Seroatlas · Human Serome Atlas

ATP2A1

Sarcoplasmic/endoplasmic reticulum calcium ATPase 1

Also known as: AT2A1_HUMAN, ATP2A, SERCA1

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

Protein identityUniProt · HPA

UniProt accession
O14983
Gene
ATP2A1
Ensembl
ENSG00000196296
Chromosome
16
Canonical length
1001 aa
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Endoplasmic reticulum

OverviewNCBI Gene

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]

Canonical amino-acid sequenceUniProt

1001 residues, UniProt reviewed canonical sequence.

>O14983|ATP2A1
     1  MEAAHAKTTE ECLAYFGVSE TTGLTPDQVK RNLEKYGLNE LPAEEGKTLW ELVIEQFEDL
    61  LVRILLLAAC ISFVLAWFEE GEETITAFVE PFVILLILIA NAIVGVWQER NAENAIEALK
   121  EYEPEMGKVY RADRKSVQRI KARDIVPGDI VEVAVGDKVP ADIRILAIKS TTLRVDQSIL
   181  TGESVSVIKH TEPVPDPRAV NQDKKNMLFS GTNIAAGKAL GIVATTGVGT EIGKIRDQMA
   241  ATEQDKTPLQ QKLDEFGEQL SKVISLICVA VWLINIGHFN DPVHGGSWFR GAIYYFKIAV
   301  ALAVAAIPEG LPAVITTCLA LGTRRMAKKN AIVRSLPSVE TLGCTSVICS DKTGTLTTNQ
   361  MSVCKMFIID KVDGDICLLN EFSITGSTYA PEGEVLKNDK PVRPGQYDGL VELATICALC
   421  NDSSLDFNEA KGVYEKVGEA TETALTTLVE KMNVFNTDVR SLSKVERANA CNSVIRQLMK
   481  KEFTLEFSRD RKSMSVYCSP AKSSRAAVGN KMFVKGAPEG VIDRCNYVRV GTTRVPLTGP
   541  VKEKIMAVIK EWGTGRDTLR CLALATRDTP PKREEMVLDD SARFLEYETD LTFVGVVGML
   601  DPPRKEVTGS IQLCRDAGIR VIMITGDNKG TAIAICRRIG IFGENEEVAD RAYTGREFDD
   661  LPLAEQREAC RRACCFARVE PSHKSKIVEY LQSYDEITAM TGDGVNDAPA LKKAEIGIAM
   721  GSGTAVAKTA SEMVLADDNF STIVAAVEEG RAIYNNMKQF IRYLISSNVG EVVCIFLTAA
   781  LGLPEALIPV QLLWVNLVTD GLPATALGFN PPDLDIMDRP PRSPKEPLIS GWLFFRYMAI
   841  GGYVGAATVG AAAWWFLYAE DGPHVNYSQL THFMQCTEDN THFEGIDCEV FEAPEPMTMA
   901  LSVLVTIEMC NALNSLSENQ SLLRMPPWVN IWLLGSICLS MSLHFLILYV DPLPMIFKLR
   961  ALDLTQWLMV LKISLPVIGL DEILKFVARN YLEDPEDERR K

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP2A1 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
Other membrane
Secreted
No
Transmembrane segments
10
Mean surface accessibility (rSASA)
0.23
Highest tissue expression
7,724 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 7,724 nTPM
  • tongue: 2,989 nTPM
  • salivary gland: 63 nTPM
  • esophagus: 26 nTPM
  • testis: 9.7 nTPM
  • prostate: 8.9 nTPM

Single-cell type

  • thymic myoid cells: 899 nCPM
  • myonuclei: 442 nCPM
  • rod photoreceptor cells: 56 nCPM
  • cone photoreceptor cells: 39 nCPM
  • sertoli cells: 21 nCPM
  • retinal ganglion cells: 19 nCPM

Immune cell

  • NK-cell: 1.6 nTPM
  • plasmacytoid DC: 1.1 nTPM
  • memory B-cell: 0.5 nTPM
  • T-reg: 0.5 nTPM
  • MAIT T-cell: 0.4 nTPM
  • naive CD4 T-cell: 0.4 nTPM

Brain region

  • cerebral cortex: 8.8 nTPM
  • pons: 7.9 nTPM
  • white matter: 7.5 nTPM
  • medulla oblongata: 7 nTPM
  • thalamus: 7 nTPM
  • hypothalamus: 6.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP2A1.

Disease | AllUniProt

Conditions ATP2A1 is implicated in, by any mechanism.

Disease | GeneticClinVar

70 pathogenic / likely-pathogenic of 939 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.83
gnomAD pLI
0
gnomAD missense Z
1.54
DepMap mean gene effect
0.04
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 ATP2A1 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 ATP2A1 as an antibody target. Whether an autoantibody or antibody against ATP2A1 could matter depends on whether native ATP2A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATP2A1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ATP2A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ATP2A1. 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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