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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...

Keywordsi

Biological processIon transport, Sodium transport, Symport, Transport
LigandSodium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000070915-MONOMER.
ReactomeiR-HSA-426117. Cation-coupled Chloride cotransporters.
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)DescriptionActionsGraphical viewLength
Topological domaini1 – 135CytoplasmicSequence analysisAdd BLAST135
Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Transmembranei159 – 179HelicalSequence analysisAdd BLAST21
Topological domaini180 – 218CytoplasmicSequence analysisAdd BLAST39
Transmembranei219 – 239HelicalSequence analysisAdd BLAST21
Transmembranei262 – 282HelicalSequence analysisAdd BLAST21
Topological domaini283 – 286CytoplasmicSequence analysis4
Transmembranei287 – 307HelicalSequence analysisAdd BLAST21
Transmembranei340 – 360HelicalSequence analysisAdd BLAST21
Topological domaini361 – 377CytoplasmicSequence analysisAdd BLAST17
Transmembranei378 – 398HelicalSequence analysisAdd BLAST21
Transmembranei453 – 473HelicalSequence analysisAdd BLAST21
Topological domaini474 – 511CytoplasmicSequence analysisAdd BLAST38
Transmembranei512 – 532HelicalSequence analysisAdd BLAST21
Transmembranei535 – 555HelicalSequence analysisAdd BLAST21
Topological domaini556 – 577CytoplasmicSequence analysisAdd BLAST22
Transmembranei578 – 598HelicalSequence analysisAdd BLAST21
Transmembranei661 – 681HelicalSequence analysisAdd BLAST21
Topological domaini682 – 1021CytoplasmicSequence analysisAdd BLAST340

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

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Gitelman syndrome (GTLMNS)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)DescriptionActionsGraphical viewLength
Natural variantiVAR_03947560T → M in GTLMNS. Corresponds to variant dbSNP:rs3714436442 PublicationsEnsembl.1
Natural variantiVAR_07593162D → H in GTLMNS. Corresponds to variant dbSNP:rs7574904961 PublicationEnsembl.1
Natural variantiVAR_03947662D → N in GTLMNS. 1 Publication1
Natural variantiVAR_03947768E → K in GTLMNS. Corresponds to variant dbSNP:rs7632102861 PublicationEnsembl.1
Natural variantiVAR_03947869H → N in GTLMNS. Corresponds to variant dbSNP:rs7805025161 PublicationEnsembl.1
Natural variantiVAR_07593283R → Q in GTLMNS. Corresponds to variant dbSNP:rs7685272311 PublicationEnsembl.1
Natural variantiVAR_07593383R → W in GTLMNS. Corresponds to variant dbSNP:rs2012555081 PublicationEnsembl.1
Natural variantiVAR_03947990H → Y in GTLMNS. 1 Publication1
Natural variantiVAR_075934121E → D in GTLMNS; 27% residual Na(+) uptake activity; increased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; no effect on localization at the plasma membrane. Corresponds to variant dbSNP:rs1466326062 PublicationsEnsembl.1
Natural variantiVAR_075935135R → C in GTLMNS. Corresponds to variant dbSNP:rs7497421021 PublicationEnsembl.1
Natural variantiVAR_075936145R → C in GTLMNS. Corresponds to variant dbSNP:rs1489459661 PublicationEnsembl.1
Natural variantiVAR_039480145R → H in GTLMNS. Corresponds to variant dbSNP:rs3743240181 PublicationEnsembl.1
Natural variantiVAR_075937150I → M in GTLMNS. Corresponds to variant dbSNP:rs1437143181 PublicationEnsembl.1
Natural variantiVAR_039481153V → M in GTLMNS. Corresponds to variant dbSNP:rs7790745382 PublicationsEnsembl.1
Natural variantiVAR_039482154I → F in GTLMNS. Corresponds to variant dbSNP:rs7485472091 PublicationEnsembl.1
Natural variantiVAR_075938157L → P in GTLMNS. Corresponds to variant dbSNP:rs7750472461 PublicationEnsembl.1
Natural variantiVAR_075939158R → L in GTLMNS. 1 Publication1
Natural variantiVAR_039483158R → Q in GTLMNS. 1 Publication1
Natural variantiVAR_039484163T → M in GTLMNS. Corresponds to variant dbSNP:rs2676070502 PublicationsEnsembl.1
Natural variantiVAR_075940166A → V in GTLMNS. Corresponds to variant dbSNP:rs7796832141 PublicationEnsembl.1
Natural variantiVAR_039485172W → R in GTLMNS. Corresponds to variant dbSNP:rs7577922322 PublicationsEnsembl.1
Natural variantiVAR_039486178S → L in GTLMNS. Corresponds to variant dbSNP:rs7725896532 PublicationsEnsembl.1
Natural variantiVAR_039487180T → K in GTLMNS. Corresponds to variant dbSNP:rs1461583331 PublicationEnsembl.1
Natural variantiVAR_039488186G → D in GTLMNS. 1 Publication1
Natural variantiVAR_075941192I → T in GTLMNS; associated with deletion of N-566. 1 Publication1
Natural variantiVAR_075942194T → I in GTLMNS. 1 Publication1
Natural variantiVAR_039489209R → Q in GTLMNS. Corresponds to variant dbSNP:rs289363882 PublicationsEnsembl.1
Natural variantiVAR_007113209R → W in GTLMNS. Corresponds to variant dbSNP:rs289363884 PublicationsEnsembl.1
Natural variantiVAR_039490215L → P in GTLMNS. Corresponds to variant dbSNP:rs7805943611 PublicationEnsembl.1
Natural variantiVAR_039491226A → T in GTLMNS. Corresponds to variant dbSNP:rs7747532021 PublicationEnsembl.1
Natural variantiVAR_039492230G → D in GTLMNS. Corresponds to variant dbSNP:rs3759900841 PublicationEnsembl.1
Natural variantiVAR_075943235T → R in GTLMNS. 1 Publication1
Natural variantiVAR_075944259D → N in GTLMNS. Corresponds to variant dbSNP:rs7804616391 PublicationEnsembl.1
Natural variantiVAR_039493261R → H in GTLMNS. 1 Publication1
Natural variantiVAR_075945272L → P in GTLMNS. Corresponds to variant dbSNP:rs5685131061 PublicationEnsembl.1
Natural variantiVAR_039495283S → Y in GTLMNS. 1 Publication1
Natural variantiVAR_039496284K → R in GTLMNS. 1 Publication1
Natural variantiVAR_075946304T → M in GTLMNS. Corresponds to variant dbSNP:rs7550694361 PublicationEnsembl.1
Natural variantiVAR_039497304T → P in GTLMNS. Corresponds to variant dbSNP:rs7538402832 PublicationsEnsembl.1
Natural variantiVAR_039498313A → V in GTLMNS. Corresponds to variant dbSNP:rs1405517192 PublicationsEnsembl.1
Natural variantiVAR_039499316G → V in GTLMNS. Corresponds to variant dbSNP:rs7489208851 PublicationEnsembl.1
Natural variantiVAR_039500321R → W in GTLMNS. Corresponds to variant dbSNP:rs1500466612 PublicationsEnsembl.1
Natural variantiVAR_039501334R → W in GTLMNS. Corresponds to variant dbSNP:rs7707021942 PublicationsEnsembl.1
Natural variantiVAR_039502342G → A in GTLMNS. 1 Publication1
Natural variantiVAR_007114349P → L in GTLMNS. Corresponds to variant dbSNP:rs1219093832 PublicationsEnsembl.1
Natural variantiVAR_075947374G → E in GTLMNS. 1 Publication1
Natural variantiVAR_039503374G → V in GTLMNS. Corresponds to variant dbSNP:rs7736695041 PublicationEnsembl.1
Natural variantiVAR_075948382T → M in GTLMNS. Corresponds to variant dbSNP:rs1878857821 PublicationEnsembl.1
Natural variantiVAR_075949392T → I in GTLMNS; complete loss Na(+) uptake activity; partial loss of localization at the plasma membrane. Corresponds to variant dbSNP:rs7485758291 PublicationEnsembl.1
Natural variantiVAR_039504399R → C in GTLMNS. Corresponds to variant dbSNP:rs7759319922 PublicationsEnsembl.1
Natural variantiVAR_007115421C → R in GTLMNS. Corresponds to variant dbSNP:rs289363871 PublicationEnsembl.1
Natural variantiVAR_075950433 – 436QHSC → L in GTLMNS. 1 Publication4
Natural variantiVAR_039505439G → S in GTLMNS; does not affect MAPK1/3 (ERK1/2) phosphorylation in response to IL18. Corresponds to variant dbSNP:rs7593779244 PublicationsEnsembl.1
Natural variantiVAR_075951442N → S in GTLMNS; 68% residual Na(+) uptake activity; partial loss of localization at the plasma membrane. 1 Publication1
Natural variantiVAR_039506463G → E in GTLMNS. 1 Publication1
Natural variantiVAR_075952463G → R in GTLMNS. Corresponds to variant dbSNP:rs3741638231 PublicationEnsembl.1
Natural variantiVAR_039507464A → T in GTLMNS. Corresponds to variant dbSNP:rs2019456622 PublicationsEnsembl.1
Natural variantiVAR_075953475S → C in GTLMNS; 40% residual Na(+) uptake activity; increased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; no effect on localization at the plasma membrane. Corresponds to variant dbSNP:rs3730173212 PublicationsEnsembl.1
Natural variantiVAR_039508478K → E in GTLMNS. 1 Publication1
Natural variantiVAR_007116486D → N in GTLMNS. Corresponds to variant dbSNP:rs7535231152 PublicationsEnsembl.1
Natural variantiVAR_075954489Y → H in GTLMNS; 48% residual Na(+) uptake activity; no effect on localization at the plasma membrane. 1 Publication1
Natural variantiVAR_007117496G → C in GTLMNS. Corresponds to variant dbSNP:rs7776120822 PublicationsEnsembl.1
Natural variantiVAR_075955507R → C in GTLMNS. Corresponds to variant dbSNP:rs3695102261 PublicationEnsembl.1
Natural variantiVAR_075956523A → T in GTLMNS. Corresponds to variant dbSNP:rs7811377081 PublicationEnsembl.1
Natural variantiVAR_075957534N → S in GTLMNS. Corresponds to variant dbSNP:rs7804333361 PublicationEnsembl.1
Natural variantiVAR_075958536F → L in GTLMNS. Corresponds to variant dbSNP:rs7486507981 PublicationEnsembl.1
Natural variantiVAR_039509542L → P in GTLMNS. Corresponds to variant dbSNP:rs5743572861 PublicationEnsembl.1
Natural variantiVAR_075959546S → G in GTLMNS. 1 Publication1
Natural variantiVAR_039510555S → L in GTLMNS. Corresponds to variant dbSNP:rs1480381732 PublicationsEnsembl.1
Natural variantiVAR_039511560P → H in GTLMNS. 1 Publication1
Natural variantiVAR_075960560P → R in GTLMNS. 1 Publication1
Natural variantiVAR_007118561Missing in GTLMNS. 1 Publication1
Natural variantiVAR_075961566Missing in GTLMNS; associated with T-192. 1 Publication1
Natural variantiVAR_039512569A → E in GTLMNS. 1 Publication1
Natural variantiVAR_039513569A → V in GTLMNS. Corresponds to variant dbSNP:rs793511851 PublicationEnsembl.1
Natural variantiVAR_039514578V → M in GTLMNS. Corresponds to variant dbSNP:rs1393296161 PublicationEnsembl.1
Natural variantiVAR_007119588A → V in GTLMNS. Corresponds to variant dbSNP:rs1219093822 PublicationsEnsembl.1
Natural variantiVAR_039515613G → S in GTLMNS. 1 Publication1
Natural variantiVAR_039516615S → L in GTLMNS. Corresponds to variant dbSNP:rs7791606773 PublicationsEnsembl.1
Natural variantiVAR_039517615S → W in GTLMNS. 1 Publication1
Natural variantiVAR_039518623L → P in GTLMNS. Corresponds to variant dbSNP:rs1219093852 PublicationsEnsembl.1
Natural variantiVAR_007120630G → V in GTLMNS. Corresponds to variant dbSNP:rs289363891 PublicationEnsembl.1
Natural variantiVAR_039519642R → C in GTLMNS. Corresponds to variant dbSNP:rs2006971793 PublicationsEnsembl.1
Natural variantiVAR_039520642R → G in GTLMNS. Corresponds to variant dbSNP:rs2006971793 PublicationsEnsembl.1
Natural variantiVAR_039521642R → H in GTLMNS. Corresponds to variant dbSNP:rs1479014323 PublicationsEnsembl.1
Natural variantiVAR_039522643P → L in GTLMNS. Corresponds to variant dbSNP:rs1400127813 PublicationsEnsembl.1
Natural variantiVAR_075962647V → M in GTLMNS. 1 Publication1
Natural variantiVAR_039523649T → R in GTLMNS. 1 Publication1
Natural variantiVAR_039524655R → C in GTLMNS. Corresponds to variant dbSNP:rs7472496191 PublicationEnsembl.1
Natural variantiVAR_007121655R → H in GTLMNS. Corresponds to variant dbSNP:rs1219093802 PublicationsEnsembl.1
Natural variantiVAR_007122655R → L in GTLMNS. Corresponds to variant dbSNP:rs1219093801 PublicationEnsembl.1
Natural variantiVAR_039525672M → I in GTLMNS. 1 Publication1
Natural variantiVAR_039526677V → L in GTLMNS. 1 Publication1
Natural variantiVAR_039527677V → M in GTLMNS. Corresponds to variant dbSNP:rs7713260581 PublicationEnsembl.1
Natural variantiVAR_075963713I → IKAFYSDVI in GTLMNS. 1 Publication1
Natural variantiVAR_039528729G → V in GTLMNS. Corresponds to variant dbSNP:rs3739015232 PublicationsEnsembl.1
Natural variantiVAR_039529731G → R in GTLMNS. Corresponds to variant dbSNP:rs7521016632 PublicationsEnsembl.1
Natural variantiVAR_075964735P → R in GTLMNS. 1 Publication1
Natural variantiVAR_039530738L → R in GTLMNS. 1 Publication1
Natural variantiVAR_007124741G → R in GTLMNS. Corresponds to variant dbSNP:rs1389771954 PublicationsEnsembl.1
Natural variantiVAR_075965751P → L in GTLMNS; 54% residual Na(+) uptake activity; no effect on localization at the plasma membrane. Corresponds to variant dbSNP:rs3680683531 PublicationEnsembl.1
Natural variantiVAR_075966824S → T in GTLMNS. Corresponds to variant dbSNP:rs1468459531 PublicationEnsembl.1
Natural variantiVAR_075967839D → N in GTLMNS. 1 Publication1
Natural variantiVAR_075968849L → F in GTLMNS. 1 Publication1
Natural variantiVAR_039531849L → H in GTLMNS. Corresponds to variant dbSNP:rs1859279483 PublicationsEnsembl.1
Natural variantiVAR_007125850L → P in GTLMNS. Corresponds to variant dbSNP:rs1219093793 PublicationsEnsembl.1
Natural variantiVAR_039532852R → C in GTLMNS. Corresponds to variant dbSNP:rs3738990773 PublicationsEnsembl.1
Natural variantiVAR_039533852R → H in GTLMNS. Corresponds to variant dbSNP:rs7519291351 PublicationEnsembl.1
Natural variantiVAR_039534852R → S in GTLMNS. 1 Publication1
Natural variantiVAR_075969862R → C in GTLMNS. Corresponds to variant dbSNP:rs7545055831 PublicationEnsembl.1
Natural variantiVAR_039535867G → S in GTLMNS. Corresponds to variant dbSNP:rs3703016951 PublicationEnsembl.1
Natural variantiVAR_039536871R → H in GTLMNS. 1 Publication1
Natural variantiVAR_075970872M → T in GTLMNS. Corresponds to variant dbSNP:rs7521248791 PublicationEnsembl.1
Natural variantiVAR_075971887R → Q in GTLMNS. Corresponds to variant dbSNP:rs3693603341 PublicationEnsembl.1
Natural variantiVAR_075972934R → W in GTLMNS. Corresponds to variant dbSNP:rs2017212691 PublicationEnsembl.1
Natural variantiVAR_075973935R → W in GTLMNS; unknown pathological significance. Corresponds to variant dbSNP:rs561252201 PublicationEnsembl.1
Natural variantiVAR_007126955R → Q in GTLMNS. Corresponds to variant dbSNP:rs2021147672 PublicationsEnsembl.1
Natural variantiVAR_039539958R → G in GTLMNS. Corresponds to variant dbSNP:rs7734281432 PublicationsEnsembl.1
Natural variantiVAR_075974980G → R in GTLMNS. Corresponds to variant dbSNP:rs348037271 PublicationEnsembl.1
Natural variantiVAR_039540985C → Y in GTLMNS. Corresponds to variant dbSNP:rs1998491172 PublicationsEnsembl.1
Natural variantiVAR_0759751009R → Q in GTLMNS. Corresponds to variant dbSNP:rs3701757701 PublicationEnsembl.1
Natural variantiVAR_0759761021Q → R in GTLMNS; 58% residual Na(+) uptake activity; decreased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; partial loss of localization at the plasma membrane. Corresponds to variant dbSNP:rs7620262831 PublicationEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6559.
MalaCardsiSLC12A3.
MIMi263800. phenotype.
OpenTargetsiENSG00000070915.
Orphaneti358. Gitelman syndrome.
PharmGKBiPA321.

Chemistry databases

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)DescriptionActionsGraphical viewLength
ChainiPRO_00001780261 – 1021Solute carrier family 12 member 3Add BLAST1021

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei43PhosphoserineBy similarity1
Modified residuei49PhosphoserineBy similarity1
Modified residuei50PhosphothreonineBy similarity1
Modified residuei55PhosphothreonineBy similarity1
Modified residuei60PhosphothreonineBy similarity1
Modified residuei73PhosphoserineBy similarity1
Modified residuei91PhosphoserineCombined sources1
Modified residuei124PhosphothreonineBy similarity1
Modified residuei126PhosphoserineBy similarity1
Glycosylationi406N-linked (GlcNAc...)Sequence analysis1
Glycosylationi426N-linked (GlcNAc...)Sequence analysis1

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.
PhosphoSitePlusiP55017.

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

BgeeiENSG00000070915.
CleanExiHS_SLC12A3.
ExpressionAtlasiP55017. baseline and differential.
GenevisibleiP55017. HS.

Organism-specific databases

HPAiHPA028748.

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 interactors.
STRINGi9606.ENSP00000402152.

Structurei

3D structure databases

ProteinModelPortaliP55017.
SMRiP55017.
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.
OrthoDBiEOG091G04G2.
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)DescriptionActionsGraphical viewLength
Sequence conflicti459 – 460AG → VV in CAA62613 (PubMed:8812482).Curated2
Sequence conflicti539S → P in AK315298 (PubMed:14702039).Curated1
Sequence conflicti766D → E in AAC50355 (PubMed:8528245).Curated1
Sequence conflicti778Missing in AK315298 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03947560T → M in GTLMNS. Corresponds to variant dbSNP:rs3714436442 PublicationsEnsembl.1
Natural variantiVAR_07593162D → H in GTLMNS. Corresponds to variant dbSNP:rs7574904961 PublicationEnsembl.1
Natural variantiVAR_03947662D → N in GTLMNS. 1 Publication1
Natural variantiVAR_03947768E → K in GTLMNS. Corresponds to variant dbSNP:rs7632102861 PublicationEnsembl.1
Natural variantiVAR_03947869H → N in GTLMNS. Corresponds to variant dbSNP:rs7805025161 PublicationEnsembl.1
Natural variantiVAR_07593283R → Q in GTLMNS. Corresponds to variant dbSNP:rs7685272311 PublicationEnsembl.1
Natural variantiVAR_07593383R → W in GTLMNS. Corresponds to variant dbSNP:rs2012555081 PublicationEnsembl.1
Natural variantiVAR_03947990H → Y in GTLMNS. 1 Publication1
Natural variantiVAR_075934121E → D in GTLMNS; 27% residual Na(+) uptake activity; increased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; no effect on localization at the plasma membrane. Corresponds to variant dbSNP:rs1466326062 PublicationsEnsembl.1
Natural variantiVAR_075935135R → C in GTLMNS. Corresponds to variant dbSNP:rs7497421021 PublicationEnsembl.1
Natural variantiVAR_075936145R → C in GTLMNS. Corresponds to variant dbSNP:rs1489459661 PublicationEnsembl.1
Natural variantiVAR_039480145R → H in GTLMNS. Corresponds to variant dbSNP:rs3743240181 PublicationEnsembl.1
Natural variantiVAR_075937150I → M in GTLMNS. Corresponds to variant dbSNP:rs1437143181 PublicationEnsembl.1
Natural variantiVAR_039481153V → M in GTLMNS. Corresponds to variant dbSNP:rs7790745382 PublicationsEnsembl.1
Natural variantiVAR_039482154I → F in GTLMNS. Corresponds to variant dbSNP:rs7485472091 PublicationEnsembl.1
Natural variantiVAR_075938157L → P in GTLMNS. Corresponds to variant dbSNP:rs7750472461 PublicationEnsembl.1
Natural variantiVAR_075939158R → L in GTLMNS. 1 Publication1
Natural variantiVAR_039483158R → Q in GTLMNS. 1 Publication1
Natural variantiVAR_039484163T → M in GTLMNS. Corresponds to variant dbSNP:rs2676070502 PublicationsEnsembl.1
Natural variantiVAR_075940166A → V in GTLMNS. Corresponds to variant dbSNP:rs7796832141 PublicationEnsembl.1
Natural variantiVAR_039485172W → R in GTLMNS. Corresponds to variant dbSNP:rs7577922322 PublicationsEnsembl.1
Natural variantiVAR_039486178S → L in GTLMNS. Corresponds to variant dbSNP:rs7725896532 PublicationsEnsembl.1
Natural variantiVAR_039487180T → K in GTLMNS. Corresponds to variant dbSNP:rs1461583331 PublicationEnsembl.1
Natural variantiVAR_039488186G → D in GTLMNS. 1 Publication1
Natural variantiVAR_075941192I → T in GTLMNS; associated with deletion of N-566. 1 Publication1
Natural variantiVAR_075942194T → I in GTLMNS. 1 Publication1
Natural variantiVAR_039489209R → Q in GTLMNS. Corresponds to variant dbSNP:rs289363882 PublicationsEnsembl.1
Natural variantiVAR_007113209R → W in GTLMNS. Corresponds to variant dbSNP:rs289363884 PublicationsEnsembl.1
Natural variantiVAR_039490215L → P in GTLMNS. Corresponds to variant dbSNP:rs7805943611 PublicationEnsembl.1
Natural variantiVAR_039491226A → T in GTLMNS. Corresponds to variant dbSNP:rs7747532021 PublicationEnsembl.1
Natural variantiVAR_039492230G → D in GTLMNS. Corresponds to variant dbSNP:rs3759900841 PublicationEnsembl.1
Natural variantiVAR_075943235T → R in GTLMNS. 1 Publication1
Natural variantiVAR_075944259D → N in GTLMNS. Corresponds to variant dbSNP:rs7804616391 PublicationEnsembl.1
Natural variantiVAR_039493261R → H in GTLMNS. 1 Publication1
Natural variantiVAR_039494264A → G. Corresponds to variant dbSNP:rs15299275 PublicationsEnsembl.1
Natural variantiVAR_075945272L → P in GTLMNS. Corresponds to variant dbSNP:rs5685131061 PublicationEnsembl.1
Natural variantiVAR_039495283S → Y in GTLMNS. 1 Publication1
Natural variantiVAR_039496284K → R in GTLMNS. 1 Publication1
Natural variantiVAR_075946304T → M in GTLMNS. Corresponds to variant dbSNP:rs7550694361 PublicationEnsembl.1
Natural variantiVAR_039497304T → P in GTLMNS. Corresponds to variant dbSNP:rs7538402832 PublicationsEnsembl.1
Natural variantiVAR_039498313A → V in GTLMNS. Corresponds to variant dbSNP:rs1405517192 PublicationsEnsembl.1
Natural variantiVAR_039499316G → V in GTLMNS. Corresponds to variant dbSNP:rs7489208851 PublicationEnsembl.1
Natural variantiVAR_039500321R → W in GTLMNS. Corresponds to variant dbSNP:rs1500466612 PublicationsEnsembl.1
Natural variantiVAR_039501334R → W in GTLMNS. Corresponds to variant dbSNP:rs7707021942 PublicationsEnsembl.1
Natural variantiVAR_039502342G → A in GTLMNS. 1 Publication1
Natural variantiVAR_007114349P → L in GTLMNS. Corresponds to variant dbSNP:rs1219093832 PublicationsEnsembl.1