoretical pI
| 7.08 |
| Pfam Domain Function
|
|
| Signals
|
|
|
Transmembrane Regions
|
- 186-206
- 208-228
- 236-256
- 277-297
- 320-340
- 343-363
- 481-501
- 518-538
- 559-579
- 632-652
- 690-710
- 910-930
|
| Protein Sequence
|
>Solute carrier family 12 member 6
MHPPETTTKMASVRFMVTPTKIDDIPGLSDTSPDLSSRSSSRVRFSSRESVPETSRSEPM
SEMSGATTSLATVALDPPSDRTSHPQDVIEDLSQNSITGEHSQLLDDGHKKARNAYLNNS
NYEEGDEYFDKNLALFEEEMDTRPKVSSLLNRMANYTNLTQGAKEHEEAENITEGKKKPT
KTPQMGTFMGVYLPCLQNIFGVILFLRLTWVVGTAGVLQAFAIVLICCCCTMLTAISMSA
IATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAAAMYILGAIEIFLVYIVPRAA
IFHSDDALKESAAMLNNMRVYGTAFLVLMVLVVFIGVRYVNKFASLFLACVIVSILAIYA
GAIKSSFAPPHFPVCMLGNRTLSSRHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATC
DEYFVHNNVTSIQGIPGLASGIITENLWSNYLPKGEIIEKPSAKSSDVLGSLNHEYVLVD
ITTSFTLLVGIFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGA
CIEGVVLRDKFGDAVKGNLVVGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAK
DNIIPFLRVFGHSKANGEPTWALLLTAAIAELGILIASLDLVAPILSMFFLMCYLFVNLA
CALQTLLRTPNWRPRFRYYHWALSFMGMSICLALMFISSWYYAIVAMVIAGMIYKYIEYQ
GAEKEWGDGIRGLSLSAARFALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKHPRLLTFA
SQLKAGKGLTIVGSVIVGNFLENYGEALAAEQTIKHLMEAEKVKGFCQLVVAAKLREGIS
HLIQSCGLGGMKHNTVVMGWPNGWRQSEDARAWKTFIGTVRVTTAAHLALLVAKNISFFP
SNVEQFSEGNIDVWWIVHDGGMLMLLPFLLKQHKVWRKCSIRIFTVAQLEDNSIQMKKDL
ATFLYHLRIEAEVEVVEMHDSDISAYTYERTLMMEQRSQMLRHMRLSKTERDREAQLVKD
RNSMLRLTSIGSDEDEETETYQEKVHMTWTKDKYMASRGQKAKSMEGFQDLLNMRPDQSN
VRRMHTAVKLNEVIVNKSHEAKLVLLNMPGPPRNPEGDENYMEFLEVLTEGLERVLLVRG
GGSEVITIYS
|
| External Links |
|---|
| GenBank ID Protein
| 5106523 |
| UniProtKB/Swiss-Prot ID
| Q9UHW9 |
| UniProtKB/Swiss-Prot Entry Name
| S12A6_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| AF105366 |
| GeneCard ID
| SLC12A6 |
| GenAtlas ID
| SLC12A6 |
| HGNC ID
| HGNC:10914 |
| References |
|---|
| General References
| - Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. [PubMed:18669648 ]
- Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. doi: 10.1126/scisignal.2000007. [PubMed:19690332 ]
- Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed:17974005 ]
- Casula S, Shmukler BE, Wilhelm S, Stuart-Tilley AK, Su W, Chernova MN, Brugnara C, Alper SL: A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity. J Biol Chem. 2001 Nov 9;276(45):41870-8. Epub 2001 Sep 10. [PubMed:11551954 ]
- Race JE, Makhlouf FN, Logue PJ, Wilson FH, Dunham PB, Holtzman EJ: Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter. Am J Physiol. 1999 Dec;277(6 Pt 1):C1210-9. [PubMed:10600773 ]
- Hiki K, D'Andrea RJ, Furze J, Crawford J, Woollatt E, Sutherland GR, Vadas MA, Gamble JR: Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter. J Biol Chem. 1999 Apr 9;274(15):10661-7. [PubMed:10187864 ]
- Mount DB, Mercado A, Song L, Xu J, George AL Jr, Delpire E, Gamba G: Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. J Biol Chem. 1999 Jun 4;274(23):16355-62. [PubMed:10347194 ]
- Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA: The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet. 2002 Nov;32(3):384-92. Epub 2002 Oct 7. [PubMed:12368912 ]
|
