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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)DescriptionActionsGraphical viewLength
Active sitei3664-aspartylphosphate intermediateBy similarity1
Metal bindingi707MagnesiumBy similarity1
Metal bindingi711MagnesiumBy similarity1

GO - Molecular functioni

  • amyloid-beta binding Source: ARUK-UCL
  • ATP binding Source: UniProtKB
  • chaperone binding Source: BHF-UCL
  • D1 dopamine receptor binding Source: Ensembl
  • heparan sulfate proteoglycan binding Source: Ensembl
  • metal ion binding Source: UniProtKB-KW
  • sodium:potassium-exchanging ATPase activity Source: BHF-UCL
  • 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
  • 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 amyloid-beta Source: ARUK-UCL
  • cellular response to retinoic acid Source: Ensembl
  • cellular response to steroid hormone stimulus Source: BHF-UCL
  • cellular response to thyroid hormone stimulus Source: Ensembl
  • cellular sodium ion homeostasis Source: BHF-UCL
  • cerebral cortex development Source: Ensembl
  • ionotropic glutamate receptor signaling pathway Source: Ensembl
  • ion transmembrane transport Source: Reactome
  • memory Source: Ensembl
  • neuron projection maintenance Source: ARUK-UCL
  • potassium ion import Source: BHF-UCL
  • regulation of cardiac conduction Source: Reactome
  • regulation of resting membrane potential Source: ARUK-UCL
  • response to drug Source: Ensembl
  • response to glycoside Source: BHF-UCL
  • sodium ion export from cell Source: BHF-UCL
  • visual learning Source: Ensembl

Keywordsi

Molecular functionHydrolase
Biological processIon transport, Potassium transport, Sodium transport, Sodium/potassium transport, Transport
LigandATP-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

EuPathDBiHostDB:ENSG00000105409.15.
HGNCiHGNC:801. ATP1A3.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 77CytoplasmicSequence analysisAdd BLAST77
Transmembranei78 – 98HelicalSequence analysisAdd BLAST21
Topological domaini99 – 121ExtracellularSequence analysisAdd BLAST23
Transmembranei122 – 142HelicalSequence analysisAdd BLAST21
Topological domaini143 – 278CytoplasmicSequence analysisAdd BLAST136
Transmembranei279 – 298HelicalSequence analysisAdd BLAST20
Topological domaini299 – 310ExtracellularSequence analysisAdd BLAST12
Transmembranei311 – 328HelicalSequence analysisAdd BLAST18
Topological domaini329 – 762CytoplasmicSequence analysisAdd BLAST434
Transmembranei763 – 782HelicalSequence analysisAdd BLAST20
Topological domaini783 – 792ExtracellularSequence analysis10
Transmembranei793 – 813HelicalSequence analysisAdd BLAST21
Topological domaini814 – 833CytoplasmicSequence analysisAdd BLAST20
Transmembranei834 – 856HelicalSequence analysisAdd BLAST23
Topological domaini857 – 908ExtracellularSequence analysisAdd BLAST52
Transmembranei909 – 928HelicalSequence analysisAdd BLAST20
Topological domaini929 – 941CytoplasmicSequence analysisAdd BLAST13
Transmembranei942 – 960HelicalSequence analysisAdd BLAST19
Topological domaini961 – 975ExtracellularSequence analysisAdd BLAST15
Transmembranei976 – 996HelicalSequence analysisAdd BLAST21
Topological domaini997 – 1013CytoplasmicSequence analysisAdd BLAST17

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_026735274I → T in DYT12. 1 PublicationCorresponds to variant dbSNP:rs80356532Ensembl.1
Natural variantiVAR_026736277E → K in DYT12. 1 PublicationCorresponds to variant dbSNP:rs80356533Ensembl.1
Natural variantiVAR_026737613T → M in DYT12. 1 PublicationCorresponds to variant dbSNP:rs80356534Ensembl.1
Natural variantiVAR_026738758I → S in DYT12. 1 PublicationCorresponds to variant dbSNP:rs80356535Ensembl.1
Natural variantiVAR_026739780F → L in DYT12. 1 PublicationCorresponds to variant dbSNP:rs80356536Ensembl.1
Natural variantiVAR_026740801D → Y in DYT12. 1 PublicationCorresponds to variant dbSNP:rs80356537Ensembl.1
Natural variantiVAR_068949923D → N in DYT12. 1 PublicationCorresponds to variant dbSNP:rs267606670Ensembl.1
Natural variantiVAR_0689531013Y → YY in DYT12; there is a drastic 40-to 50-fold reduction in Na(+) affinity in the mutant protein. 1 Publication1
Alternating hemiplegia of childhood 2 (AHC2)4 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_068935137S → F in AHC2. 1 PublicationCorresponds to variant dbSNP:rs542652468Ensembl.1
Natural variantiVAR_068936137S → Y in AHC2. 1 PublicationCorresponds to variant dbSNP:rs542652468Ensembl.1
Natural variantiVAR_068937140Q → L in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231427Ensembl.1
Natural variantiVAR_068938220D → N in AHC2. 1 Publication1
Natural variantiVAR_068939274I → N in AHC2. 2 PublicationsCorresponds to variant dbSNP:rs80356532Ensembl.1
Natural variantiVAR_070767322V → D in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231428Ensembl.1
Natural variantiVAR_068940333C → F in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231430Ensembl.1
Natural variantiVAR_070768371L → P in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231433Ensembl.1
Natural variantiVAR_070769755G → C in AHC2. 2 PublicationsCorresponds to variant dbSNP:rs557052809Ensembl.1
Natural variantiVAR_068941755G → S in AHC2. 1 PublicationCorresponds to variant dbSNP:rs557052809Ensembl.1
Natural variantiVAR_070770772S → R in AHC2. 1 PublicationCorresponds to variant dbSNP:rs534926223Ensembl.1
Natural variantiVAR_070771773N → I in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231437Ensembl.1
Natural variantiVAR_068942773N → S in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231437Ensembl.1
Natural variantiVAR_068943801D → N in AHC2; protein levels is similar to wild-type but the enzyme activity is significantly decreased. 3 PublicationsCorresponds to variant dbSNP:rs80356537Ensembl.1
Natural variantiVAR_068944806M → R in AHC2. 1 PublicationCorresponds to variant dbSNP:rs549006436Ensembl.1
Natural variantiVAR_068945810I → S in AHC2. 1 PublicationCorresponds to variant dbSNP:rs536681257Ensembl.1
Natural variantiVAR_068946811S → P in AHC2; protein levels is similar to wild-type but the enzyme activity is significantly decreased. 1 PublicationCorresponds to variant dbSNP:rs387907282Ensembl.1
Natural variantiVAR_068947815E → K in AHC2; protein levels is similar to wild-type but the enzyme activity is significantly decreased. 3 PublicationsCorresponds to variant dbSNP:rs387907281Ensembl.1
Natural variantiVAR_068948919Missing in AHC2. 1 Publication1
Natural variantiVAR_070773923D → Y in AHC2. 1 PublicationCorresponds to variant dbSNP:rs267606670Ensembl.1
Natural variantiVAR_070774927C → Y in AHC2. Corresponds to variant dbSNP:rs606231444Ensembl.1
Natural variantiVAR_068950947G → R in AHC2. 2 PublicationsCorresponds to variant dbSNP:rs398122887Ensembl.1
Natural variantiVAR_068951955A → D in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231446Ensembl.1
Natural variantiVAR_068952992D → Y in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231447Ensembl.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_070772818E → K in CAPOS. 1 PublicationCorresponds to variant dbSNP:rs587777771Ensembl.1

Keywords - Diseasei

Deafness, Disease mutation, Dystonia, Parkinsonism

Organism-specific databases

DisGeNETi478.
GeneReviewsiATP1A3.
MalaCardsiATP1A3.
MIMi128235. phenotype.
601338. phenotype.
614820. phenotype.
OpenTargetsiENSG00000105409.
Orphaneti2131. Alternating hemiplegia of childhood.
1171. Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss.
71517. Rapid-onset dystonia-parkinsonism.
PharmGKBiPA64.

Chemistry databases

ChEMBLiCHEMBL2095186.
DrugBankiDB09479. Rubidium chloride Rb-82.

Polymorphism and mutation databases

BioMutaiATP1A3.
DMDMi116241260.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000462981 – 1013Sodium/potassium-transporting ATPase subunit alpha-3Add BLAST1013

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei37PhosphoserineBy similarity1
Modified residuei56PhosphoserineBy similarity1
Modified residuei218PhosphoserineBy similarity1
Modified residuei265PhosphoserineBy similarity1
Modified residuei442PhosphoserineBy similarity1
Modified residuei548PhosphotyrosineBy similarity1
Modified residuei933Phosphoserine; by PKABy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP13637.
MaxQBiP13637.
PaxDbiP13637.
PeptideAtlasiP13637.
PRIDEiP13637.

PTM databases

iPTMnetiP13637.
PhosphoSitePlusiP13637.
SwissPalmiP13637.

Expressioni

Gene expression databases

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

Organism-specific databases

HPAiCAB033630.
HPA045367.
HPA056446.

Interactioni

Subunit structurei

The sodium/potassium-transporting ATPase is composed of a catalytic alpha subunit, an auxiliary non-catalytic beta subunit and an additional regulatory subunit. Interacts with regulatory subunit FXYD1.By similarity

GO - Molecular functioni

  • chaperone binding Source: BHF-UCL
  • D1 dopamine receptor binding Source: Ensembl
  • heparan sulfate proteoglycan binding Source: Ensembl

Protein-protein interaction databases

BioGridi106968. 47 interactors.
IntActiP13637. 6 interactors.
MINTiMINT-2857038.
STRINGi9606.ENSP00000302397.

Structurei

3D structure databases

ProteinModelPortaliP13637.
SMRiP13637.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni72 – 74Interaction with phosphoinositide-3 kinaseBy similarity3

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0203. Eukaryota.
COG0474. LUCA.
GeneTreeiENSGT00890000139334.
HOGENOMiHOG000265622.
HOVERGENiHBG004298.
InParanoidiP13637.
KOiK01539.
OrthoDBiEOG091G01BB.
PhylomeDBiP13637.
TreeFamiTF312838.

Family and domain databases

CDDicd02608. P-type_ATPase_Na-K_like. 1 hit.
Gene3Di3.40.1110.10. 2 hits.
InterProiView protein in InterPro
IPR006068. ATPase_P-typ_cation-transptr_C.
IPR004014. ATPase_P-typ_cation-transptr_N.
IPR023299. ATPase_P-typ_cyto_dom_N.
IPR018303. ATPase_P-typ_P_site.
IPR023298. ATPase_P-typ_TM_dom_sf.
IPR008250. ATPase_P-typ_transduc_dom_A_sf.
IPR036412. HAD-like_sf.
IPR005775. P-type_ATPase_IIC.
IPR001757. P_typ_ATPase.
PfamiView protein in Pfam
PF00689. Cation_ATPase_C. 1 hit.
PF00690. Cation_ATPase_N. 1 hit.
SMARTiView protein in SMART
SM00831. Cation_ATPase_N. 1 hit.
SUPFAMiSSF56784. SSF56784. 3 hits.
SSF81653. SSF81653. 1 hit.
SSF81660. SSF81660. 1 hit.
SSF81665. SSF81665. 3 hits.
TIGRFAMsiTIGR01106. ATPase-IIC_X-K. 1 hit.
TIGR01494. ATPase_P-type. 2 hits.
PROSITEiView protein in PROSITE
PS00154. ATPASE_E1_E2. 1 hit.

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)DescriptionActionsGraphical viewLength
Sequence conflicti1 – 2MG → MEIH in CAA31390 (PubMed:2834163).Curated2
Sequence conflicti144S → R in BAH12387 (PubMed:14702039).Curated1
Sequence conflicti336L → V in AAA51798 (PubMed:2838329).Curated1
Sequence conflicti336L → V in CAA31390 (PubMed:2834163).Curated1
Sequence conflicti336L → V in AAA52285 (PubMed:3030810).Curated1
Sequence conflicti336L → V in AAA58380 (PubMed:3036582).Curated1
Sequence conflicti380H → T in AAA52285 (PubMed:3030810).Curated1
Sequence conflicti421A → P in AAA58380 (PubMed:3036582).Curated1
Sequence conflicti430I → M in CAA31390 (PubMed:2834163).Curated1
Sequence conflicti555 – 557FPK → YPQ in AAA51798 (PubMed:2838329).Curated3
Sequence conflicti555 – 557FPK → YPQ in CAA31390 (PubMed:2834163).Curated3
Sequence conflicti555 – 557FPK → YPQ in AAA52286 (PubMed:3030810).Curated3
Sequence conflicti577G → P in AAA51798 (PubMed:2838329).Curated1
Sequence conflicti583D → G in AAA51798 (PubMed:2838329).Curated1
Sequence conflicti583D → G in CAA31390 (PubMed:2834163).Curated1
Sequence conflicti583D → G in AAA52286 (PubMed:3030810).Curated1
Sequence conflicti919V → A in AAA52286 (PubMed:3030810).Curated1
Sequence conflicti944L → M in AAA52286 (PubMed:3030810).Curated1
Sequence conflicti982F → S in CAA31390 (PubMed:2834163).Curated1
Sequence conflicti1006W → S in AAA51798 (PubMed:2838329).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068935137S → F in AHC2. 1 PublicationCorresponds to variant dbSNP:rs542652468Ensembl.1
Natural variantiVAR_068936137S → Y in AHC2. 1 PublicationCorresponds to variant dbSNP:rs542652468Ensembl.1
Natural variantiVAR_068937140Q → L in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231427Ensembl.1
Natural variantiVAR_068938220D → N in AHC2. 1 Publication1
Natural variantiVAR_068939274I → N in AHC2. 2 PublicationsCorresponds to variant dbSNP:rs80356532Ensembl.1
Natural variantiVAR_026735274I → T in DYT12. 1 PublicationCorresponds to variant dbSNP:rs80356532Ensembl.1
Natural variantiVAR_026736277E → K in DYT12. 1 PublicationCorresponds to variant dbSNP:rs80356533Ensembl.1
Natural variantiVAR_078699320A → T Probable disease-associated mutation found in a patient with tonic-clonic seizures associated with profound developmental delay and paroxysmal movement disorder. 1 PublicationCorresponds to variant dbSNP:rs879255368Ensembl.1
Natural variantiVAR_070767322V → D in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231428Ensembl.1
Natural variantiVAR_068940333C → F in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231430Ensembl.1
Natural variantiVAR_070768371L → P in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231433Ensembl.1
Natural variantiVAR_026737613T → M in DYT12. 1 PublicationCorresponds to variant dbSNP:rs80356534Ensembl.1
Natural variantiVAR_070769755G → C in AHC2. 2 PublicationsCorresponds to variant dbSNP:rs557052809Ensembl.1
Natural variantiVAR_068941755G → S in AHC2. 1 PublicationCorresponds to variant dbSNP:rs557052809Ensembl.1
Natural variantiVAR_026738758I → S in DYT12. 1 PublicationCorresponds to variant dbSNP:rs80356535Ensembl.1
Natural variantiVAR_070770772S → R in AHC2. 1 PublicationCorresponds to variant dbSNP:rs534926223Ensembl.1
Natural variantiVAR_070771773N → I in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231437Ensembl.1
Natural variantiVAR_068942773N → S in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231437Ensembl.1
Natural variantiVAR_026739780F → L in DYT12. 1 PublicationCorresponds to variant dbSNP:rs80356536Ensembl.1
Natural variantiVAR_068943801D → N in AHC2; protein levels is similar to wild-type but the enzyme activity is significantly decreased. 3 PublicationsCorresponds to variant dbSNP:rs80356537Ensembl.1
Natural variantiVAR_026740801D → Y in DYT12. 1 PublicationCorresponds to variant dbSNP:rs80356537Ensembl.1
Natural variantiVAR_068944806M → R in AHC2. 1 PublicationCorresponds to variant dbSNP:rs549006436Ensembl.1
Natural variantiVAR_068945810I → S in AHC2. 1 PublicationCorresponds to variant dbSNP:rs536681257Ensembl.1
Natural variantiVAR_068946811S → P in AHC2; protein levels is similar to wild-type but the enzyme activity is significantly decreased. 1 PublicationCorresponds to variant dbSNP:rs387907282Ensembl.1
Natural variantiVAR_068947815E → K in AHC2; protein levels is similar to wild-type but the enzyme activity is significantly decreased. 3 PublicationsCorresponds to variant dbSNP:rs387907281Ensembl.1
Natural variantiVAR_070772818E → K in CAPOS. 1 PublicationCorresponds to variant dbSNP:rs587777771Ensembl.1
Natural variantiVAR_068948919Missing in AHC2. 1 Publication1
Natural variantiVAR_068949923D → N in DYT12. 1 PublicationCorresponds to variant dbSNP:rs267606670Ensembl.1
Natural variantiVAR_070773923D → Y in AHC2. 1 PublicationCorresponds to variant dbSNP:rs267606670Ensembl.1
Natural variantiVAR_070774927C → Y in AHC2. Corresponds to variant dbSNP:rs606231444Ensembl.1
Natural variantiVAR_068950947G → R in AHC2. 2 PublicationsCorresponds to variant dbSNP:rs398122887Ensembl.1
Natural variantiVAR_068951955A → D in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231446Ensembl.1
Natural variantiVAR_068952992D → Y in AHC2. 1 PublicationCorresponds to variant dbSNP:rs606231447Ensembl.1
Natural variantiVAR_0689531013Y → YY in DYT12; there is a drastic 40-to 50-fold reduction in Na(+) affinity in the mutant protein. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0469561 – 2MG → MGGWEEERNRRAT in isoform 2. 1 Publication2
Alternative sequenceiVSP_0469571 – 2MG → MGSGGSDSYRIATSQ in isoform 3. 1 Publication2

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

Similar proteinsi

Entry informationi

Entry nameiAT1A3_HUMAN
AccessioniPrimary (citable) accession number: P13637
Secondary accession number(s): B7Z2T0
, B7Z401, F5H6J6, Q16732, Q16735, Q969K5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: October 17, 2006
Last modified: November 22, 2017
This is version 199 of the entry and version 3 of the sequence. See 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