Seroatlas · Human Serome Atlas

ATP1A3

Sodium/potassium-transporting ATPase subunit alpha-3

Also known as: AT1A3_HUMAN, DYT12

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P13637
Gene
ATP1A3
Ensembl
ENSG00000105409
Chromosome
19
Canonical length
1013 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Canonical amino-acid sequenceUniProt

1013 residues, UniProt reviewed canonical sequence.

>P13637|ATP1A3
     1  MGDKKDDKDS PKKNKGKERR DLDDLKKEVA MTEHKMSVEE VCRKYNTDCV QGLTHSKAQE
    61  ILARDGPNAL TPPPTTPEWV KFCRQLFGGF SILLWIGAIL CFLAYGIQAG TEDDPSGDNL
   121  YLGIVLAAVV IITGCFSYYQ EAKSSKIMES FKNMVPQQAL VIREGEKMQV NAEEVVVGDL
   181  VEIKGGDRVP ADLRIISAHG CKVDNSSLTG ESEPQTRSPD CTHDNPLETR NITFFSTNCV
   241  EGTARGVVVA TGDRTVMGRI ATLASGLEVG KTPIAIEIEH FIQLITGVAV FLGVSFFILS
   301  LILGYTWLEA VIFLIGIIVA NVPEGLLATV TVCLTLTAKR MARKNCLVKN LEAVETLGST
   361  STICSDKTGT LTQNRMTVAH MWFDNQIHEA DTTEDQSGTS FDKSSHTWVA LSHIAGLCNR
   421  AVFKGGQDNI PVLKRDVAGD ASESALLKCI ELSSGSVKLM RERNKKVAEI PFNSTNKYQL
   481  SIHETEDPND NRYLLVMKGA PERILDRCST ILLQGKEQPL DEEMKEAFQN AYLELGGLGE
   541  RVLGFCHYYL PEEQFPKGFA FDCDDVNFTT DNLCFVGLMS MIDPPRAAVP DAVGKCRSAG
   601  IKVIMVTGDH PITAKAIAKG VGIISEGNET VEDIAARLNI PVSQVNPRDA KACVIHGTDL
   661  KDFTSEQIDE ILQNHTEIVF ARTSPQQKLI IVEGCQRQGA IVAVTGDGVN DSPALKKADI
   721  GVAMGIAGSD VSKQAADMIL LDDNFASIVT GVEEGRLIFD NLKKSIAYTL TSNIPEITPF
   781  LLFIMANIPL PLGTITILCI DLGTDMVPAI SLAYEAAESD IMKRQPRNPR TDKLVNERLI
   841  SMAYGQIGMI QALGGFFSYF VILAENGFLP GNLVGIRLNW DDRTVNDLED SYGQQWTYEQ
   901  RKVVEFTCHT AFFVSIVVVQ WADLIICKTR RNSVFQQGMK NKILIFGLFE ETALAAFLSY
   961  CPGMDVALRM YPLKPSWWFC AFPYSFLIFV YDEIRKLILR RNPGGWVEKE TYY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP1A3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
10
Mean surface accessibility (rSASA)
0.23
Highest tissue expression
279 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 279 nTPM
  • retina: 272 nTPM
  • hypothalamus: 234 nTPM
  • hippocampal formation: 195 nTPM
  • cerebellum: 194 nTPM
  • heart muscle: 148 nTPM

Single-cell type

  • other brain neurons: 180 nCPM
  • brain inhibitory neurons: 169 nCPM
  • brain excitatory neurons: 116 nCPM
  • oligodendrocyte progenitor cells: 18 nCPM
  • late spermatids: 17 nCPM
  • oligodendrocytes: 14 nCPM

Immune cell

  • gdT-cell: 0.3 nTPM
  • memory CD8 T-cell: 0.3 nTPM
  • naive CD8 T-cell: 0.2 nTPM
  • memory CD4 T-cell: 0.1 nTPM
  • T-reg: 0.1 nTPM
  • basophil: 0 nTPM

Brain region

  • cerebral cortex: 1,662 nTPM
  • pons: 1,134 nTPM
  • hypothalamus: 915 nTPM
  • white matter: 728 nTPM
  • medulla oblongata: 670 nTPM
  • hippocampal formation: 669 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP1A3.

Disease | AllUniProt

Conditions ATP1A3 is implicated in, by any mechanism.

  • Dystonia 12 (DYT12) MIM:128235
  • Alternating hemiplegia of childhood 2 (AHC2) MIM:614820
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) MIM:601338
  • Developmental and epileptic encephalopathy 99 (DEE99) MIM:619606

Disease | GeneticClinVar

176 pathogenic / likely-pathogenic of 1,386 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Dystonia 12
  • Alternating hemiplegia of childhood 2
  • Developmental and epileptic encephalopathy 99
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
  • Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.06
gnomAD pLI
1
gnomAD missense Z
6.33
DepMap mean gene effect
0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ATP1A3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ATP1A3 as an antibody target. Whether an autoantibody or antibody against ATP1A3 could matter depends on whether native ATP1A3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATP1A3 is annotated at the cell surface, where native ATP1A3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ATP1A3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ATP1A3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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