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Protein

Solute carrier family 12 member 3

Gene

SLC12A3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption (PubMed:21613606, PubMed:22009145). Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1 (By similarity).By similarity2 Publications

Enzyme regulationi

Activated by WNK3.1 Publication

GO - Molecular functioni

GO - Biological processi

  • ion transport Source: Reactome
  • sodium ion transmembrane transport Source: BHF-UCL
  • sodium ion transport Source: UniProtKB
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Ion transport, Sodium transport, Symport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiR-HSA-426117. Cation-coupled Chloride cotransporters.
R-HSA-5619087. Defective SLC12A3 causes Gitelman syndrome (GS).
SIGNORiP55017.

Protein family/group databases

TCDBi2.A.30.4.2. the cation-chloride cotransporter (ccc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 12 member 3
Alternative name(s):
Na-Cl cotransporter
Short name:
NCC
Na-Cl symporter
Thiazide-sensitive sodium-chloride cotransporter
Gene namesi
Name:SLC12A3
Synonyms:NCC, TSC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:10912. SLC12A3.

Subcellular locationi

  • Cell membrane 1 Publication; Multi-pass membrane protein

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 135135CytoplasmicSequence analysisAdd
BLAST
Transmembranei136 – 15621HelicalSequence analysisAdd
BLAST
Transmembranei159 – 17921HelicalSequence analysisAdd
BLAST
Topological domaini180 – 21839CytoplasmicSequence analysisAdd
BLAST
Transmembranei219 – 23921HelicalSequence analysisAdd
BLAST
Transmembranei262 – 28221HelicalSequence analysisAdd
BLAST
Topological domaini283 – 2864CytoplasmicSequence analysis
Transmembranei287 – 30721HelicalSequence analysisAdd
BLAST
Transmembranei340 – 36021HelicalSequence analysisAdd
BLAST
Topological domaini361 – 37717CytoplasmicSequence analysisAdd
BLAST
Transmembranei378 – 39821HelicalSequence analysisAdd
BLAST
Transmembranei453 – 47321HelicalSequence analysisAdd
BLAST
Topological domaini474 – 51138CytoplasmicSequence analysisAdd
BLAST
Transmembranei512 – 53221HelicalSequence analysisAdd
BLAST
Transmembranei535 – 55521HelicalSequence analysisAdd
BLAST
Topological domaini556 – 57722CytoplasmicSequence analysisAdd
BLAST
Transmembranei578 – 59821HelicalSequence analysisAdd
BLAST
Transmembranei661 – 68121HelicalSequence analysisAdd
BLAST
Topological domaini682 – 1021340CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • cytosol Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • membrane Source: ProtInc
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Gitelman syndrome (GS)16 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. It has overlapping features with Bartter syndrome.
See also OMIM:263800
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601T → M in GS. 2 Publications
Corresponds to variant rs371443644 [ dbSNP | Ensembl ].
VAR_039475
Natural varianti62 – 621D → H in GS. 1 Publication
VAR_075931
Natural varianti62 – 621D → N in GS. 1 Publication
VAR_039476
Natural varianti68 – 681E → K in GS. 1 Publication
Corresponds to variant rs763210286 [ dbSNP | Ensembl ].
VAR_039477
Natural varianti69 – 691H → N in GS. 1 Publication
Corresponds to variant rs780502516 [ dbSNP | Ensembl ].
VAR_039478
Natural varianti83 – 831R → Q in GS. 1 Publication
VAR_075932
Natural varianti83 – 831R → W in GS. 1 Publication
VAR_075933
Natural varianti90 – 901H → Y in GS. 1 Publication
VAR_039479
Natural varianti121 – 1211E → D in GS; 27% residual Na(+) uptake activity; increased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; no effect on localization at the plasma membrane. 2 Publications
VAR_075934
Natural varianti135 – 1351R → C in GS. 1 Publication
VAR_075935
Natural varianti145 – 1451R → C in GS. 1 Publication
VAR_075936
Natural varianti145 – 1451R → H in GS. 1 Publication
Corresponds to variant rs374324018 [ dbSNP | Ensembl ].
VAR_039480
Natural varianti150 – 1501I → M in GS. 1 Publication
VAR_075937
Natural varianti153 – 1531V → M in GS. 2 Publications
Corresponds to variant rs779074538 [ dbSNP | Ensembl ].
VAR_039481
Natural varianti154 – 1541I → F in GS. 1 Publication
Corresponds to variant rs748547209 [ dbSNP | Ensembl ].
VAR_039482
Natural varianti157 – 1571L → P in GS. 1 Publication
VAR_075938
Natural varianti158 – 1581R → L in GS. 1 Publication
VAR_075939
Natural varianti158 – 1581R → Q in GS. 1 Publication
VAR_039483
Natural varianti163 – 1631T → M in GS. 2 Publications
Corresponds to variant rs267607050 [ dbSNP | Ensembl ].
VAR_039484
Natural varianti166 – 1661A → V in GS. 1 Publication
VAR_075940
Natural varianti172 – 1721W → R in GS. 2 Publications
Corresponds to variant rs757792232 [ dbSNP | Ensembl ].
VAR_039485
Natural varianti178 – 1781S → L in GS. 2 Publications
Corresponds to variant rs772589653 [ dbSNP | Ensembl ].
VAR_039486
Natural varianti180 – 1801T → K in GS. 1 Publication
Corresponds to variant rs146158333 [ dbSNP | Ensembl ].
VAR_039487
Natural varianti186 – 1861G → D in GS. 1 Publication
VAR_039488
Natural varianti192 – 1921I → T in GS; associated with deletion of N-566. 1 Publication
VAR_075941
Natural varianti194 – 1941T → I in GS. 1 Publication
VAR_075942
Natural varianti209 – 2091R → Q in GS. 2 Publications
Corresponds to variant rs28936388 [ dbSNP | Ensembl ].
VAR_039489
Natural varianti209 – 2091R → W in GS. 4 Publications
Corresponds to variant rs28936388 [ dbSNP | Ensembl ].
VAR_007113
Natural varianti215 – 2151L → P in GS. 1 Publication
Corresponds to variant rs780594361 [ dbSNP | Ensembl ].
VAR_039490
Natural varianti226 – 2261A → T in GS. 1 Publication
Corresponds to variant rs774753202 [ dbSNP | Ensembl ].
VAR_039491
Natural varianti230 – 2301G → D in GS. 1 Publication
Corresponds to variant rs375990084 [ dbSNP | Ensembl ].
VAR_039492
Natural varianti235 – 2351T → R in GS. 1 Publication
VAR_075943
Natural varianti259 – 2591D → N in GS. 1 Publication
VAR_075944
Natural varianti261 – 2611R → H in GS. 1 Publication
VAR_039493
Natural varianti272 – 2721L → P in GS. 1 Publication
VAR_075945
Natural varianti283 – 2831S → Y in GS. 1 Publication
VAR_039495
Natural varianti284 – 2841K → R in GS. 1 Publication
VAR_039496
Natural varianti304 – 3041T → M in GS. 1 Publication
VAR_075946
Natural varianti304 – 3041T → P in GS. 2 Publications
Corresponds to variant rs753840283 [ dbSNP | Ensembl ].
VAR_039497
Natural varianti313 – 3131A → V in GS. 2 Publications
Corresponds to variant rs140551719 [ dbSNP | Ensembl ].
VAR_039498
Natural varianti316 – 3161G → V in GS. 1 Publication
Corresponds to variant rs748920885 [ dbSNP | Ensembl ].
VAR_039499
Natural varianti321 – 3211R → W in GS. 2 Publications
Corresponds to variant rs150046661 [ dbSNP | Ensembl ].
VAR_039500
Natural varianti334 – 3341R → W in GS. 2 Publications
Corresponds to variant rs770702194 [ dbSNP | Ensembl ].
VAR_039501
Natural varianti342 – 3421G → A in GS. 1 Publication
VAR_039502
Natural varianti349 – 3491P → L in GS. 2 Publications
Corresponds to variant rs121909383 [ dbSNP | Ensembl ].
VAR_007114
Natural varianti374 – 3741G → E in GS. 1 Publication
VAR_075947
Natural varianti374 – 3741G → V in GS. 1 Publication
Corresponds to variant rs773669504 [ dbSNP | Ensembl ].
VAR_039503
Natural varianti382 – 3821T → M in GS. 1 Publication
VAR_075948
Natural varianti392 – 3921T → I in GS; complete loss Na(+) uptake activity; partial loss of localization at the plasma membrane. 1 Publication
VAR_075949
Natural varianti399 – 3991R → C in GS. 2 Publications
Corresponds to variant rs775931992 [ dbSNP | Ensembl ].
VAR_039504
Natural varianti421 – 4211C → R in GS. 1 Publication
Corresponds to variant rs28936387 [ dbSNP | Ensembl ].
VAR_007115
Natural varianti433 – 4364QHSC → L in GS. 1 Publication
VAR_075950
Natural varianti439 – 4391G → S in GS; does not affect MAPK1/3 (ERK1/2) phosphorylation in response to IL18. 4 Publications
Corresponds to variant rs759377924 [ dbSNP | Ensembl ].
VAR_039505
Natural varianti442 – 4421N → S in GS; 68% residual Na(+) uptake activity; partial loss of localization at the plasma membrane. 1 Publication
VAR_075951
Natural varianti463 – 4631G → E in GS. 1 Publication
VAR_039506
Natural varianti463 – 4631G → R in GS. 1 Publication
VAR_075952
Natural varianti464 – 4641A → T in GS. 2 Publications
Corresponds to variant rs201945662 [ dbSNP | Ensembl ].
VAR_039507
Natural varianti475 – 4751S → C in GS; 40% residual Na(+) uptake activity; increased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; no effect on localization at the plasma membrane. 2 Publications
VAR_075953
Natural varianti478 – 4781K → E in GS. 1 Publication
VAR_039508
Natural varianti486 – 4861D → N in GS. 2 Publications
Corresponds to variant rs753523115 [ dbSNP | Ensembl ].
VAR_007116
Natural varianti489 – 4891Y → H in GS; 48% residual Na(+) uptake activity; no effect on localization at the plasma membrane. 1 Publication
VAR_075954
Natural varianti496 – 4961G → C in GS. 2 Publications
Corresponds to variant rs777612082 [ dbSNP | Ensembl ].
VAR_007117
Natural varianti507 – 5071R → C in GS. 1 Publication
VAR_075955
Natural varianti523 – 5231A → T in GS. 1 Publication
VAR_075956
Natural varianti534 – 5341N → S in GS. 1 Publication
VAR_075957
Natural varianti536 – 5361F → L in GS. 1 Publication
VAR_075958
Natural varianti542 – 5421L → P in GS. 1 Publication
Corresponds to variant rs574357286 [ dbSNP | Ensembl ].
VAR_039509
Natural varianti546 – 5461S → G in GS. 1 Publication
VAR_075959
Natural varianti555 – 5551S → L in GS. 2 Publications
Corresponds to variant rs148038173 [ dbSNP | Ensembl ].
VAR_039510
Natural varianti560 – 5601P → H in GS. 1 Publication
VAR_039511
Natural varianti560 – 5601P → R in GS. 1 Publication
VAR_075960
Natural varianti561 – 5611Missing in GS. 1 Publication
VAR_007118
Natural varianti566 – 5661Missing in GS; associated with T-192. 1 Publication
VAR_075961
Natural varianti569 – 5691A → E in GS. 1 Publication
VAR_039512
Natural varianti569 – 5691A → V in GS. 1 Publication
Corresponds to variant rs79351185 [ dbSNP | Ensembl ].
VAR_039513
Natural varianti578 – 5781V → M in GS. 1 Publication
Corresponds to variant rs139329616 [ dbSNP | Ensembl ].
VAR_039514
Natural varianti588 – 5881A → V in GS. 2 Publications
Corresponds to variant rs121909382 [ dbSNP | Ensembl ].
VAR_007119
Natural varianti613 – 6131G → S in GS. 1 Publication
VAR_039515
Natural varianti615 – 6151S → L in GS. 3 Publications
Corresponds to variant rs779160677 [ dbSNP | Ensembl ].
VAR_039516
Natural varianti615 – 6151S → W in GS. 1 Publication
VAR_039517
Natural varianti623 – 6231L → P in GS. 2 Publications
Corresponds to variant rs121909385 [ dbSNP | Ensembl ].
VAR_039518
Natural varianti630 – 6301G → V in GS. 1 Publication
Corresponds to variant rs28936389 [ dbSNP | Ensembl ].
VAR_007120
Natural varianti642 – 6421R → C in GS. 3 Publications
Corresponds to variant rs200697179 [ dbSNP | Ensembl ].
VAR_039519
Natural varianti642 – 6421R → G in GS. 3 Publications
Corresponds to variant rs200697179 [ dbSNP | Ensembl ].
VAR_039520
Natural varianti642 – 6421R → H in GS. 3 Publications
Corresponds to variant rs147901432 [ dbSNP | Ensembl ].
VAR_039521
Natural varianti643 – 6431P → L in GS. 3 Publications
Corresponds to variant rs140012781 [ dbSNP | Ensembl ].
VAR_039522
Natural varianti647 – 6471V → M in GS. 1 Publication
VAR_075962
Natural varianti649 – 6491T → R in GS. 1 Publication
VAR_039523
Natural varianti655 – 6551R → C in GS. 1 Publication
Corresponds to variant rs747249619 [ dbSNP | Ensembl ].
VAR_039524
Natural varianti655 – 6551R → H in GS. 2 Publications
Corresponds to variant rs121909380 [ dbSNP | Ensembl ].
VAR_007121
Natural varianti655 – 6551R → L in GS. 1 Publication
Corresponds to variant rs121909380 [ dbSNP | Ensembl ].
VAR_007122
Natural varianti672 – 6721M → I in GS. 1 Publication
VAR_039525
Natural varianti677 – 6771V → L in GS. 1 Publication
VAR_039526
Natural varianti677 – 6771V → M in GS. 1 Publication
Corresponds to variant rs771326058 [ dbSNP | Ensembl ].
VAR_039527
Natural varianti713 – 7131I → IKAFYSDVI in GS. 1 Publication
VAR_075963
Natural varianti729 – 7291G → V in GS. 2 Publications
Corresponds to variant rs373901523 [ dbSNP | Ensembl ].
VAR_039528
Natural varianti731 – 7311G → R in GS. 2 Publications
Corresponds to variant rs752101663 [ dbSNP | Ensembl ].
VAR_039529
Natural varianti735 – 7351P → R in GS. 1 Publication
VAR_075964
Natural varianti738 – 7381L → R in GS. 1 Publication
VAR_039530
Natural varianti741 – 7411G → R in GS. 4 Publications
Corresponds to variant rs138977195 [ dbSNP | Ensembl ].
VAR_007124
Natural varianti751 – 7511P → L in GS; 54% residual Na(+) uptake activity; no effect on localization at the plasma membrane. 1 Publication
VAR_075965
Natural varianti824 – 8241S → T in GS. 1 Publication
VAR_075966
Natural varianti839 – 8391D → N in GS. 1 Publication
VAR_075967
Natural varianti849 – 8491L → F in GS. 1 Publication
VAR_075968
Natural varianti849 – 8491L → H in GS. 3 Publications
Corresponds to variant rs185927948 [ dbSNP | Ensembl ].
VAR_039531
Natural varianti850 – 8501L → P in GS. 3 Publications
Corresponds to variant rs121909379 [ dbSNP | Ensembl ].
VAR_007125
Natural varianti852 – 8521R → C in GS. 3 Publications
Corresponds to variant rs373899077 [ dbSNP | Ensembl ].
VAR_039532
Natural varianti852 – 8521R → H in GS. 1 Publication
Corresponds to variant rs751929135 [ dbSNP | Ensembl ].
VAR_039533
Natural varianti852 – 8521R → S in GS. 1 Publication
VAR_039534
Natural varianti862 – 8621R → C in GS. 1 Publication
VAR_075969
Natural varianti867 – 8671G → S in GS. 1 Publication
Corresponds to variant rs370301695 [ dbSNP | Ensembl ].
VAR_039535
Natural varianti871 – 8711R → H in GS. 1 Publication
VAR_039536
Natural varianti872 – 8721M → T in GS. 1 Publication
VAR_075970
Natural varianti887 – 8871R → Q in GS. 1 Publication
VAR_075971
Natural varianti934 – 9341R → W in GS. 1 Publication
VAR_075972
Natural varianti935 – 9351R → W in GS; unknown pathological significance. 1 Publication
VAR_075973
Natural varianti955 – 9551R → Q in GS. 2 Publications
Corresponds to variant rs202114767 [ dbSNP | Ensembl ].
VAR_007126
Natural varianti958 – 9581R → G in GS. 2 Publications
Corresponds to variant rs773428143 [ dbSNP | Ensembl ].
VAR_039539
Natural varianti980 – 9801G → R in GS. 1 Publication
VAR_075974
Natural varianti985 – 9851C → Y in GS. 2 Publications
Corresponds to variant rs199849117 [ dbSNP | Ensembl ].
VAR_039540
Natural varianti1009 – 10091R → Q in GS. 1 Publication
VAR_075975
Natural varianti1021 – 10211Q → R in GS; 58% residual Na(+) uptake activity; decreased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; partial loss of localization at the plasma membrane. 1 Publication
VAR_075976

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiSLC12A3.
MIMi263800. phenotype.
Orphaneti358. Gitelman syndrome.
PharmGKBiPA321.

Chemistry

ChEMBLiCHEMBL1876.
DrugBankiDB00436. Bendroflumethiazide.
DB00562. Benzthiazide.
DB00880. Chlorothiazide.
DB01119. Diazoxide.
DB00999. Hydrochlorothiazide.
DB00524. Metolazone.
DB01324. Polythiazide.
DB01325. Quinethazone.

Polymorphism and mutation databases

BioMutaiSLC12A3.
DMDMi313104194.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10211021Solute carrier family 12 member 3PRO_0000178026Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei43 – 431PhosphoserineBy similarity
Modified residuei49 – 491PhosphoserineBy similarity
Modified residuei50 – 501PhosphothreonineBy similarity
Modified residuei55 – 551PhosphothreonineBy similarity
Modified residuei60 – 601PhosphothreonineBy similarity
Modified residuei73 – 731PhosphoserineBy similarity
Modified residuei91 – 911PhosphoserineCombined sources
Modified residuei124 – 1241PhosphothreonineBy similarity
Modified residuei126 – 1261PhosphoserineBy similarity
Glycosylationi406 – 4061N-linked (GlcNAc...)Sequence analysis
Glycosylationi426 – 4261N-linked (GlcNAc...)Sequence analysis

Post-translational modificationi

Ubiquitinated; ubiquitination is essential for regulation of endocytosis. The BCR(KLHL3) complex was initially identified as a candidate ubiquitin ligase for SLC12A3 (PubMed:22406640). However, it was later shown that it is not the case.1 Publication
Phosphorylated in response to IL18.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiP55017.
PeptideAtlasiP55017.
PRIDEiP55017.

PTM databases

iPTMnetiP55017.
PhosphoSiteiP55017.

Expressioni

Tissue specificityi

Predominantly expressed in kidney (PubMed:8812482). Not detected in normal aorta, but abundantly expressed in fatty streaks and advanced atherosclerotic lesions (at protein level) (PubMed:26099046).2 Publications

Gene expression databases

BgeeiP55017.
CleanExiHS_SLC12A3.
ExpressionAtlasiP55017. baseline and differential.
GenevisibleiP55017. HS.

Organism-specific databases

HPAiCAB022505.
HPA028748.

Interactioni

Subunit structurei

Interacts with KLHL3 (PubMed:22406640). Interacts with IL18R1; this interaction is increased by IL18 treatment (By similarity).By similarity1 Publication

Protein-protein interaction databases

BioGridi112448. 11 interactions.
STRINGi9606.ENSP00000402152.

Structurei

3D structure databases

ProteinModelPortaliP55017.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SLC12A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2083. Eukaryota.
COG0531. LUCA.
GeneTreeiENSGT00760000119053.
HOGENOMiHOG000062855.
HOVERGENiHBG052851.
InParanoidiP55017.
KOiK14426.
OMAiGPRKQRM.
OrthoDBiEOG75MVVC.
PhylomeDBiP55017.
TreeFamiTF313191.

Family and domain databases

InterProiIPR004841. AA-permease/SLC12A_dom.
IPR013612. AA_permease_N.
IPR018491. SLC12_C.
IPR002948. SLC12A3.
IPR004842. SLC12A_fam.
[Graphical view]
PANTHERiPTHR11827:SF9. PTHR11827:SF9. 3 hits.
PfamiPF00324. AA_permease. 1 hit.
PF08403. AA_permease_N. 1 hit.
PF03522. SLC12. 2 hits.
[Graphical view]
PRINTSiPR01230. NACLTRNSPORT.
TIGRFAMsiTIGR00930. 2a30. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P55017-1) [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
MAELPTTETP GDATLCSGRF TISTLLSSDE PSPPAAYDSS HPSHLTHSST
60 70 80 90 100
FCMRTFGYNT IDVVPTYEHY ANSTQPGEPR KVRPTLADLH SFLKQEGRHL
110 120 130 140 150
HALAFDSRPS HEMTDGLVEG EAGTSSEKNP EEPVRFGWVK GVMIRCMLNI
160 170 180 190 200
WGVILYLRLP WITAQAGIVL TWIIILLSVT VTSITGLSIS AISTNGKVKS
210 220 230 240 250
GGTYFLISRS LGPELGGSIG LIFAFANAVG VAMHTVGFAE TVRDLLQEYG
260 270 280 290 300
APIVDPINDI RIIAVVSVTV LLAISLAGME WESKAQVLFF LVIMVSFANY
310 320 330 340 350
LVGTLIPPSE DKASKGFFSY RADIFVQNLV PDWRGPDGTF FGMFSIFFPS
360 370 380 390 400
ATGILAGANI SGDLKDPAIA IPKGTLMAIF WTTISYLAIS ATIGSCVVRD
410 420 430 440 450
ASGVLNDTVT PGWGACEGLA CSYGWNFTEC TQQHSCHYGL INYYQTMSMV
460 470 480 490 500
SGFAPLITAG IFGATLSSAL ACLVSAAKVF QCLCEDQLYP LIGFFGKGYG
510 520 530 540 550
KNKEPVRGYL LAYAIAVAFI IIAELNTIAP IISNFFLCSY ALINFSCFHA
560 570 580 590 600
SITNSPGWRP SFQYYNKWAA LFGAIISVVI MFLLTWWAAL IAIGVVLFLL
610 620 630 640 650
LYVIYKKPEV NWGSSVQAGS YNLALSYSVG LNEVEDHIKN YRPQCLVLTG
660 670 680 690 700
PPNFRPALVD FVGTFTRNLS LMICGHVLIG PHKQRMPELQ LIANGHTKWL
710 720 730 740 750
NKRKIKAFYS DVIAEDLRRG VQILMQAAGL GRMKPNILVV GFKKNWQSAH
760 770 780 790 800
PATVEDYIGI LHDAFDFNYG VCVMRMREGL NVSKMMQAHI NPVFDPAEDG
810 820 830 840 850
KEASARVDPK ALVKEEQATT IFQSEQGKKT IDIYWLFDDG GLTLLIPYLL
860 870 880 890 900
GRKRRWSKCK IRVFVGGQIN RMDQERKAII SLLSKFRLGF HEVHILPDIN
910 920 930 940 950
QNPRAEHTKR FEDMIAPFRL NDGFKDEATV NEMRRDCPWK ISDEEITKNR
960 970 980 990 1000
VKSLRQVRLN EIVLDYSRDA ALIVITLPIG RKGKCPSSLY MAWLETLSQD
1010 1020
LRPPVILIRG NQENVLTFYC Q
Length:1,021
Mass (Da):113,139
Last modified:November 30, 2010 - v3
Checksum:i629C5A42F3234B71
GO
Isoform 2 (identifier: P55017-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     807-807: V → GARPSVSGAL

Show »
Length:1,030
Mass (Da):113,936
Checksum:i5CB36A5FF81494A3
GO
Isoform 3 (identifier: P55017-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     95-95: Missing.
     807-807: V → GARPSVSGAL

Note: No experimental confirmation available.
Show »
Length:1,029
Mass (Da):113,808
Checksum:iDD190B2391AE0525
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti459 – 4602AG → VV in CAA62613 (PubMed:8812482).Curated
Sequence conflicti539 – 5391S → P in AK315298 (PubMed:14702039).Curated
Sequence conflicti766 – 7661D → E in AAC50355 (PubMed:8528245).Curated
Sequence conflicti778 – 7781Missing in AK315298 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601T → M in GS. 2 Publications
Corresponds to variant rs371443644 [ dbSNP | Ensembl ].
VAR_039475
Natural varianti62 – 621D → H in GS. 1 Publication
VAR_075931
Natural varianti62 – 621D → N in GS. 1 Publication
VAR_039476
Natural varianti68 – 681E → K in GS. 1 Publication
Corresponds to variant rs763210286 [ dbSNP | Ensembl ].
VAR_039477
Natural varianti69 – 691H → N in GS. 1 Publication
Corresponds to variant rs780502516 [ dbSNP | Ensembl ].
VAR_039478
Natural varianti83 – 831R → Q in GS. 1 Publication
VAR_075932
Natural varianti83 – 831R → W in GS. 1 Publication
VAR_075933
Natural varianti90 – 901H → Y in GS. 1 Publication
VAR_039479
Natural varianti121 – 1211E → D in GS; 27% residual Na(+) uptake activity; increased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; no effect on localization at the plasma membrane. 2 Publications
VAR_075934
Natural varianti135 – 1351R → C in GS. 1 Publication
VAR_075935
Natural varianti145 – 1451R → C in GS. 1 Publication
VAR_075936
Natural varianti145 – 1451R → H in GS. 1 Publication
Corresponds to variant rs374324018 [ dbSNP | Ensembl ].
VAR_039480
Natural varianti150 – 1501I → M in GS. 1 Publication
VAR_075937
Natural varianti153 – 1531V → M in GS. 2 Publications
Corresponds to variant rs779074538 [ dbSNP | Ensembl ].
VAR_039481
Natural varianti154 – 1541I → F in GS. 1 Publication
Corresponds to variant rs748547209 [ dbSNP | Ensembl ].
VAR_039482
Natural varianti157 – 1571L → P in GS. 1 Publication
VAR_075938
Natural varianti158 – 1581R → L in GS. 1 Publication
VAR_075939
Natural varianti158 – 1581R → Q in GS. 1 Publication
VAR_039483
Natural varianti163 – 1631T → M in GS. 2 Publications
Corresponds to variant rs267607050 [ dbSNP | Ensembl ].
VAR_039484
Natural varianti166 – 1661A → V in GS. 1 Publication
VAR_075940
Natural varianti172 – 1721W → R in GS. 2 Publications
Corresponds to variant rs757792232 [ dbSNP | Ensembl ].
VAR_039485
Natural varianti178 – 1781S → L in GS. 2 Publications
Corresponds to variant rs772589653 [ dbSNP | Ensembl ].
VAR_039486
Natural varianti180 – 1801T → K in GS. 1 Publication
Corresponds to variant rs146158333 [ dbSNP | Ensembl ].
VAR_039487
Natural varianti186 – 1861G → D in GS. 1 Publication
VAR_039488
Natural varianti192 – 1921I → T in GS; associated with deletion of N-566. 1 Publication
VAR_075941
Natural varianti194 – 1941T → I in GS. 1 Publication
VAR_075942
Natural varianti209 – 2091R → Q in GS. 2 Publications
Corresponds to variant rs28936388 [ dbSNP | Ensembl ].
VAR_039489
Natural varianti209 – 2091R → W in GS. 4 Publications
Corresponds to variant rs28936388 [ dbSNP | Ensembl ].
VAR_007113
Natural varianti215 – 2151L → P in GS. 1 Publication
Corresponds to variant rs780594361 [ dbSNP | Ensembl ].
VAR_039490
Natural varianti226 – 2261A → T in GS. 1 Publication
Corresponds to variant rs774753202 [ dbSNP | Ensembl ].
VAR_039491
Natural varianti230 – 2301G → D in GS. 1 Publication
Corresponds to variant rs375990084 [ dbSNP | Ensembl ].
VAR_039492
Natural varianti235 – 2351T → R in GS. 1 Publication
VAR_075943
Natural varianti259 – 2591D → N in GS. 1 Publication
VAR_075944
Natural varianti261 – 2611R → H in GS. 1 Publication
VAR_039493
Natural varianti264 – 2641A → G.5 Publications
Corresponds to variant rs1529927 [ dbSNP | Ensembl ].
VAR_039494
Natural varianti272 – 2721L → P in GS. 1 Publication
VAR_075945
Natural varianti283 – 2831S → Y in GS. 1 Publication
VAR_039495
Natural varianti284 – 2841K → R in GS. 1 Publication
VAR_039496
Natural varianti304 – 3041T → M in GS. 1 Publication
VAR_075946
Natural varianti304 – 3041T → P in GS. 2 Publications
Corresponds to variant rs753840283 [ dbSNP | Ensembl ].
VAR_039497
Natural varianti313 – 3131A → V in GS. 2 Publications
Corresponds to variant rs140551719 [ dbSNP | Ensembl ].
VAR_039498
Natural varianti316 – 3161G → V in GS. 1 Publication
Corresponds to variant rs748920885 [ dbSNP | Ensembl ].
VAR_039499
Natural varianti321 – 3211R → W in GS. 2 Publications
Corresponds to variant rs150046661 [ dbSNP | Ensembl ].
VAR_039500
Natural varianti334 – 3341R → W in GS. 2 Publications
Corresponds to variant rs770702194 [ dbSNP | Ensembl ].
VAR_039501
Natural varianti342 – 3421G → A in GS. 1 Publication
VAR_039502
Natural varianti349 – 3491P → L in GS. 2 Publications
Corresponds to variant rs121909383 [ dbSNP | Ensembl ].
VAR_007114