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P50993

- AT1A2_HUMAN

UniProt

P50993 - AT1A2_HUMAN

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Protein
Sodium/potassium-transporting ATPase subunit alpha-2
Gene
ATP1A2, KIAA0778
Organism
Homo sapiens (Human)
Status
Reviewed - 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, 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 intermediate By similarity
Metal bindingi714 – 7141Magnesium By similarity
Metal bindingi718 – 7181Magnesium By 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. ATP biosynthetic process Source: InterPro
  2. ATP hydrolysis coupled proton transport Source: Ensembl
  3. adult locomotory behavior 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
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

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini6 – 8580Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei86 – 10621Helical; Reviewed prediction
Add
BLAST
Topological domaini107 – 12923Extracellular Reviewed prediction
Add
BLAST
Transmembranei130 – 15021Helical; Reviewed prediction
Add
BLAST
Topological domaini151 – 286136Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei287 – 30620Helical; Reviewed prediction
Add
BLAST
Topological domaini307 – 31812Extracellular Reviewed prediction
Add
BLAST
Transmembranei319 – 33618Helical; Reviewed prediction
Add
BLAST
Topological domaini337 – 769433Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei770 – 78920Helical; Reviewed prediction
Add
BLAST
Topological domaini790 – 79910Extracellular Reviewed prediction
Transmembranei800 – 82021Helical; Reviewed prediction
Add
BLAST
Topological domaini821 – 84020Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei841 – 86323Helical; Reviewed prediction
Add
BLAST
Topological domaini864 – 91552Extracellular Reviewed prediction
Add
BLAST
Transmembranei916 – 93520Helical; Reviewed prediction
Add
BLAST
Topological domaini936 – 94813Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei949 – 96719Helical; Reviewed prediction
Add
BLAST
Topological domaini968 – 98215Extracellular Reviewed prediction
Add
BLAST
Transmembranei983 – 100321Helical; Reviewed prediction
Add
BLAST
Topological domaini1004 – 102017Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 55 By similarity
PRO_0000002503
Chaini6 – 10201015Sodium/potassium-transporting ATPase subunit alpha-2
PRO_0000002504Add
BLAST

Amino acid modifications

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

Family & Domainsi

Region

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

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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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 151 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

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