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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

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
Complete GO annotation...

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. 2 PublicationsCorresponds to variant rs371443644dbSNPEnsembl.1
Natural variantiVAR_07593162D → H in GTLMNS. 1 PublicationCorresponds to variant rs757490496dbSNPEnsembl.1
Natural variantiVAR_03947662D → N in GTLMNS. 1 Publication1
Natural variantiVAR_03947768E → K in GTLMNS. 1 PublicationCorresponds to variant rs763210286dbSNPEnsembl.1
Natural variantiVAR_03947869H → N in GTLMNS. 1 PublicationCorresponds to variant rs780502516dbSNPEnsembl.1
Natural variantiVAR_07593283R → Q in GTLMNS. 1 PublicationCorresponds to variant rs768527231dbSNPEnsembl.1
Natural variantiVAR_07593383R → W in GTLMNS. 1 PublicationCorresponds to variant rs201255508dbSNPEnsembl.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. 2 PublicationsCorresponds to variant rs146632606dbSNPEnsembl.1
Natural variantiVAR_075935135R → C in GTLMNS. 1 PublicationCorresponds to variant rs749742102dbSNPEnsembl.1
Natural variantiVAR_075936145R → C in GTLMNS. 1 PublicationCorresponds to variant rs148945966dbSNPEnsembl.1
Natural variantiVAR_039480145R → H in GTLMNS. 1 PublicationCorresponds to variant rs374324018dbSNPEnsembl.1
Natural variantiVAR_075937150I → M in GTLMNS. 1 PublicationCorresponds to variant rs143714318dbSNPEnsembl.1
Natural variantiVAR_039481153V → M in GTLMNS. 2 PublicationsCorresponds to variant rs779074538dbSNPEnsembl.1
Natural variantiVAR_039482154I → F in GTLMNS. 1 PublicationCorresponds to variant rs748547209dbSNPEnsembl.1
Natural variantiVAR_075938157L → P in GTLMNS. 1 PublicationCorresponds to variant rs775047246dbSNPEnsembl.1
Natural variantiVAR_075939158R → L in GTLMNS. 1 Publication1
Natural variantiVAR_039483158R → Q in GTLMNS. 1 Publication1
Natural variantiVAR_039484163T → M in GTLMNS. 2 PublicationsCorresponds to variant rs267607050dbSNPEnsembl.1
Natural variantiVAR_075940166A → V in GTLMNS. 1 PublicationCorresponds to variant rs779683214dbSNPEnsembl.1
Natural variantiVAR_039485172W → R in GTLMNS. 2 PublicationsCorresponds to variant rs757792232dbSNPEnsembl.1
Natural variantiVAR_039486178S → L in GTLMNS. 2 PublicationsCorresponds to variant rs772589653dbSNPEnsembl.1
Natural variantiVAR_039487180T → K in GTLMNS. 1 PublicationCorresponds to variant rs146158333dbSNPEnsembl.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. 2 PublicationsCorresponds to variant rs28936388dbSNPEnsembl.1
Natural variantiVAR_007113209R → W in GTLMNS. 4 PublicationsCorresponds to variant rs28936388dbSNPEnsembl.1
Natural variantiVAR_039490215L → P in GTLMNS. 1 PublicationCorresponds to variant rs780594361dbSNPEnsembl.1
Natural variantiVAR_039491226A → T in GTLMNS. 1 PublicationCorresponds to variant rs774753202dbSNPEnsembl.1
Natural variantiVAR_039492230G → D in GTLMNS. 1 PublicationCorresponds to variant rs375990084dbSNPEnsembl.1
Natural variantiVAR_075943235T → R in GTLMNS. 1 Publication1
Natural variantiVAR_075944259D → N in GTLMNS. 1 PublicationCorresponds to variant rs780461639dbSNPEnsembl.1
Natural variantiVAR_039493261R → H in GTLMNS. 1 Publication1
Natural variantiVAR_075945272L → P in GTLMNS. 1 PublicationCorresponds to variant rs568513106dbSNPEnsembl.1
Natural variantiVAR_039495283S → Y in GTLMNS. 1 Publication1
Natural variantiVAR_039496284K → R in GTLMNS. 1 Publication1
Natural variantiVAR_075946304T → M in GTLMNS. 1 PublicationCorresponds to variant rs755069436dbSNPEnsembl.1
Natural variantiVAR_039497304T → P in GTLMNS. 2 PublicationsCorresponds to variant rs753840283dbSNPEnsembl.1
Natural variantiVAR_039498313A → V in GTLMNS. 2 PublicationsCorresponds to variant rs140551719dbSNPEnsembl.1
Natural variantiVAR_039499316G → V in GTLMNS. 1 PublicationCorresponds to variant rs748920885dbSNPEnsembl.1
Natural variantiVAR_039500321R → W in GTLMNS. 2 PublicationsCorresponds to variant rs150046661dbSNPEnsembl.1
Natural variantiVAR_039501334R → W in GTLMNS. 2 PublicationsCorresponds to variant rs770702194dbSNPEnsembl.1
Natural variantiVAR_039502342G → A in GTLMNS. 1 Publication1
Natural variantiVAR_007114349P → L in GTLMNS. 2 PublicationsCorresponds to variant rs121909383dbSNPEnsembl.1
Natural variantiVAR_075947374G → E in GTLMNS. 1 Publication1
Natural variantiVAR_039503374G → V in GTLMNS. 1 PublicationCorresponds to variant rs773669504dbSNPEnsembl.1
Natural variantiVAR_075948382T → M in GTLMNS. 1 PublicationCorresponds to variant rs187885782dbSNPEnsembl.1
Natural variantiVAR_075949392T → I in GTLMNS; complete loss Na(+) uptake activity; partial loss of localization at the plasma membrane. 1 PublicationCorresponds to variant rs748575829dbSNPEnsembl.1
Natural variantiVAR_039504399R → C in GTLMNS. 2 PublicationsCorresponds to variant rs775931992dbSNPEnsembl.1
Natural variantiVAR_007115421C → R in GTLMNS. 1 PublicationCorresponds to variant rs28936387dbSNPEnsembl.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. 4 PublicationsCorresponds to variant rs759377924dbSNPEnsembl.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. 1 PublicationCorresponds to variant rs374163823dbSNPEnsembl.1
Natural variantiVAR_039507464A → T in GTLMNS. 2 PublicationsCorresponds to variant rs201945662dbSNPEnsembl.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. 2 PublicationsCorresponds to variant rs373017321dbSNPEnsembl.1
Natural variantiVAR_039508478K → E in GTLMNS. 1 Publication1
Natural variantiVAR_007116486D → N in GTLMNS. 2 PublicationsCorresponds to variant rs753523115dbSNPEnsembl.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. 2 PublicationsCorresponds to variant rs777612082dbSNPEnsembl.1
Natural variantiVAR_075955507R → C in GTLMNS. 1 PublicationCorresponds to variant rs369510226dbSNPEnsembl.1
Natural variantiVAR_075956523A → T in GTLMNS. 1 PublicationCorresponds to variant rs781137708dbSNPEnsembl.1
Natural variantiVAR_075957534N → S in GTLMNS. 1 PublicationCorresponds to variant rs780433336dbSNPEnsembl.1
Natural variantiVAR_075958536F → L in GTLMNS. 1 PublicationCorresponds to variant rs748650798dbSNPEnsembl.1
Natural variantiVAR_039509542L → P in GTLMNS. 1 PublicationCorresponds to variant rs574357286dbSNPEnsembl.1
Natural variantiVAR_075959546S → G in GTLMNS. 1 Publication1
Natural variantiVAR_039510555S → L in GTLMNS. 2 PublicationsCorresponds to variant rs148038173dbSNPEnsembl.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. 1 PublicationCorresponds to variant rs79351185dbSNPEnsembl.1
Natural variantiVAR_039514578V → M in GTLMNS. 1 PublicationCorresponds to variant rs139329616dbSNPEnsembl.1
Natural variantiVAR_007119588A → V in GTLMNS. 2 PublicationsCorresponds to variant rs121909382dbSNPEnsembl.1
Natural variantiVAR_039515613G → S in GTLMNS. 1 Publication1
Natural variantiVAR_039516615S → L in GTLMNS. 3 PublicationsCorresponds to variant rs779160677dbSNPEnsembl.1
Natural variantiVAR_039517615S → W in GTLMNS. 1 Publication1
Natural variantiVAR_039518623L → P in GTLMNS. 2 PublicationsCorresponds to variant rs121909385dbSNPEnsembl.1
Natural variantiVAR_007120630G → V in GTLMNS. 1 PublicationCorresponds to variant rs28936389dbSNPEnsembl.1
Natural variantiVAR_039519642R → C in GTLMNS. 3 PublicationsCorresponds to variant rs200697179dbSNPEnsembl.1
Natural variantiVAR_039520642R → G in GTLMNS. 3 PublicationsCorresponds to variant rs200697179dbSNPEnsembl.1
Natural variantiVAR_039521642R → H in GTLMNS. 3 PublicationsCorresponds to variant rs147901432dbSNPEnsembl.1
Natural variantiVAR_039522643P → L in GTLMNS. 3 PublicationsCorresponds to variant rs140012781dbSNPEnsembl.1
Natural variantiVAR_075962647V → M in GTLMNS. 1 Publication1
Natural variantiVAR_039523649T → R in GTLMNS. 1 Publication1
Natural variantiVAR_039524655R → C in GTLMNS. 1 PublicationCorresponds to variant rs747249619dbSNPEnsembl.1
Natural variantiVAR_007121655R → H in GTLMNS. 2 PublicationsCorresponds to variant rs121909380dbSNPEnsembl.1
Natural variantiVAR_007122655R → L in GTLMNS. 1 PublicationCorresponds to variant rs121909380dbSNPEnsembl.1
Natural variantiVAR_039525672M → I in GTLMNS. 1 Publication1
Natural variantiVAR_039526677V → L in GTLMNS. 1 Publication1
Natural variantiVAR_039527677V → M in GTLMNS. 1 PublicationCorresponds to variant rs771326058dbSNPEnsembl.1
Natural variantiVAR_075963713I → IKAFYSDVI in GTLMNS. 1 Publication1
Natural variantiVAR_039528729G → V in GTLMNS. 2 PublicationsCorresponds to variant rs373901523dbSNPEnsembl.1
Natural variantiVAR_039529731G → R in GTLMNS. 2 PublicationsCorresponds to variant rs752101663dbSNPEnsembl.1
Natural variantiVAR_075964735P → R in GTLMNS. 1 Publication1
Natural variantiVAR_039530738L → R in GTLMNS. 1 Publication1
Natural variantiVAR_007124741G → R in GTLMNS. 4 PublicationsCorresponds to variant rs138977195dbSNPEnsembl.1
Natural variantiVAR_075965751P → L in GTLMNS; 54% residual Na(+) uptake activity; no effect on localization at the plasma membrane. 1 PublicationCorresponds to variant rs368068353dbSNPEnsembl.1
Natural variantiVAR_075966824S → T in GTLMNS. 1 PublicationCorresponds to variant rs146845953dbSNPEnsembl.1
Natural variantiVAR_075967839D → N in GTLMNS. 1 Publication1
Natural variantiVAR_075968849L → F in GTLMNS. 1 Publication1
Natural variantiVAR_039531849L → H in GTLMNS. 3 PublicationsCorresponds to variant rs185927948dbSNPEnsembl.1
Natural variantiVAR_007125850L → P in GTLMNS. 3 PublicationsCorresponds to variant rs121909379dbSNPEnsembl.1
Natural variantiVAR_039532852R → C in GTLMNS. 3 PublicationsCorresponds to variant rs373899077dbSNPEnsembl.1
Natural variantiVAR_039533852R → H in GTLMNS. 1 PublicationCorresponds to variant rs751929135dbSNPEnsembl.1
Natural variantiVAR_039534852R → S in GTLMNS. 1 Publication1
Natural variantiVAR_075969862R → C in GTLMNS. 1 PublicationCorresponds to variant rs754505583dbSNPEnsembl.1
Natural variantiVAR_039535867G → S in GTLMNS. 1 PublicationCorresponds to variant rs370301695dbSNPEnsembl.1
Natural variantiVAR_039536871R → H in GTLMNS. 1 Publication1
Natural variantiVAR_075970872M → T in GTLMNS. 1 PublicationCorresponds to variant rs752124879dbSNPEnsembl.1
Natural variantiVAR_075971887R → Q in GTLMNS. 1 PublicationCorresponds to variant rs369360334dbSNPEnsembl.1
Natural variantiVAR_075972934R → W in GTLMNS. 1 PublicationCorresponds to variant rs201721269dbSNPEnsembl.1
Natural variantiVAR_075973935R → W in GTLMNS; unknown pathological significance. 1 PublicationCorresponds to variant rs56125220dbSNPEnsembl.1
Natural variantiVAR_007126955R → Q in GTLMNS. 2 PublicationsCorresponds to variant rs202114767dbSNPEnsembl.1
Natural variantiVAR_039539958R → G in GTLMNS. 2 PublicationsCorresponds to variant rs773428143dbSNPEnsembl.1
Natural variantiVAR_075974980G → R in GTLMNS. 1 PublicationCorresponds to variant rs34803727dbSNPEnsembl.1
Natural variantiVAR_039540985C → Y in GTLMNS. 2 PublicationsCorresponds to variant rs199849117dbSNPEnsembl.1
Natural variantiVAR_0759751009R → Q in GTLMNS. 1 PublicationCorresponds to variant rs370175770dbSNPEnsembl.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. 1 PublicationCorresponds to variant rs762026283dbSNPEnsembl.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.
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. 2 PublicationsCorresponds to variant rs371443644dbSNPEnsembl.1
Natural variantiVAR_07593162D → H in GTLMNS. 1 PublicationCorresponds to variant rs757490496dbSNPEnsembl.1
Natural variantiVAR_03947662D → N in GTLMNS. 1 Publication1
Natural variantiVAR_03947768E → K in GTLMNS. 1 PublicationCorresponds to variant rs763210286dbSNPEnsembl.1
Natural variantiVAR_03947869H → N in GTLMNS. 1 PublicationCorresponds to variant rs780502516dbSNPEnsembl.1
Natural variantiVAR_07593283R → Q in GTLMNS. 1 PublicationCorresponds to variant rs768527231dbSNPEnsembl.1
Natural variantiVAR_07593383R → W in GTLMNS. 1 PublicationCorresponds to variant rs201255508dbSNPEnsembl.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. 2 PublicationsCorresponds to variant rs146632606dbSNPEnsembl.1
Natural variantiVAR_075935135R → C in GTLMNS. 1 PublicationCorresponds to variant rs749742102dbSNPEnsembl.1
Natural variantiVAR_075936145R → C in GTLMNS. 1 PublicationCorresponds to variant rs148945966dbSNPEnsembl.1
Natural variantiVAR_039480145R → H in GTLMNS. 1 PublicationCorresponds to variant rs374324018dbSNPEnsembl.1
Natural variantiVAR_075937150I → M in GTLMNS. 1 PublicationCorresponds to variant rs143714318dbSNPEnsembl.1
Natural variantiVAR_039481153V → M in GTLMNS. 2 PublicationsCorresponds to variant rs779074538dbSNPEnsembl.1
Natural variantiVAR_039482154I → F in GTLMNS. 1 PublicationCorresponds to variant rs748547209dbSNPEnsembl.1
Natural variantiVAR_075938157L → P in GTLMNS. 1 PublicationCorresponds to variant rs775047246dbSNPEnsembl.1
Natural variantiVAR_075939158R → L in GTLMNS. 1 Publication1
Natural variantiVAR_039483158R → Q in GTLMNS. 1 Publication1
Natural variantiVAR_039484163T → M in GTLMNS. 2 PublicationsCorresponds to variant rs267607050dbSNPEnsembl.1
Natural variantiVAR_075940166A → V in GTLMNS. 1 PublicationCorresponds to variant rs779683214dbSNPEnsembl.1
Natural variantiVAR_039485172W → R in GTLMNS. 2 PublicationsCorresponds to variant rs757792232dbSNPEnsembl.1
Natural variantiVAR_039486178S → L in GTLMNS. 2 PublicationsCorresponds to variant rs772589653dbSNPEnsembl.1
Natural variantiVAR_039487180T → K in GTLMNS. 1 PublicationCorresponds to variant rs146158333dbSNPEnsembl.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. 2 PublicationsCorresponds to variant rs28936388dbSNPEnsembl.1
Natural variantiVAR_007113209R → W in GTLMNS. 4 PublicationsCorresponds to variant rs28936388dbSNPEnsembl.1
Natural variantiVAR_039490215L → P in GTLMNS. 1 PublicationCorresponds to variant rs780594361dbSNPEnsembl.1
Natural variantiVAR_039491226A → T in GTLMNS. 1 PublicationCorresponds to variant rs774753202dbSNPEnsembl.1
Natural variantiVAR_039492230G → D in GTLMNS. 1 PublicationCorresponds to variant rs375990084dbSNPEnsembl.1
Natural variantiVAR_075943235T → R in GTLMNS. 1 Publication1
Natural variantiVAR_075944259D → N in GTLMNS. 1 PublicationCorresponds to variant rs780461639dbSNPEnsembl.1
Natural variantiVAR_039493261R → H in GTLMNS. 1 Publication1
Natural variantiVAR_039494264A → G.5 PublicationsCorresponds to variant rs1529927dbSNPEnsembl.1
Natural variantiVAR_075945272L → P in GTLMNS. 1 PublicationCorresponds to variant rs568513106dbSNPEnsembl.1
Natural variantiVAR_039495283S → Y in GTLMNS. 1 Publication1
Natural variantiVAR_039496284K → R in GTLMNS. 1 Publication1
Natural variantiVAR_075946304T → M in GTLMNS. 1 PublicationCorresponds to variant rs755069436dbSNPEnsembl.1
Natural variantiVAR_039497304T → P in GTLMNS. 2 PublicationsCorresponds to variant rs753840283dbSNPEnsembl.1
Natural variantiVAR_039498313A → V in GTLMNS. 2 PublicationsCorresponds to variant rs140551719dbSNPEnsembl.1
Natural variantiVAR_039499316G → V in GTLMNS. 1 PublicationCorresponds to variant rs748920885dbSNPEnsembl.1
Natural variantiVAR_039500321R → W in GTLMNS. 2 PublicationsCorresponds to variant rs150046661dbSNPEnsembl.1
Natural variantiVAR_039501334R → W in GTLMNS. 2 PublicationsCorresponds to variant rs770702194dbSNPEnsembl.1
Natural variantiVAR_039502342G → A in GTLMNS. 1 Publication1
Natural variantiVAR_007114349P → L in GTLMNS. 2 Publications