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Entry version 197 (18 Sep 2019)
Sequence version 1 (01 Oct 1996)
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Protein

Sodium/potassium-transporting ATPase subunit alpha-2

Gene

ATP1A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei3744-aspartylphosphate intermediateBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi714MagnesiumBy similarity1
Metal bindingi718MagnesiumBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTranslocase
Biological processIon transport, Potassium transport, Sodium transport, Sodium/potassium transport, Transport
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding, Potassium, Sodium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sodium/potassium-transporting ATPase subunit alpha-2 (EC:7.2.2.13)
Short name:
Na(+)/K(+) ATPase alpha-2 subunit
Alternative name(s):
Sodium pump subunit alpha-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ATP1A2
Synonyms:KIAA0778
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:800 ATP1A2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
182340 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P50993

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini6 – 85CytoplasmicSequence analysisAdd BLAST80
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei86 – 106HelicalSequence analysisAdd BLAST21
Topological domaini107 – 129ExtracellularSequence analysisAdd BLAST23
Transmembranei130 – 150HelicalSequence analysisAdd BLAST21
Topological domaini151 – 286CytoplasmicSequence analysisAdd BLAST136
Transmembranei287 – 306HelicalSequence analysisAdd BLAST20
Topological domaini307 – 318ExtracellularSequence analysisAdd BLAST12
Transmembranei319 – 336HelicalSequence analysisAdd BLAST18
Topological domaini337 – 769CytoplasmicSequence analysisAdd BLAST433
Transmembranei770 – 789HelicalSequence analysisAdd BLAST20
Topological domaini790 – 799ExtracellularSequence analysis10
Transmembranei800 – 820HelicalSequence analysisAdd BLAST21
Topological domaini821 – 840CytoplasmicSequence analysisAdd BLAST20
Transmembranei841 – 863HelicalSequence analysisAdd BLAST23
Topological domaini864 – 915ExtracellularSequence analysisAdd BLAST52
Transmembranei916 – 935HelicalSequence analysisAdd BLAST20
Topological domaini936 – 948CytoplasmicSequence analysisAdd BLAST13
Transmembranei949 – 967HelicalSequence analysisAdd BLAST19
Topological domaini968 – 982ExtracellularSequence analysisAdd BLAST15
Transmembranei983 – 1003HelicalSequence analysisAdd BLAST21
Topological domaini1004 – 1020CytoplasmicSequence analysisAdd BLAST17

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Migraine, familial hemiplegic, 2 (FHM2)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_019935689R → Q in FHM2. 1 PublicationCorresponds to variant dbSNP:rs28933401EnsemblClinVar.1
Natural variantiVAR_065685715G → R in FHM2; de novo mutation in a sporadic case. 1 PublicationCorresponds to variant dbSNP:rs1553245771EnsemblClinVar.1
Natural variantiVAR_019936731M → T in FHM2. 1 PublicationCorresponds to variant dbSNP:rs28933400EnsemblClinVar.1
Natural variantiVAR_019937764L → P in FHM2; loss of function. 1 PublicationCorresponds to variant dbSNP:rs28933398EnsemblClinVar.1
Natural variantiVAR_069991874G → S in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy. 1 Publication1
Natural variantiVAR_019938887W → R in FHM2; loss of function. 1 PublicationCorresponds to variant dbSNP:rs28933399EnsemblClinVar.1
Natural variantiVAR_0699921007R → W in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy. 1 PublicationCorresponds to variant dbSNP:rs746795369Ensembl.1
Alternating hemiplegia of childhood 1 (AHC1)1 Publication
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019934378T → N in AHC1. 1 PublicationCorresponds to variant dbSNP:rs28934002EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
477

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ATP1A2

MalaCards human disease database

More...
MalaCardsi
ATP1A2
MIMi104290 phenotype
602481 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000018625

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2131 Alternating hemiplegia of childhood
569 Familial or sporadic hemiplegic migraine

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30796

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2095186

Drug and drug target database

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DrugBanki
DB01092 Ouabain
DB09479 Rubidium Rb-82

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ATP1A2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1703467

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_00000025031 – 5By similarity5
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000025046 – 1020Sodium/potassium-transporting ATPase subunit alpha-2Add BLAST1015

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei10PhosphoserineBy similarity1
Modified residuei439PhosphoserineBy similarity1
Modified residuei450PhosphoserineBy similarity1
Modified residuei496PhosphoserineBy similarity1
Modified residuei559PhosphoserineBy similarity1
Modified residuei570PhosphothreonineCombined sources1
Modified residuei587PhosphoserineCombined sources1
Modified residuei672PhosphoserineBy similarity1
Modified residuei826PhosphoserineBy similarity1
Modified residuei940Phosphoserine; by PKABy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P50993

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P50993

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P50993

MaxQB - The MaxQuant DataBase

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MaxQBi
P50993

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P50993

PeptideAtlas

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PeptideAtlasi
P50993

PRoteomics IDEntifications database

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PRIDEi
P50993

ProteomicsDB human proteome resource

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ProteomicsDBi
56274

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P50993

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P50993

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P50993

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000018625 Expressed in 215 organ(s), highest expression level in amygdala

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P50993 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P50993 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB022230

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106967, 21 interactors

Protein interaction database and analysis system

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IntActi
P50993, 11 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000354490

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P50993

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P50993

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni80 – 82Interaction with phosphoinositide-3 kinaseBy similarity3

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0203 Eukaryota
COG0474 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159936

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000265622

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P50993

KEGG Orthology (KO)

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KOi
K01539

Identification of Orthologs from Complete Genome Data

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OMAi
YRAEKTI

Database of Orthologous Groups

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OrthoDBi
388324at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P50993

TreeFam database of animal gene trees

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TreeFami
TF312838

Family and domain databases

Conserved Domains Database

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CDDi
cd02608 P-type_ATPase_Na-K_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.1110.10, 1 hit
3.40.50.1000, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View 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
IPR023214 HAD_sf
IPR005775 P-type_ATPase_IIC
IPR001757 P_typ_ATPase

Pfam protein domain database

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Pfami
View protein in Pfam
PF00689 Cation_ATPase_C, 1 hit
PF00690 Cation_ATPase_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00831 Cation_ATPase_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56784 SSF56784, 1 hit
SSF81653 SSF81653, 1 hit
SSF81660 SSF81660, 1 hit
SSF81665 SSF81665, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01106 ATPase-IIC_X-K, 1 hit
TIGR01494 ATPase_P-type, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00154 ATPASE_E1_E2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P50993-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGRGAGREYS PAATTAENGG GKKKQKEKEL DELKKEVAMD DHKLSLDELG
60 70 80 90 100
RKYQVDLSKG LTNQRAQDVL ARDGPNALTP PPTTPEWVKF CRQLFGGFSI
110 120 130 140 150
LLWIGAILCF LAYGIQAAME DEPSNDNLYL GVVLAAVVIV TGCFSYYQEA
160 170 180 190 200
KSSKIMDSFK NMVPQQALVI REGEKMQINA EEVVVGDLVE VKGGDRVPAD
210 220 230 240 250
LRIISSHGCK VDNSSLTGES EPQTRSPEFT HENPLETRNI CFFSTNCVEG
260 270 280 290 300
TARGIVIATG DRTVMGRIAT LASGLEVGRT PIAMEIEHFI QLITGVAVFL
310 320 330 340 350
GVSFFVLSLI LGYSWLEAVI FLIGIIVANV PEGLLATVTV CLTLTAKRMA
360 370 380 390 400
RKNCLVKNLE AVETLGSTST ICSDKTGTLT QNRMTVAHMW FDNQIHEADT
410 420 430 440 450
TEDQSGATFD KRSPTWTALS RIAGLCNRAV FKAGQENISV SKRDTAGDAS
460 470 480 490 500
ESALLKCIEL SCGSVRKMRD RNPKVAEIPF NSTNKYQLSI HEREDSPQSH
510 520 530 540 550
VLVMKGAPER ILDRCSTILV QGKEIPLDKE MQDAFQNAYM ELGGLGERVL
560 570 580 590 600
GFCQLNLPSG KFPRGFKFDT DELNFPTEKL CFVGLMSMID PPRAAVPDAV
610 620 630 640 650
GKCRSAGIKV IMVTGDHPIT AKAIAKGVGI ISEGNETVED IAARLNIPMS
660 670 680 690 700
QVNPREAKAC VVHGSDLKDM TSEQLDEILK NHTEIVFART SPQQKLIIVE
710 720 730 740 750
GCQRQGAIVA VTGDGVNDSP ALKKADIGIA MGISGSDVSK QAADMILLDD
760 770 780 790 800
NFASIVTGVE EGRLIFDNLK KSIAYTLTSN IPEITPFLLF IIANIPLPLG
810 820 830 840 850
TVTILCIDLG TDMVPAISLA YEAAESDIMK RQPRNSQTDK LVNERLISMA
860 870 880 890 900
YGQIGMIQAL GGFFTYFVIL AENGFLPSRL LGIRLDWDDR TMNDLEDSYG
910 920 930 940 950
QEWTYEQRKV VEFTCHTAFF ASIVVVQWAD LIICKTRRNS VFQQGMKNKI
960 970 980 990 1000
LIFGLLEETA LAAFLSYCPG MGVALRMYPL KVTWWFCAFP YSLLIFIYDE
1010 1020
VRKLILRRYP GGWVEKETYY
Length:1,020
Mass (Da):112,265
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iAFBD8EA94FFB4FC3
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AKY9B1AKY9_HUMAN
Sodium/potassium-transporting ATPas...
ATP1A2
1,009Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y7C1H0Y7C1_HUMAN
Sodium/potassium-transporting ATPas...
ATP1A2
714Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078231366G → A Probable disease-associated mutation found in a patient with early infantile epileptic encephalopathy. 1 PublicationCorresponds to variant dbSNP:rs1057518514EnsemblClinVar.1
Natural variantiVAR_019934378T → N in AHC1. 1 PublicationCorresponds to variant dbSNP:rs28934002EnsemblClinVar.1
Natural variantiVAR_078232593R → W Found in a patient with early infantile epileptic encephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039530EnsemblClinVar.1
Natural variantiVAR_019935689R → Q in FHM2. 1 PublicationCorresponds to variant dbSNP:rs28933401EnsemblClinVar.1
Natural variantiVAR_065685715G → R in FHM2; de novo mutation in a sporadic case. 1 PublicationCorresponds to variant dbSNP:rs1553245771EnsemblClinVar.1
Natural variantiVAR_019936731M → T in FHM2. 1 PublicationCorresponds to variant dbSNP:rs28933400EnsemblClinVar.1
Natural variantiVAR_019937764L → P in FHM2; loss of function. 1 PublicationCorresponds to variant dbSNP:rs28933398EnsemblClinVar.1
Natural variantiVAR_069991874G → S in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy. 1 Publication1
Natural variantiVAR_019938887W → R in FHM2; loss of function. 1 PublicationCorresponds to variant dbSNP:rs28933399EnsemblClinVar.1
Natural variantiVAR_0699921007R → W in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy. 1 PublicationCorresponds to variant dbSNP:rs746795369Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
J05096 Genomic DNA Translation: AAA51797.1
AB018321 mRNA Translation: BAA34498.2 Different initiation.
AL121987 Genomic DNA No translation available.
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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS1196.1

Protein sequence database of the Protein Information Resource

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PIRi
A34474

NCBI Reference Sequences

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RefSeqi
NP_000693.1, NM_000702.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000361216; ENSP00000354490; ENSG00000018625

Database of genes from NCBI RefSeq genomes

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GeneIDi
477

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:477

UCSC genome browser

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UCSCi
uc001fvc.4 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J05096 Genomic DNA Translation: AAA51797.1
AB018321 mRNA Translation: BAA34498.2 Different initiation.
AL121987 Genomic DNA No translation available.
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

3D structure databases

SMRiP50993
ModBaseiSearch...

Protein-protein interaction databases

BioGridi106967, 21 interactors
IntActiP50993, 11 interactors
STRINGi9606.ENSP00000354490

Chemistry databases

BindingDBiP50993
ChEMBLiCHEMBL2095186
DrugBankiDB01092 Ouabain
DB09479 Rubidium Rb-82

DrugCentral

More...
DrugCentrali
P50993

Protein family/group databases

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

PTM databases

iPTMnetiP50993
PhosphoSitePlusiP50993
SwissPalmiP50993

Polymorphism and mutation databases

BioMutaiATP1A2
DMDMi1703467

Proteomic databases

EPDiP50993
jPOSTiP50993
MassIVEiP50993
MaxQBiP50993
PaxDbiP50993
PeptideAtlasiP50993
PRIDEiP50993
ProteomicsDBi56274

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361216; ENSP00000354490; ENSG00000018625
GeneIDi477
KEGGihsa:477
UCSCiuc001fvc.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
477
DisGeNETi477

GeneCards: human genes, protein and diseases

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GeneCardsi
ATP1A2
GeneReviewsiATP1A2
HGNCiHGNC:800 ATP1A2
HPAiCAB022230
MalaCardsiATP1A2
MIMi104290 phenotype
182340 gene
602481 phenotype
neXtProtiNX_P50993
OpenTargetsiENSG00000018625
Orphaneti2131 Alternating hemiplegia of childhood
569 Familial or sporadic hemiplegic migraine
PharmGKBiPA30796

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0203 Eukaryota
COG0474 LUCA
GeneTreeiENSGT00940000159936
HOGENOMiHOG000265622
InParanoidiP50993
KOiK01539
OMAiYRAEKTI
OrthoDBi388324at2759
PhylomeDBiP50993
TreeFamiTF312838

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ATP1A2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ATP1A2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
477

Pharos

More...
Pharosi
P50993

Protein Ontology

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PROi
PR:P50993

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000018625 Expressed in 215 organ(s), highest expression level in amygdala
ExpressionAtlasiP50993 baseline and differential
GenevisibleiP50993 HS

Family and domain databases

CDDicd02608 P-type_ATPase_Na-K_like, 1 hit
Gene3Di3.40.1110.10, 1 hit
3.40.50.1000, 1 hit
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
IPR023214 HAD_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, 1 hit
SSF81653 SSF81653, 1 hit
SSF81660 SSF81660, 1 hit
SSF81665 SSF81665, 1 hit
TIGRFAMsiTIGR01106 ATPase-IIC_X-K, 1 hit
TIGR01494 ATPase_P-type, 2 hits
PROSITEiView protein in PROSITE
PS00154 ATPASE_E1_E2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAT1A2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P50993
Secondary accession number(s): D3DVE4
, Q07059, Q5JW74, Q86UZ5, Q9UQ25
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: September 18, 2019
This is version 197 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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