Seroatlas · Human Serome Atlas

ATP2B1

Plasma membrane calcium-transporting ATPase 1

Also known as: AT2B1_HUMAN, PMCA1

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

Protein identityUniProt · HPA

UniProt accession: P20020
Gene: ATP2B1
Ensembl: ENSG00000070961
Chromosome: 12
Canonical length: 1220 aa
Protein class: Disease related genes, Enzymes, FDA approved drug targets, Metabolic proteins, Plasma proteins, Predicted membrane proteins, Transporters
Subcellular location: Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1220 residues, UniProt reviewed canonical sequence.

>P20020|ATP2B1
     1  MGDMANNSVA YSGVKNSLKE ANHDGDFGIT LAELRALMEL RSTDALRKIQ ESYGDVYGIC
    61  TKLKTSPNEG LSGNPADLER REAVFGKNFI PPKKPKTFLQ LVWEALQDVT LIILEIAAIV
   121  SLGLSFYQPP EGDNALCGEV SVGEEEGEGE TGWIEGAAIL LSVVCVVLVT AFNDWSKEKQ
   181  FRGLQSRIEQ EQKFTVIRGG QVIQIPVADI TVGDIAQVKY GDLLPADGIL IQGNDLKIDE
   241  SSLTGESDHV KKSLDKDPLL LSGTHVMEGS GRMVVTAVGV NSQTGIIFTL LGAGGEEEEK
   301  KDEKKKEKKN KKQDGAIENR NKAKAQDGAA MEMQPLKSEE GGDGDEKDKK KANLPKKEKS
   361  VLQGKLTKLA VQIGKAGLLM SAITVIILVL YFVIDTFWVQ KRPWLAECTP IYIQYFVKFF
   421  IIGVTVLVVA VPEGLPLAVT ISLAYSVKKM MKDNNLVRHL DACETMGNAT AICSDKTGTL
   481  TMNRMTVVQA YINEKHYKKV PEPEAIPPNI LSYLVTGISV NCAYTSKILP PEKEGGLPRH
   541  VGNKTECALL GLLLDLKRDY QDVRNEIPEE ALYKVYTFNS VRKSMSTVLK NSDGSYRIFS
   601  KGASEIILKK CFKILSANGE AKVFRPRDRD DIVKTVIEPM ASEGLRTICL AFRDFPAGEP
   661  EPEWDNENDI VTGLTCIAVV GIEDPVRPEV PDAIKKCQRA GITVRMVTGD NINTARAIAT
   721  KCGILHPGED FLCLEGKDFN RRIRNEKGEI EQERIDKIWP KLRVLARSSP TDKHTLVKGI
   781  IDSTVSDQRQ VVAVTGDGTN DGPALKKADV GFAMGIAGTD VAKEASDIIL TDDNFTSIVK
   841  AVMWGRNVYD SISKFLQFQL TVNVVAVIVA FTGACITQDS PLKAVQMLWV NLIMDTLASL
   901  ALATEPPTES LLLRKPYGRN KPLISRTMMK NILGHAFYQL VVVFTLLFAG EKFFDIDSGR
   961  NAPLHAPPSE HYTIVFNTFV LMQLFNEINA RKIHGERNVF EGIFNNAIFC TIVLGTFVVQ
  1021  IIIVQFGGKP FSCSELSIEQ WLWSIFLGMG TLLWGQLIST IPTSRLKFLK EAGHGTQKEE
  1081  IPEEELAEDV EEIDHAEREL RRGQILWFRG LNRIQTQIRV VNAFRSSLYE GLEKPESRSS
  1141  IHNFMTHPEF RIEDSEPHIP LIDDTDAEDD APTKRNSSPP PSPNKNNNAV DSGIHLTIEM
  1201  NKSATSSSPG SPLHSLETSL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP2B1 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): 0.32
Highest tissue expression: 89 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 89 nTPM
cerebral cortex: 73 nTPM
retina: 67 nTPM
basal ganglia: 66 nTPM
cerebellum: 39 nTPM
duodenum: 31 nTPM

Single-cell type

monocytes: 2,192 nCPM
neutrophils: 2,144 nCPM
cdc: 982 nCPM
brain inhibitory neurons: 762 nCPM
hofbauer cells: 606 nCPM
b-cells: 596 nCPM

Immune cell

neutrophil: 192 nTPM
non-classical monocyte: 119 nTPM
memory B-cell: 116 nTPM
naive B-cell: 111 nTPM
T-reg: 81 nTPM
myeloid DC: 73 nTPM

Brain region

basal ganglia: 246 nTPM
cerebral cortex: 189 nTPM
hippocampal formation: 153 nTPM
white matter: 148 nTPM
cerebellum: 106 nTPM
amygdala: 96 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP2B1.

Disease | AllUniProt

Conditions ATP2B1 is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal dominant 66 (MRD66) MIM:619910

Disease | GeneticClinVar

45 pathogenic / likely-pathogenic of 277 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual developmental disorder, autosomal dominant 66
Neurodevelopmental disorder
Inborn genetic diseases
Neurodevelopmental delay
Hypocalcemia

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): 0.08
gnomAD pLI: 1
gnomAD missense Z: 5.29
DepMap mean gene effect: -0.26
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 ATP2B1 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 ATP2B1 as an antibody target. Whether an autoantibody or antibody against ATP2B1 could matter depends on whether native ATP2B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATP2B1 is annotated at the cell surface, where native ATP2B1 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 ATP2B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...