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P50993

- AT1A2_HUMAN

UniProt

P50993 - AT1A2_HUMAN

Protein

Sodium/potassium-transporting ATPase subunit alpha-2

Gene

ATP1A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    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, 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 sitei374 – 37414-aspartylphosphate intermediateBy similarity
    Metal bindingi714 – 7141MagnesiumBy similarity
    Metal bindingi718 – 7181MagnesiumBy similarity

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. metal ion binding Source: UniProtKB-KW
    3. sodium:potassium-exchanging ATPase activity Source: UniProtKB

    GO - Biological processi

    1. adult locomotory behavior Source: Ensembl
    2. ATP biosynthetic process Source: InterPro
    3. ATP hydrolysis coupled proton transport Source: Ensembl
    4. cellular response to mechanical stimulus Source: Ensembl
    5. ion transmembrane transport Source: Reactome
    6. locomotion Source: Ensembl
    7. negative regulation of cytosolic calcium ion concentration Source: Ensembl
    8. negative regulation of heart contraction Source: Ensembl
    9. negative regulation of striated muscle contraction Source: Ensembl
    10. neurotransmitter uptake Source: Ensembl
    11. potassium ion transport Source: UniProtKB
    12. regulation of blood pressure Source: Ensembl
    13. regulation of cardiac muscle cell contraction Source: Ensembl
    14. regulation of respiratory gaseous exchange by neurological system process Source: Ensembl
    15. regulation of smooth muscle contraction Source: Ensembl
    16. regulation of striated muscle contraction Source: UniProtKB
    17. regulation of the force of heart contraction Source: Ensembl
    18. regulation of vasoconstriction Source: Ensembl
    19. response to nicotine Source: Ensembl
    20. sodium ion transmembrane transport Source: GOC
    21. sodium ion transport Source: UniProtKB
    22. transmembrane transport Source: Reactome
    23. visual learning Source: Ensembl

    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

    ReactomeiREACT_25149. 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-2 (EC:3.6.3.9)
    Short name:
    Na(+)/K(+) ATPase alpha-2 subunit
    Alternative name(s):
    Sodium pump subunit alpha-2
    Gene namesi
    Name:ATP1A2
    Synonyms:KIAA0778
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:800. ATP1A2.

    Subcellular locationi

    Membrane 1 Publication; Multi-pass membrane protein 1 Publication. Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. caveola Source: Ensembl
    2. cytoplasm Source: UniProtKB
    3. dendritic spine Source: Ensembl
    4. endosome Source: Ensembl
    5. plasma membrane Source: UniProtKB
    6. sodium:potassium-exchanging ATPase complex Source: UniProtKB
    7. synapse Source: Ensembl
    8. T-tubule Source: Ensembl

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]: A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti689 – 6891R → Q in FHM2. 1 Publication
    Corresponds to variant rs28933401 [ dbSNP | Ensembl ].
    VAR_019935
    Natural varianti715 – 7151G → R in FHM2; de novo mutation in a sporadic case. 1 Publication
    VAR_065685
    Natural varianti731 – 7311M → T in FHM2. 1 Publication
    Corresponds to variant rs28933400 [ dbSNP | Ensembl ].
    VAR_019936
    Natural varianti764 – 7641L → P in FHM2; loss of function. 1 Publication
    Corresponds to variant rs28933398 [ dbSNP | Ensembl ].
    VAR_019937
    Natural varianti874 – 8741G → S in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy. 1 Publication
    VAR_069991
    Natural varianti887 – 8871W → R in FHM2; loss of function. 1 Publication
    Corresponds to variant rs28933399 [ dbSNP | Ensembl ].
    VAR_019938
    Natural varianti1007 – 10071R → W in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy. 1 Publication
    VAR_069992
    Alternating hemiplegia of childhood 1 (AHC1) [MIM:104290]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti378 – 3781T → N in AHC1. 1 Publication
    Corresponds to variant rs28934002 [ dbSNP | Ensembl ].
    VAR_019934

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi104290. phenotype.
    602481. phenotype.
    Orphaneti2131. Alternating hemiplegia of childhood.
    569. Familial or sporadic hemiplegic migraine.
    PharmGKBiPA30796.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Propeptidei1 – 55By similarityPRO_0000002503
    Chaini6 – 10201015Sodium/potassium-transporting ATPase subunit alpha-2PRO_0000002504Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei570 – 5701Phosphothreonine1 Publication
    Modified residuei587 – 5871Phosphoserine1 Publication
    Modified residuei940 – 9401Phosphoserine; by PKABy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiP50993.
    PaxDbiP50993.
    PRIDEiP50993.

    PTM databases

    PhosphoSiteiP50993.

    Expressioni

    Gene expression databases

    ArrayExpressiP50993.
    BgeeiP50993.
    CleanExiHS_ATP1A2.
    GenevestigatoriP50993.

    Organism-specific databases

    HPAiCAB022230.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi106967. 7 interactions.
    IntActiP50993. 1 interaction.
    STRINGi9606.ENSP00000354490.

    Structurei

    3D structure databases

    ProteinModelPortaliP50993.
    SMRiP50993. Positions 28-1020.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini6 – 8580CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini107 – 12923ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini151 – 286136CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini307 – 31812ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini337 – 769433CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini790 – 79910ExtracellularSequence Analysis
    Topological domaini821 – 84020CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini864 – 91552ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini936 – 94813CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini968 – 98215ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1004 – 102017CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei86 – 10621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei130 – 15021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei287 – 30620HelicalSequence AnalysisAdd
    BLAST
    Transmembranei319 – 33618HelicalSequence AnalysisAdd
    BLAST
    Transmembranei770 – 78920HelicalSequence AnalysisAdd
    BLAST
    Transmembranei800 – 82021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei841 – 86323HelicalSequence AnalysisAdd
    BLAST
    Transmembranei916 – 93520HelicalSequence AnalysisAdd
    BLAST
    Transmembranei949 – 96719HelicalSequence AnalysisAdd
    BLAST
    Transmembranei983 – 100321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni80 – 823Interaction with phosphoinositide-3 kinaseBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0474.
    HOGENOMiHOG000265622.
    HOVERGENiHBG004298.
    InParanoidiP50993.
    KOiK01539.
    OMAiIINIPLP.
    OrthoDBiEOG7327N0.
    PhylomeDBiP50993.
    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.
    IPR005775. ATPase_P-typ_Na/K_IIC.
    IPR018303. ATPase_P-typ_P_site.
    IPR023298. ATPase_P-typ_TM_dom.
    IPR008250. ATPase_P-typ_transduc_dom_A.
    IPR001757. Cation_transp_P_typ_ATPase.
    IPR023214. HAD-like_dom.
    [Graphical view]
    PfamiPF00689. Cation_ATPase_C. 1 hit.
    PF00690. Cation_ATPase_N. 1 hit.
    PF00122. E1-E2_ATPase. 1 hit.
    PF00702. Hydrolase. 1 hit.
    [Graphical view]
    PRINTSiPR00119. CATATPASE.
    SMARTiSM00831. Cation_ATPase_N. 1 hit.
    [Graphical view]
    SUPFAMiSSF56784. SSF56784. 2 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]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P50993-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGRGAGREYS PAATTAENGG GKKKQKEKEL DELKKEVAMD DHKLSLDELG     50
    RKYQVDLSKG LTNQRAQDVL ARDGPNALTP PPTTPEWVKF CRQLFGGFSI 100
    LLWIGAILCF LAYGIQAAME DEPSNDNLYL GVVLAAVVIV TGCFSYYQEA 150
    KSSKIMDSFK NMVPQQALVI REGEKMQINA EEVVVGDLVE VKGGDRVPAD 200
    LRIISSHGCK VDNSSLTGES EPQTRSPEFT HENPLETRNI CFFSTNCVEG 250
    TARGIVIATG DRTVMGRIAT LASGLEVGRT PIAMEIEHFI QLITGVAVFL 300
    GVSFFVLSLI LGYSWLEAVI FLIGIIVANV PEGLLATVTV CLTLTAKRMA 350
    RKNCLVKNLE AVETLGSTST ICSDKTGTLT QNRMTVAHMW FDNQIHEADT 400
    TEDQSGATFD KRSPTWTALS RIAGLCNRAV FKAGQENISV SKRDTAGDAS 450
    ESALLKCIEL SCGSVRKMRD RNPKVAEIPF NSTNKYQLSI HEREDSPQSH 500
    VLVMKGAPER ILDRCSTILV QGKEIPLDKE MQDAFQNAYM ELGGLGERVL 550
    GFCQLNLPSG KFPRGFKFDT DELNFPTEKL CFVGLMSMID PPRAAVPDAV 600
    GKCRSAGIKV IMVTGDHPIT AKAIAKGVGI ISEGNETVED IAARLNIPMS 650
    QVNPREAKAC VVHGSDLKDM TSEQLDEILK NHTEIVFART SPQQKLIIVE 700
    GCQRQGAIVA VTGDGVNDSP ALKKADIGIA MGISGSDVSK QAADMILLDD 750
    NFASIVTGVE EGRLIFDNLK KSIAYTLTSN IPEITPFLLF IIANIPLPLG 800
    TVTILCIDLG TDMVPAISLA YEAAESDIMK RQPRNSQTDK LVNERLISMA 850
    YGQIGMIQAL GGFFTYFVIL AENGFLPSRL LGIRLDWDDR TMNDLEDSYG 900
    QEWTYEQRKV VEFTCHTAFF ASIVVVQWAD LIICKTRRNS VFQQGMKNKI 950
    LIFGLLEETA LAAFLSYCPG MGVALRMYPL KVTWWFCAFP YSLLIFIYDE 1000
    VRKLILRRYP GGWVEKETYY 1020
    Length:1,020
    Mass (Da):112,265
    Last modified:October 1, 1996 - v1
    Checksum:iAFBD8EA94FFB4FC3
    GO

    Sequence cautioni

    The sequence BAA34498.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti378 – 3781T → N in AHC1. 1 Publication
    Corresponds to variant rs28934002 [ dbSNP | Ensembl ].
    VAR_019934
    Natural varianti689 – 6891R → Q in FHM2. 1 Publication
    Corresponds to variant rs28933401 [ dbSNP | Ensembl ].
    VAR_019935
    Natural varianti715 – 7151G → R in FHM2; de novo mutation in a sporadic case. 1 Publication
    VAR_065685
    Natural varianti731 – 7311M → T in FHM2. 1 Publication
    Corresponds to variant rs28933400 [ dbSNP | Ensembl ].
    VAR_019936
    Natural varianti764 – 7641L → P in FHM2; loss of function. 1 Publication
    Corresponds to variant rs28933398 [ dbSNP | Ensembl ].
    VAR_019937
    Natural varianti874 – 8741G → S in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy. 1 Publication
    VAR_069991
    Natural varianti887 – 8871W → R in FHM2; loss of function. 1 Publication
    Corresponds to variant rs28933399 [ dbSNP | Ensembl ].
    VAR_019938
    Natural varianti1007 – 10071R → W in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy. 1 Publication
    VAR_069992

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J05096 Genomic DNA. Translation: AAA51797.1.
    AB018321 mRNA. Translation: BAA34498.2. Different initiation.
    AL121987 Genomic DNA. Translation: CAI15271.1.
    CH471121 Genomic DNA. Translation: EAW52740.1.
    CH471121 Genomic DNA. Translation: EAW52741.1.
    BC052271 mRNA. Translation: AAH52271.2.
    M16795 mRNA. Translation: AAA51799.1.
    M27578, M27571, M27576 Genomic DNA. Translation: AAA35575.1.
    Y07494 mRNA. Translation: CAA68793.1. Sequence problems.
    CCDSiCCDS1196.1.
    PIRiA34474.
    RefSeqiNP_000693.1. NM_000702.3.
    UniGeneiHs.34114.

    Genome annotation databases

    EnsembliENST00000361216; ENSP00000354490; ENSG00000018625.
    GeneIDi477.
    KEGGihsa:477.
    UCSCiuc001fvb.2. human.

    Polymorphism databases

    DMDMi1703467.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J05096 Genomic DNA. Translation: AAA51797.1 .
    AB018321 mRNA. Translation: BAA34498.2 . Different initiation.
    AL121987 Genomic DNA. Translation: CAI15271.1 .
    CH471121 Genomic DNA. Translation: EAW52740.1 .
    CH471121 Genomic DNA. Translation: EAW52741.1 .
    BC052271 mRNA. Translation: AAH52271.2 .
    M16795 mRNA. Translation: AAA51799.1 .
    M27578 , M27571 , M27576 Genomic DNA. Translation: AAA35575.1 .
    Y07494 mRNA. Translation: CAA68793.1 . Sequence problems.
    CCDSi CCDS1196.1.
    PIRi A34474.
    RefSeqi NP_000693.1. NM_000702.3.
    UniGenei Hs.34114.

    3D structure databases

    ProteinModelPortali P50993.
    SMRi P50993. Positions 28-1020.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106967. 7 interactions.
    IntActi P50993. 1 interaction.
    STRINGi 9606.ENSP00000354490.

    Chemistry

    BindingDBi P50993.
    ChEMBLi CHEMBL2095186.

    Protein family/group databases

    TCDBi 3.A.3.1.1. the p-type atpase (p-atpase) superfamily.

    PTM databases

    PhosphoSitei P50993.

    Polymorphism databases

    DMDMi 1703467.

    Proteomic databases

    MaxQBi P50993.
    PaxDbi P50993.
    PRIDEi P50993.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361216 ; ENSP00000354490 ; ENSG00000018625 .
    GeneIDi 477.
    KEGGi hsa:477.
    UCSCi uc001fvb.2. human.

    Organism-specific databases

    CTDi 477.
    GeneCardsi GC01P160085.
    GeneReviewsi ATP1A2.
    HGNCi HGNC:800. ATP1A2.
    HPAi CAB022230.
    MIMi 104290. phenotype.
    182340. gene.
    602481. phenotype.
    neXtProti NX_P50993.
    Orphaneti 2131. Alternating hemiplegia of childhood.
    569. Familial or sporadic hemiplegic migraine.
    PharmGKBi PA30796.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0474.
    HOGENOMi HOG000265622.
    HOVERGENi HBG004298.
    InParanoidi P50993.
    KOi K01539.
    OMAi IINIPLP.
    OrthoDBi EOG7327N0.
    PhylomeDBi P50993.
    TreeFami TF312838.

    Enzyme and pathway databases

    Reactomei REACT_25149. Ion transport by P-type ATPases.

    Miscellaneous databases

    ChiTaRSi ATP1A2. human.
    GeneWikii ATP1A2.
    GenomeRNAii 477.
    NextBioi 1977.
    PROi P50993.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P50993.
    Bgeei P50993.
    CleanExi HS_ATP1A2.
    Genevestigatori P50993.

    Family and domain databases

    Gene3Di 1.20.1110.10. 2 hits.
    2.70.150.10. 2 hits.
    3.40.1110.10. 1 hit.
    InterProi IPR006068. ATPase_P-typ_cation-transptr_C.
    IPR004014. ATPase_P-typ_cation-transptr_N.
    IPR023299. ATPase_P-typ_cyto_domN.
    IPR005775. ATPase_P-typ_Na/K_IIC.
    IPR018303. ATPase_P-typ_P_site.
    IPR023298. ATPase_P-typ_TM_dom.
    IPR008250. ATPase_P-typ_transduc_dom_A.
    IPR001757. Cation_transp_P_typ_ATPase.
    IPR023214. HAD-like_dom.
    [Graphical view ]
    Pfami PF00689. Cation_ATPase_C. 1 hit.
    PF00690. Cation_ATPase_N. 1 hit.
    PF00122. E1-E2_ATPase. 1 hit.
    PF00702. Hydrolase. 1 hit.
    [Graphical view ]
    PRINTSi PR00119. CATATPASE.
    SMARTi SM00831. Cation_ATPase_N. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56784. SSF56784. 2 hits.
    SSF81660. SSF81660. 1 hit.
    TIGRFAMsi TIGR01106. ATPase-IIC_X-K. 1 hit.
    TIGR01494. ATPase_P-type. 2 hits.
    PROSITEi PS00154. ATPASE_E1_E2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms."
      Shull M.M., Pugh D.G., Lingrel J.B.
      J. Biol. Chem. 264:17532-17543(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Ovary.
    6. "Multiple genes encode the human Na+,K+-ATPase catalytic subunit."
      Shull M.M., Lingrel J.B.
      Proc. Natl. Acad. Sci. U.S.A. 84:4039-4043(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 211-249.
      Tissue: Leukocyte.
    7. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 251-442.
      Tissue: Brain and Placenta.
    8. "Family of human Na+,K+-ATPase genes. Structure of the putative regulatory region of the alpha+-gene."
      Sverdlov E.D., Bessarab D.A., Malyshev I.V., Petrukhin K.E., Smirnov Y.V., Ushkaryov Y.A., Monastyrskaya G.S., Broude N.E., Modyanov N.N.
      FEBS Lett. 244:481-483(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-4.
    9. "Subcellular distribution and immunocytochemical localization of Na,K-ATPase subunit isoforms in human skeletal muscle."
      Hundal H.S., Maxwell D.L., Ahmed A., Darakhshan F., Mitsumoto Y., Klip A.
      Mol. Membr. Biol. 11:255-262(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-570 AND SER-587, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions."
      Vanmolkot K.R.J., Kors E.E., Hottenga J.-J., Terwindt G.M., Haan J., Hoefnagels W.A.J., Black D.F., Sandkuijl L.A., Frants R.R., Ferrari M.D., van den Maagdenberg A.M.J.M.
      Ann. Neurol. 54:360-366(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS FHM2 GLN-689 AND THR-731.
    12. "Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2."
      De Fusco M., Marconi R., Silvestri L., Atorino L., Rampoldi L., Morgante L., Ballabio A., Aridon P., Casari G.
      Nat. Genet. 33:192-196(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS FHM2 PRO-764 AND ARG-887, CHARACTERIZATION OF VARIANTS FMH2 PRO-764 AND ARG-887.
    13. "Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation."
      Swoboda K.J., Kanavakis E., Xaidara A., Johnson J.E., Leppert M.F., Schlesinger-Massart M.B., Ptacek L.J., Silver K., Youroukos S.
      Ann. Neurol. 55:884-887(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT AHC1 ASN-378.
    14. "Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation."
      De Sanctis S., Grieco G.S., Breda L., Casali C., Nozzi M., Del Torto M., Chiarelli F., Verrotti A.
      Headache 51:447-450(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FHM2 ARG-715.
    15. "Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy."
      Pisano T., Spiller S., Mei D., Guerrini R., Cianchetti C., Friedrich T., Pruna D.
      Cephalalgia 33:1302-1310(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FHM2 TRP-1007.
    16. Cited for: VARIANT FHM2 SER-874.

    Entry informationi

    Entry nameiAT1A2_HUMAN
    AccessioniPrimary (citable) accession number: P50993
    Secondary accession number(s): D3DVE4
    , Q07059, Q5JW74, Q86UZ5, Q9UQ25
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 1, 1996
    Last modified: October 1, 2014
    This is version 152 of the entry and version 1 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 1
      Human chromosome 1: 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

    External Data

    Dasty 3