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Protein

Sodium/potassium-transporting ATPase subunit alpha-3

Gene

ATP1A3

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

Functioni

This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.

Catalytic activityi

ATP + H2O + Na+(In) + K+(Out) = ADP + phosphate + Na+(Out) + K+(In).

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei366 – 36614-aspartylphosphate intermediateBy similarity
Metal bindingi707 – 7071MagnesiumBy similarity
Metal bindingi711 – 7111MagnesiumBy similarity

GO - Molecular functioni

  • ATP binding Source: UniProtKB
  • chaperone binding Source: BHF-UCL
  • metal ion binding Source: UniProtKB-KW
  • sodium:potassium-exchanging ATPase activity Source: UniProtKB
  • sodium:potassium-exchanging ATPase activity involved in regulation of cardiac muscle cell membrane potential Source: Ensembl
  • steroid hormone binding Source: BHF-UCL

GO - Biological processi

  • adult locomotory behavior Source: Ensembl
  • ATP hydrolysis coupled proton transport Source: GO_Central
  • cardiac muscle contraction Source: Ensembl
  • cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
  • cellular potassium ion homeostasis Source: BHF-UCL
  • cellular response to steroid hormone stimulus Source: BHF-UCL
  • cellular sodium ion homeostasis Source: BHF-UCL
  • ionotropic glutamate receptor signaling pathway Source: Ensembl
  • ion transmembrane transport Source: Reactome
  • memory Source: Ensembl
  • potassium ion import Source: BHF-UCL
  • regulation of cardiac conduction Source: Reactome
  • response to drug Source: Ensembl
  • response to glycoside Source: BHF-UCL
  • sodium ion export from cell Source: BHF-UCL
  • visual learning Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Ion transport, Potassium transport, Sodium transport, Sodium/potassium transport, Transport

Keywords - Ligandi

ATP-binding, Magnesium, Metal-binding, Nucleotide-binding, Potassium, Sodium

Enzyme and pathway databases

ReactomeiR-HSA-5578775. Ion homeostasis.
R-HSA-936837. Ion transport by P-type ATPases.

Protein family/group databases

TCDBi3.A.3.1.1. the p-type atpase (p-atpase) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium/potassium-transporting ATPase subunit alpha-3 (EC:3.6.3.9)
Short name:
Na(+)/K(+) ATPase alpha-3 subunit
Alternative name(s):
Na(+)/K(+) ATPase alpha(III) subunit
Sodium pump subunit alpha-3
Gene namesi
Name:ATP1A3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:801. ATP1A3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 7777CytoplasmicSequence analysisAdd
BLAST
Transmembranei78 – 9821HelicalSequence analysisAdd
BLAST
Topological domaini99 – 12123ExtracellularSequence analysisAdd
BLAST
Transmembranei122 – 14221HelicalSequence analysisAdd
BLAST
Topological domaini143 – 278136CytoplasmicSequence analysisAdd
BLAST
Transmembranei279 – 29820HelicalSequence analysisAdd
BLAST
Topological domaini299 – 31012ExtracellularSequence analysisAdd
BLAST
Transmembranei311 – 32818HelicalSequence analysisAdd
BLAST
Topological domaini329 – 762434CytoplasmicSequence analysisAdd
BLAST
Transmembranei763 – 78220HelicalSequence analysisAdd
BLAST
Topological domaini783 – 79210ExtracellularSequence analysis
Transmembranei793 – 81321HelicalSequence analysisAdd
BLAST
Topological domaini814 – 83320CytoplasmicSequence analysisAdd
BLAST
Transmembranei834 – 85623HelicalSequence analysisAdd
BLAST
Topological domaini857 – 90852ExtracellularSequence analysisAdd
BLAST
Transmembranei909 – 92820HelicalSequence analysisAdd
BLAST
Topological domaini929 – 94113CytoplasmicSequence analysisAdd
BLAST
Transmembranei942 – 96019HelicalSequence analysisAdd
BLAST
Topological domaini961 – 97515ExtracellularSequence analysisAdd
BLAST
Transmembranei976 – 99621HelicalSequence analysisAdd
BLAST
Topological domaini997 – 101317CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • axon Source: Ensembl
  • dendritic spine head Source: Ensembl
  • dendritic spine neck Source: Ensembl
  • endoplasmic reticulum Source: UniProtKB
  • extracellular vesicle Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • integral component of membrane Source: UniProtKB
  • myelin sheath Source: Ensembl
  • nucleus Source: Ensembl
  • plasma membrane Source: UniProtKB
  • sarcolemma Source: Ensembl
  • sodium:potassium-exchanging ATPase complex Source: UniProtKB
  • synapse Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Dystonia 12 (DYT12)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability.
See also OMIM:128235
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti274 – 2741I → T in DYT12. 1 Publication
Corresponds to variant rs80356532 [ dbSNP | Ensembl ].
VAR_026735
Natural varianti277 – 2771E → K in DYT12. 1 Publication
Corresponds to variant rs80356533 [ dbSNP | Ensembl ].
VAR_026736
Natural varianti613 – 6131T → M in DYT12. 1 Publication
Corresponds to variant rs80356534 [ dbSNP | Ensembl ].
VAR_026737
Natural varianti758 – 7581I → S in DYT12. 1 Publication
Corresponds to variant rs80356535 [ dbSNP | Ensembl ].
VAR_026738
Natural varianti780 – 7801F → L in DYT12. 1 Publication
Corresponds to variant rs80356536 [ dbSNP | Ensembl ].
VAR_026739
Natural varianti801 – 8011D → Y in DYT12. 1 Publication
Corresponds to variant rs80356537 [ dbSNP | Ensembl ].
VAR_026740
Natural varianti923 – 9231D → N in DYT12. 1 Publication
Corresponds to variant rs267606670 [ dbSNP | Ensembl ].
VAR_068949
Natural varianti1013 – 10131Y → YY in DYT12; there is a drastic 40-to 50-fold reduction in Na(+) affinity in the mutant protein. 1 Publication
VAR_068953
Alternating hemiplegia of childhood 2 (AHC2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age.
See also OMIM:614820
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371S → F in AHC2. 1 Publication
Corresponds to variant rs542652468 [ dbSNP | Ensembl ].
VAR_068935
Natural varianti137 – 1371S → Y in AHC2. 1 Publication
Corresponds to variant rs542652468 [ dbSNP | Ensembl ].
VAR_068936
Natural varianti140 – 1401Q → L in AHC2. 1 Publication
Corresponds to variant rs606231427 [ dbSNP | Ensembl ].
VAR_068937
Natural varianti220 – 2201D → N in AHC2. 1 Publication
VAR_068938
Natural varianti274 – 2741I → N in AHC2. 2 Publications
Corresponds to variant rs80356532 [ dbSNP | Ensembl ].
VAR_068939
Natural varianti322 – 3221V → D in AHC2. 1 Publication
Corresponds to variant rs606231428 [ dbSNP | Ensembl ].
VAR_070767
Natural varianti333 – 3331C → F in AHC2. 1 Publication
Corresponds to variant rs606231430 [ dbSNP | Ensembl ].
VAR_068940
Natural varianti371 – 3711L → P in AHC2. 1 Publication
Corresponds to variant rs606231433 [ dbSNP | Ensembl ].
VAR_070768
Natural varianti755 – 7551G → C in AHC2. 2 Publications
Corresponds to variant rs557052809 [ dbSNP | Ensembl ].
VAR_070769
Natural varianti755 – 7551G → S in AHC2. 1 Publication
Corresponds to variant rs557052809 [ dbSNP | Ensembl ].
VAR_068941
Natural varianti772 – 7721S → R in AHC2. 1 Publication
Corresponds to variant rs534926223 [ dbSNP | Ensembl ].
VAR_070770
Natural varianti773 – 7731N → I in AHC2. 1 Publication
Corresponds to variant rs606231437 [ dbSNP | Ensembl ].
VAR_070771
Natural varianti773 – 7731N → S in AHC2. 1 Publication
Corresponds to variant rs606231437 [ dbSNP | Ensembl ].
VAR_068942
Natural varianti801 – 8011D → N in AHC2; protein levels is similar to wild-type but the enzyme activity is significantly decreased. 3 Publications
Corresponds to variant rs80356537 [ dbSNP | Ensembl ].
VAR_068943
Natural varianti806 – 8061M → R in AHC2. 1 Publication
Corresponds to variant rs549006436 [ dbSNP | Ensembl ].
VAR_068944
Natural varianti810 – 8101I → S in AHC2. 1 Publication
Corresponds to variant rs536681257 [ dbSNP | Ensembl ].
VAR_068945
Natural varianti811 – 8111S → P in AHC2; protein levels is similar to wild-type but the enzyme activity is significantly decreased. 1 Publication
Corresponds to variant rs387907282 [ dbSNP | Ensembl ].
VAR_068946
Natural varianti815 – 8151E → K in AHC2; protein levels is similar to wild-type but the enzyme activity is significantly decreased. 3 Publications
Corresponds to variant rs387907281 [ dbSNP | Ensembl ].
VAR_068947
Natural varianti919 – 9191Missing in AHC2. 1 Publication
VAR_068948
Natural varianti923 – 9231D → Y in AHC2. 1 Publication
Corresponds to variant rs267606670 [ dbSNP | Ensembl ].
VAR_070773
Natural varianti927 – 9271C → Y in AHC2.
Corresponds to variant rs606231444 [ dbSNP | Ensembl ].
VAR_070774
Natural varianti947 – 9471G → R in AHC2. 1 Publication
Corresponds to variant rs398122887 [ dbSNP | Ensembl ].
VAR_068950
Natural varianti955 – 9551A → D in AHC2. 1 Publication
Corresponds to variant rs606231446 [ dbSNP | Ensembl ].
VAR_068951
Natural varianti992 – 9921D → Y in AHC2. 1 Publication
Corresponds to variant rs606231447 [ dbSNP | Ensembl ].
VAR_068952
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies.
See also OMIM:601338
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti818 – 8181E → K in CAPOS. 1 Publication
Corresponds to variant rs587777771 [ dbSNP | Ensembl ].
VAR_070772

Keywords - Diseasei

Deafness, Disease mutation, Dystonia, Parkinsonism

Organism-specific databases

MalaCardsiATP1A3.
MIMi128235. phenotype.
601338. phenotype.
614820. phenotype.
Orphaneti2131. Alternating hemiplegia of childhood.
1171. Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss.
71517. Rapid-onset dystonia-parkinsonism.
PharmGKBiPA64.

Chemistry

ChEMBLiCHEMBL2095186.

Polymorphism and mutation databases

BioMutaiATP1A3.
DMDMi116241260.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10131013Sodium/potassium-transporting ATPase subunit alpha-3PRO_0000046298Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei37 – 371PhosphoserineBy similarity
Modified residuei56 – 561PhosphoserineBy similarity
Modified residuei218 – 2181PhosphoserineBy similarity
Modified residuei265 – 2651PhosphoserineBy similarity
Modified residuei442 – 4421PhosphoserineBy similarity
Modified residuei548 – 5481PhosphotyrosineBy similarity
Modified residuei580 – 5801PhosphoserineBy similarity
Modified residuei665 – 6651PhosphoserineBy similarity
Modified residuei819 – 8191PhosphoserineBy similarity
Modified residuei933 – 9331Phosphoserine; by PKABy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP13637.
MaxQBiP13637.
PaxDbiP13637.
PeptideAtlasiP13637.
PRIDEiP13637.

PTM databases

iPTMnetiP13637.
PhosphoSiteiP13637.
SwissPalmiP13637.

Expressioni

Gene expression databases

BgeeiENSG00000105409.
CleanExiHS_ATP1A3.
ExpressionAtlasiP13637. baseline and differential.
GenevisibleiP13637. HS.

Organism-specific databases

HPAiCAB033630.
HPA045367.
HPA056446.

Interactioni

Subunit structurei

Composed of three subunits: alpha (catalytic), beta and gamma.

GO - Molecular functioni

  • chaperone binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi106968. 37 interactions.
IntActiP13637. 6 interactions.
MINTiMINT-2857038.
STRINGi9606.ENSP00000302397.

Structurei

3D structure databases

ProteinModelPortaliP13637.
SMRiP13637. Positions 20-1013.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni72 – 743Interaction with phosphoinositide-3 kinaseBy similarity

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0203. Eukaryota.
COG0474. LUCA.
GeneTreeiENSGT00840000129739.
HOGENOMiHOG000265622.
HOVERGENiHBG004298.
InParanoidiP13637.
KOiK01539.
OrthoDBiEOG091G01BB.
PhylomeDBiP13637.
TreeFamiTF312838.

Family and domain databases

Gene3Di1.20.1110.10. 2 hits.
2.70.150.10. 2 hits.
3.40.1110.10. 1 hit.
InterProiIPR006068. ATPase_P-typ_cation-transptr_C.
IPR004014. ATPase_P-typ_cation-transptr_N.
IPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR023298. ATPase_P-typ_TM_dom.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR023214. HAD-like_dom.
IPR005775. P-type_ATPase_IIC.
IPR001757. P_typ_ATPase.
[Graphical view]
PfamiPF00689. Cation_ATPase_C. 1 hit.
PF00690. Cation_ATPase_N. 1 hit.
PF00122. E1-E2_ATPase. 1 hit.
[Graphical view]
SMARTiSM00831. Cation_ATPase_N. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 1 hit.
TIGRFAMsiTIGR01106. ATPase-IIC_X-K. 1 hit.
TIGR01494. ATPase_P-type. 2 hits.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: P13637-1) [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
MGDKKDDKDS PKKNKGKERR DLDDLKKEVA MTEHKMSVEE VCRKYNTDCV
60 70 80 90 100
QGLTHSKAQE ILARDGPNAL TPPPTTPEWV KFCRQLFGGF SILLWIGAIL
110 120 130 140 150
CFLAYGIQAG TEDDPSGDNL YLGIVLAAVV IITGCFSYYQ EAKSSKIMES
160 170 180 190 200
FKNMVPQQAL VIREGEKMQV NAEEVVVGDL VEIKGGDRVP ADLRIISAHG
210 220 230 240 250
CKVDNSSLTG ESEPQTRSPD CTHDNPLETR NITFFSTNCV EGTARGVVVA
260 270 280 290 300
TGDRTVMGRI ATLASGLEVG KTPIAIEIEH FIQLITGVAV FLGVSFFILS
310 320 330 340 350
LILGYTWLEA VIFLIGIIVA NVPEGLLATV TVCLTLTAKR MARKNCLVKN
360 370 380 390 400
LEAVETLGST STICSDKTGT LTQNRMTVAH MWFDNQIHEA DTTEDQSGTS
410 420 430 440 450
FDKSSHTWVA LSHIAGLCNR AVFKGGQDNI PVLKRDVAGD ASESALLKCI
460 470 480 490 500
ELSSGSVKLM RERNKKVAEI PFNSTNKYQL SIHETEDPND NRYLLVMKGA
510 520 530 540 550
PERILDRCST ILLQGKEQPL DEEMKEAFQN AYLELGGLGE RVLGFCHYYL
560 570 580 590 600
PEEQFPKGFA FDCDDVNFTT DNLCFVGLMS MIDPPRAAVP DAVGKCRSAG
610 620 630 640 650
IKVIMVTGDH PITAKAIAKG VGIISEGNET VEDIAARLNI PVSQVNPRDA
660 670 680 690 700
KACVIHGTDL KDFTSEQIDE ILQNHTEIVF ARTSPQQKLI IVEGCQRQGA
710 720 730 740 750
IVAVTGDGVN DSPALKKADI GVAMGIAGSD VSKQAADMIL LDDNFASIVT
760 770 780 790 800
GVEEGRLIFD NLKKSIAYTL TSNIPEITPF LLFIMANIPL PLGTITILCI
810 820 830 840 850
DLGTDMVPAI SLAYEAAESD IMKRQPRNPR TDKLVNERLI SMAYGQIGMI
860 870 880 890 900
QALGGFFSYF VILAENGFLP GNLVGIRLNW DDRTVNDLED SYGQQWTYEQ
910 920 930 940 950
RKVVEFTCHT AFFVSIVVVQ WADLIICKTR RNSVFQQGMK NKILIFGLFE
960 970 980 990 1000
ETALAAFLSY CPGMDVALRM YPLKPSWWFC AFPYSFLIFV YDEIRKLILR
1010
RNPGGWVEKE TYY
Length:1,013
Mass (Da):111,749
Last modified:October 17, 2006 - v3
Checksum:iBF28CD9F1E11AF48
GO
Isoform 2 (identifier: P13637-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2: MG → MGGWEEERNRRAT

Show »
Length:1,024
Mass (Da):113,134
Checksum:iD6F4310E7B68C1D1
GO
Isoform 3 (identifier: P13637-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2: MG → MGSGGSDSYRIATSQ

Show »
Length:1,026
Mass (Da):113,059
Checksum:i50F72BDBADD90225
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1 – 22MG → MEIH in CAA31390 (PubMed:2834163).Curated
Sequence conflicti144 – 1441S → R in BAH12387 (PubMed:14702039).Curated
Sequence conflicti336 – 3361L → V in AAA51798 (PubMed:2838329).Curated
Sequence conflicti336 – 3361L → V in CAA31390 (PubMed:2834163).Curated
Sequence conflicti336 – 3361L → V in AAA52285 (PubMed:3030810).Curated
Sequence conflicti336 – 3361L → V in AAA58380 (PubMed:3036582).Curated
Sequence conflicti380 – 3801H → T in AAA52285 (PubMed:3030810).Curated
Sequence conflicti421 – 4211A → P in AAA58380 (PubMed:3036582).Curated
Sequence conflicti430 – 4301I → M in CAA31390 (PubMed:2834163).Curated
Sequence conflicti555 – 5573FPK → YPQ in AAA51798 (PubMed:2838329).Curated
Sequence conflicti555 – 5573FPK → YPQ in CAA31390 (PubMed:2834163).Curated
Sequence conflicti555 – 5573FPK → YPQ in AAA52286 (PubMed:3030810).Curated
Sequence conflicti577 – 5771G → P in AAA51798 (PubMed:2838329).Curated
Sequence conflicti583 – 5831D → G in AAA51798 (PubMed:2838329).Curated
Sequence conflicti583 – 5831D → G in CAA31390 (PubMed:2834163).Curated
Sequence conflicti583 – 5831D → G in AAA52286 (PubMed:3030810).Curated
Sequence conflicti919 – 9191V → A in AAA52286 (PubMed:3030810).Curated
Sequence conflicti944 – 9441L → M in AAA52286 (PubMed:3030810).Curated
Sequence conflicti982 – 9821F → S in CAA31390 (PubMed:2834163).Curated
Sequence conflicti1006 – 10061W → S in AAA51798 (PubMed:2838329).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371S → F in AHC2. 1 Publication
Corresponds to variant rs542652468 [ dbSNP | Ensembl ].
VAR_068935
Natural varianti137 – 1371S → Y in AHC2. 1 Publication
Corresponds to variant rs542652468 [ dbSNP | Ensembl ].
VAR_068936
Natural varianti140 – 1401Q → L in AHC2. 1 Publication
Corresponds to variant rs606231427 [ dbSNP | Ensembl ].
VAR_068937
Natural varianti220 – 2201D → N in AHC2. 1 Publication
VAR_068938
Natural varianti274 – 2741I → N in AHC2. 2 Publications
Corresponds to variant rs80356532 [ dbSNP | Ensembl ].
VAR_068939
Natural varianti274 – 2741I → T in DYT12. 1 Publication
Corresponds to variant rs80356532 [ dbSNP | Ensembl ].
VAR_026735
Natural varianti277 – 2771E → K in DYT12. 1 Publication
Corresponds to variant rs80356533 [ dbSNP | Ensembl ].
VAR_026736
Natural varianti322 – 3221V → D in AHC2. 1 Publication
Corresponds to variant rs606231428 [ dbSNP | Ensembl ].
VAR_070767
Natural varianti333 – 3331C → F in AHC2. 1 Publication
Corresponds to variant rs606231430 [ dbSNP | Ensembl ].
VAR_068940
Natural varianti371 – 3711L → P in AHC2. 1 Publication
Corresponds to variant rs606231433 [ dbSNP | Ensembl ].
VAR_070768
Natural varianti613 – 6131T → M in DYT12. 1 Publication
Corresponds to variant rs80356534 [ dbSNP | Ensembl ].
VAR_026737
Natural varianti755 – 7551G → C in AHC2. 2 Publications
Corresponds to variant rs557052809 [ dbSNP | Ensembl ].
VAR_070769
Natural varianti755 – 7551G → S in AHC2. 1 Publication
Corresponds to variant rs557052809 [ dbSNP | Ensembl ].
VAR_068941
Natural varianti758 – 7581I → S in DYT12. 1 Publication
Corresponds to variant rs80356535 [ dbSNP | Ensembl ].
VAR_026738
Natural varianti772 – 7721S → R in AHC2. 1 Publication
Corresponds to variant rs534926223 [ dbSNP | Ensembl ].
VAR_070770
Natural varianti773 – 7731N → I in AHC2. 1 Publication
Corresponds to variant rs606231437 [ dbSNP | Ensembl ].
VAR_070771
Natural varianti773 – 7731N → S in AHC2. 1 Publication
Corresponds to variant rs606231437 [ dbSNP | Ensembl ].
VAR_068942
Natural varianti780 – 7801F → L in DYT12. 1 Publication
Corresponds to variant rs80356536 [ dbSNP | Ensembl ].
VAR_026739
Natural varianti801 – 8011D → N in AHC2; protein levels is similar to wild-type but the enzyme activity is significantly decreased. 3 Publications
Corresponds to variant rs80356537 [ dbSNP | Ensembl ].
VAR_068943
Natural varianti801 – 8011D → Y in DYT12. 1 Publication
Corresponds to variant rs80356537 [ dbSNP | Ensembl ].
VAR_026740
Natural varianti806 – 8061M → R in AHC2. 1 Publication
Corresponds to variant rs549006436 [ dbSNP | Ensembl ].
VAR_068944
Natural varianti810 – 8101I → S in AHC2. 1 Publication
Corresponds to variant rs536681257 [ dbSNP | Ensembl ].
VAR_068945
Natural varianti811 – 8111S → P in AHC2; protein levels is similar to wild-type but the enzyme activity is significantly decreased. 1 Publication
Corresponds to variant rs387907282 [ dbSNP | Ensembl ].
VAR_068946
Natural varianti815 – 8151E → K in AHC2; protein levels is similar to wild-type but the enzyme activity is significantly decreased. 3 Publications
Corresponds to variant rs387907281 [ dbSNP | Ensembl ].
VAR_068947
Natural varianti818 – 8181E → K in CAPOS. 1 Publication
Corresponds to variant rs587777771 [ dbSNP | Ensembl ].
VAR_070772
Natural varianti919 – 9191Missing in AHC2. 1 Publication
VAR_068948
Natural varianti923 – 9231D → N in DYT12. 1 Publication
Corresponds to variant rs267606670 [ dbSNP | Ensembl ].
VAR_068949
Natural varianti923 – 9231D → Y in AHC2. 1 Publication
Corresponds to variant rs267606670 [ dbSNP | Ensembl ].
VAR_070773
Natural varianti927 – 9271C → Y in AHC2.
Corresponds to variant rs606231444 [ dbSNP | Ensembl ].
VAR_070774
Natural varianti947 – 9471G → R in AHC2. 1 Publication
Corresponds to variant rs398122887 [ dbSNP | Ensembl ].
VAR_068950
Natural varianti955 – 9551A → D in AHC2. 1 Publication
Corresponds to variant rs606231446 [ dbSNP | Ensembl ].
VAR_068951
Natural varianti992 – 9921D → Y in AHC2. 1 Publication
Corresponds to variant rs606231447 [ dbSNP | Ensembl ].
VAR_068952
Natural varianti1013 – 10131Y → YY in DYT12; there is a drastic 40-to 50-fold reduction in Na(+) affinity in the mutant protein. 1 Publication
VAR_068953

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 22MG → MGGWEEERNRRAT in isoform 2. 1 PublicationVSP_046956
Alternative sequencei1 – 22MG → MGSGGSDSYRIATSQ in isoform 3. 1 PublicationVSP_046957

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M37457
, M37436, M37437, M37438, M37462, M37439, M37440, M37441, M37442, M37443, M37444, M37445, M37447, M37448, M37449, M37450, M37451, M37452, M37453, M37454, M37455, M37456 Genomic DNA. Translation: AAA51798.1.
X12910
, X12911, X12912, X12913, X12914, X12915, X12916, X12917, X12919, X12920, X12921, X12922, X12923 Genomic DNA. Translation: CAA31390.1.
AK295078 mRNA. Translation: BAH11966.1.
AK296557 mRNA. Translation: BAH12387.1.
AC010616 Genomic DNA. No translation available.
BC009282 mRNA. Translation: AAH09282.1.
BC009394 mRNA. Translation: AAH09394.1.
BC015566 mRNA. Translation: AAH15566.1.
M28286, M28284, M28285 Genomic DNA. Translation: AAA52285.1.
M28293
, M28287, M35821, M35822, M28289, M28290, M28291, M28292 Genomic DNA. Translation: AAA52286.1.
M27577, M27570, M27573 Genomic DNA. Translation: AAA58380.1.
CCDSiCCDS12594.1. [P13637-1]
CCDS58663.1. [P13637-2]
CCDS58664.1. [P13637-3]
PIRiS00801.
RefSeqiNP_001243142.1. NM_001256213.1. [P13637-2]
NP_001243143.1. NM_001256214.1. [P13637-3]
NP_689509.1. NM_152296.4. [P13637-1]
UniGeneiHs.515427.

Genome annotation databases

EnsembliENST00000302102; ENSP00000302397; ENSG00000105409. [P13637-1]
ENST00000543770; ENSP00000437577; ENSG00000105409. [P13637-2]
ENST00000545399; ENSP00000444688; ENSG00000105409. [P13637-3]
GeneIDi478.
KEGGihsa:478.
UCSCiuc002osg.4. human. [P13637-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M37457
, M37436, M37437, M37438, M37462, M37439, M37440, M37441, M37442, M37443, M37444, M37445, M37447, M37448, M37449, M37450, M37451, M37452, M37453, M37454, M37455, M37456 Genomic DNA. Translation: AAA51798.1.
X12910
, X12911, X12912, X12913, X12914, X12915, X12916, X12917, X12919, X12920, X12921, X12922, X12923 Genomic DNA. Translation: CAA31390.1.
AK295078 mRNA. Translation: BAH11966.1.
AK296557 mRNA. Translation: BAH12387.1.
AC010616 Genomic DNA. No translation available.
BC009282 mRNA. Translation: AAH09282.1.
BC009394 mRNA. Translation: AAH09394.1.
BC015566 mRNA. Translation: AAH15566.1.
M28286, M28284, M28285 Genomic DNA. Translation: AAA52285.1.
M28293
, M28287, M35821, M35822, M28289, M28290, M28291, M28292 Genomic DNA. Translation: AAA52286.1.
M27577, M27570, M27573 Genomic DNA. Translation: AAA58380.1.
CCDSiCCDS12594.1. [P13637-1]
CCDS58663.1. [P13637-2]
CCDS58664.1. [P13637-3]
PIRiS00801.
RefSeqiNP_001243142.1. NM_001256213.1. [P13637-2]
NP_001243143.1. NM_001256214.1. [P13637-3]
NP_689509.1. NM_152296.4. [P13637-1]
UniGeneiHs.515427.

3D structure databases

ProteinModelPortaliP13637.
SMRiP13637. Positions 20-1013.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106968. 37 interactions.
IntActiP13637. 6 interactions.
MINTiMINT-2857038.
STRINGi9606.ENSP00000302397.

Chemistry

ChEMBLiCHEMBL2095186.

Protein family/group databases

TCDBi3.A.3.1.1. the p-type atpase (p-atpase) superfamily.

PTM databases

iPTMnetiP13637.
PhosphoSiteiP13637.
SwissPalmiP13637.

Polymorphism and mutation databases

BioMutaiATP1A3.
DMDMi116241260.

Proteomic databases

EPDiP13637.
MaxQBiP13637.
PaxDbiP13637.
PeptideAtlasiP13637.
PRIDEiP13637.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302102; ENSP00000302397; ENSG00000105409. [P13637-1]
ENST00000543770; ENSP00000437577; ENSG00000105409. [P13637-2]
ENST00000545399; ENSP00000444688; ENSG00000105409. [P13637-3]
GeneIDi478.
KEGGihsa:478.
UCSCiuc002osg.4. human. [P13637-1]

Organism-specific databases

CTDi478.
GeneCardsiATP1A3.
GeneReviewsiATP1A3.
HGNCiHGNC:801. ATP1A3.
HPAiCAB033630.
HPA045367.
HPA056446.
MalaCardsiATP1A3.
MIMi128235. phenotype.
182350. gene.
601338. phenotype.
614820. phenotype.
neXtProtiNX_P13637.
Orphaneti2131. Alternating hemiplegia of childhood.
1171. Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss.
71517. Rapid-onset dystonia-parkinsonism.
PharmGKBiPA64.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0203. Eukaryota.
COG0474. LUCA.
GeneTreeiENSGT00840000129739.
HOGENOMiHOG000265622.
HOVERGENiHBG004298.
InParanoidiP13637.
KOiK01539.
OrthoDBiEOG091G01BB.
PhylomeDBiP13637.
TreeFamiTF312838.

Enzyme and pathway databases

ReactomeiR-HSA-5578775. Ion homeostasis.
R-HSA-936837. Ion transport by P-type ATPases.

Miscellaneous databases

ChiTaRSiATP1A3. human.
GeneWikiiATP1A3.
GenomeRNAii478.
PROiP13637.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105409.
CleanExiHS_ATP1A3.
ExpressionAtlasiP13637. baseline and differential.
GenevisibleiP13637. HS.

Family and domain databases

Gene3Di1.20.1110.10. 2 hits.
2.70.150.10. 2 hits.
3.40.1110.10. 1 hit.
InterProiIPR006068. ATPase_P-typ_cation-transptr_C.
IPR004014. ATPase_P-typ_cation-transptr_N.
IPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR023298. ATPase_P-typ_TM_dom.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR023214. HAD-like_dom.
IPR005775. P-type_ATPase_IIC.
IPR001757. P_typ_ATPase.
[Graphical view]
PfamiPF00689. Cation_ATPase_C. 1 hit.
PF00690. Cation_ATPase_N. 1 hit.
PF00122. E1-E2_ATPase. 1 hit.
[Graphical view]
SMARTiSM00831. Cation_ATPase_N. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 1 hit.
TIGRFAMsiTIGR01106. ATPase-IIC_X-K. 1 hit.
TIGR01494. ATPase_P-type. 2 hits.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAT1A3_HUMAN
AccessioniPrimary (citable) accession number: P13637
Secondary accession number(s): B7Z2T0
, B7Z401, F5H6J6, Q16732, Q16735, Q969K5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: October 17, 2006
Last modified: September 7, 2016
This is version 187 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.