Slc12a6
entrez
107723
canonical
uniprot
Q924N4
canonical
ensembl
ENSMUSG00000027130
resolver
ensp
ENSMUSP00000028549
resolver
ensp
ENSMUSP00000051490
resolver
ensp
ENSMUSP00000106619
resolver
ensp
ENSMUSP00000201281
resolver
enst
ENSMUST00000110991
resolver
genesymbol
Slc12a6
resolver
genesymbol_syn
Kcc3
resolver
uniprot
A2AGK1
resolver
uniprot
F6USV1
resolver
uniprot
Q3V0N8
resolver
uniprot
Q924N3
resolver
uniprot_entry
F6USV1_MOUSE
resolver
uniprot_entry
Q3V0N8_MOUSE
resolver
uniprot_entry
S12A6_MOUSE
resolver
uniprot_sec
A2AGK1
resolver
uniprot_sec
Q924N3
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited following phosphorylation by OXSR1/OSR1 and STK39/SPAK: phosphorylation takes place downstream of WNK kinases (WNK1, WNK2, WNK3 or WNK4) in response to hyperosmotic stress and subsequent cell shrinkage. {ECO:0000250|UniProtKB:Q9UHW9}.
uniprot
proteins
amino_acid_sequence
MHPPEATTKMSSVRFMVTPTKIDDIPGLSDTSPDLSSRSSSRVRFSSRESVPETSRSEPMSELSGATTSLATVALDPSSDRTSNPQDVTEDPSQNSITGEHSQLLDDGHKKARNAYLNNSNYEEGDEYFDKNLALFEEEMDTRPKVSSLLNRMANYTNLTQGAKEHEEAENITEGKKKPTKSPQMGTFMGVYLPCLQNIFGVILFLRLTWVVGTAGILQAFAIVLICCCCTMLTAISMSAIATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAAAMYILGAIEIFLVYIVPRAAIFRSDDALKESAAMLNNMRVYGTAFLVLMVLVVFIGVRYVNKFASLFLACVIVSILAIYAGAIKSSFAPPHFPVCMLGNRTLSSRHLDICSKTKEVDNMTVPSKLWGFFCNSSQFFNATCDEYFVHNNVISIQGIPGLASGIITENLWSNYLPKGEIIEKPSAKSSDVLGNLNHEYVLADITTSFTLLVGIFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGACIEGVVLRDKFGDAVKGNLVVGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHSKANGEPTWALLLTAAIAELGILIASLDLVAPILSMFFLMCYLFVNLACALQTLLRTPNWRPRFRYYHWALSFMGMSICLALMFISSWYYAIVAMVIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARFALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKHPRLLTFASQLKAGKGLTIVGSVIVGNFLENYGDALAAEQTIKHLMEAEKVKGFCQLVVAAKLKEGISHLIQSCGLGGMKHNTVVMGWPNGWRQSEDARAWKTFIGTVRVTTAAHLALLVAKNVSFFPSNVEQFSEGNIDVWWIVHDGGMLMLLPFLLKQHKVWRKCSIRIFTVAQLEDNSIQMKKDLATFLYHLRIEAEVEVVEMHDSDISAYTYERTLMMEQRSQMLRHMRLSKTERDREAQLVKDRNSMLRLTSIGSDEDEETETYQEKVHMTWTKDKYMASRGQKVKSMEGFQDLLNMRPDQSNVRRMHTAVKLNEVIVNKSHEAKLVLLNMPGPPRNPEGDENYMEFLEVLTEGLERVLLVRGGGSEVITIYS
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Slc12a6 are a cause of locomotor abnormalities beginning at 2 weeks of age. Slc12a6 deficient mice show hypomyelination, decompaction of myelin, demyelination, axonal swelling and fiber degeneration. {ECO:0000269|PubMed:12368912}.
uniprot
proteins
function
FUNCTION: [Isoform 1]: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:10347194, PubMed:31649201). May contribute to cell volume homeostasis in single cells (Probable). {ECO:0000269|PubMed:10347194, ECO:0000269|PubMed:31649201, ECO:0000305}.; FUNCTION: [Isoform 2]: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (By similarity). May contribute to cell volume homeostasis in single cells (By similarity). {ECO:0000250|UniProtKB:Q9UHW9}.
uniprot
proteins
mass_dalton
127527
uniprot
proteins
mutagenesis
MUTAGEN 207; /note="R->C: Loss of potassium-chloride cotransport activity in Xenopus laevis oocytes."; /evidence="ECO:0000269|PubMed:31439721"; MUTAGEN 207; /note="R->H: Loss of potassium-chloride cotransport activity in Xenopus laevis oocytes."; /evidence="ECO:0000269|PubMed:31439721"; MUTAGEN 283; /note="Y->A,F: Abolished potassium-chloride cotransport."; /evidence="ECO:0000269|PubMed:31649201"; MUTAGEN 495; /note="S->A: Reduced potassium-chloride cotransport."; /evidence="ECO:0000269|PubMed:31649201"; MUTAGEN 497; /note="T->A: Abolished potassium-chloride cotransport."; /evidence="ECO:0000269|PubMed:31649201"; MUTAGEN 654; /note="Y->A,F: Abolished potassium-chloride cotransport."; /evidence="ECO:0000269|PubMed:31649201"; MUTAGEN 679; /note="Y->C: Reduced potassium-chloride cotransport activity in Xenopus laevis oocytes."; /evidence="ECO:0000269|PubMed:31439721"; MUTAGEN 991; /note="T->A: Constitutively enhanced potassium-chloride cotransport activity. Significant locomotor deficits."; /evidence="ECO:0000269|PubMed:27485015
uniprot
proteins
post_translational_modification
PTM: Phosphorylated, phosphorylation regulates transporter activity. Phosphorylated at Thr-991 and Thr-1048 by OXSR1/OSR1 and STK39/SPAK downstream of WNK kinases (WNK1, WNK2, WNK3 or WNK4), inhibiting the potassium-chloride cotransport activity. {ECO:0000250|UniProtKB:Q9UHW9}.; PTM: N-glycosylated. {ECO:0000269|PubMed:11246162}.
uniprot
proteins
protein_family
K/Cl co-transporter subfamily
uniprot
proteins
protein_family
SLC12A transporter family
uniprot
proteins
pubmed
10347194
uniprot
proteins
pubmed
11246162
uniprot
proteins
pubmed
12368912
uniprot
proteins
pubmed
16048901
uniprot
proteins
pubmed
18566107
uniprot
proteins
pubmed
19144319
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
27485015
uniprot
proteins
pubmed
31439721
uniprot
proteins
pubmed
31649201
uniprot
proteins
sequence_length
1150
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9UHW9}. Basolateral cell membrane {ECO:0000269|PubMed:16048901}; Multi-pass membrane protein {ECO:0000269|PubMed:16048901}.
uniprot
proteins
transmembrane_region
TRANSMEM 136..158; /note="Discontinuously helical; Name=1"; /evidence="ECO:0000250|UniProtKB:Q9UHW9"; TRANSMEM 166..188; /note="Helical; Name=2"; /evidence="ECO:0000250|UniProtKB:Q9UHW9"; TRANSMEM 212..245; /note="Helical; Name=3"; /evidence="ECO:0000250|UniProtKB:Q9UHW9"; TRANSMEM 264..287; /note="Helical; Name=4"; /evidence="ECO:0000250|UniProtKB:Q9UHW9"; TRANSMEM 288..316; /note="Helical; Name=5"; /evidence="ECO:0000250|UniProtKB:Q9UHW9"; TRANSMEM 434..454; /note="Helical; Name=6"; /evidence="ECO:0000250|UniProtKB:Q9UHW9"; TRANSMEM 465..487; /note="Helical; Name=7"; /evidence="ECO:0000250|UniProtKB:Q9UHW9"; TRANSMEM 519..545; /note="Helical; Name=8"; /evidence="ECO:0000250|UniProtKB:Q9UHW9"; TRANSMEM 569..589; /note="Helical; Name=9"; /evidence="ECO:0000250|UniProtKB:Q9UHW9"; TRANSMEM 590..612; /note="Helical; Name=10"; /evidence="ECO:0000250|UniProtKB:Q9UHW9"; TRANSMEM 630..649; /note="Helical; Name=11"; /evidence="ECO:0000250|UniProtKB:Q9UHW9"; TRANSMEM 650..665; /note="Helical; Name=12"; /evidence="ECO:0000250|UniProtKB:Q9UHW9
uniprot
proteins