ATP2B3

Protein identityUniProt · HPA

UniProt accession

Q16720

Gene

ATP2B3

Ensembl

ENSG00000067842

Chromosome

X

Canonical length

1220 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters

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 3. 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.

>Q16720|ATP2B3
     1  MGDMANSSIE FHPKPQQQRD VPQAGGFGCT LAELRTLMEL RGAEALQKIE EAYGDVSGLC
    61  RRLKTSPTEG LADNTNDLEK RRQIYGQNFI PPKQPKTFLQ LVWEALQDVT LIILEVAAIV
   121  SLGLSFYAPP GEESEACGNV SGGAEDEGEA EAGWIEGAAI LLSVICVVLV TAFNDWSKEK
   181  QFRGLQSRIE QEQKFTVIRN GQLLQVPVAA LVVGDIAQVK YGDLLPADGV LIQANDLKID
   241  ESSLTGESDH VRKSADKDPM LLSGTHVMEG SGRMVVTAVG VNSQTGIIFT LLGAGGEEEE
   301  KKDKKGKQQD GAMESSQTKA KKQDGAVAME MQPLKSAEGG EMEEREKKKA NAPKKEKSVL
   361  QGKLTKLAVQ IGKAGLVMSA ITVIILVLYF VIETFVVEGR TWLAECTPVY VQYFVKFFII
   421  GVTVLVVAVP EGLPLAVTIS LAYSVKKMMK DNNLVRHLDA CETMGNATAI CSDKTGTLTT
   481  NRMTVVQSYL GDTHYKEIPA PSALTPKILD LLVHAISINS AYTTKILPPE KEGALPRQVG
   541  NKTECALLGF VLDLKRDFQP VREQIPEDKL YKVYTFNSVR KSMSTVIRMP DGGFRLFSKG
   601  ASEILLKKCT NILNSNGELR GFRPRDRDDM VRKIIEPMAC DGLRTICIAY RDFSAGQEPD
   661  WDNENEVVGD LTCIAVVGIE DPVRPEVPEA IRKCQRAGIT VRMVTGDNIN TARAIAAKCG
   721  IIQPGEDFLC LEGKEFNRRI RNEKGEIEQE RLDKVWPKLR VLARSSPTDK HTLVKGIIDS
   781  TTGEQRQVVA VTGDGTNDGP ALKKADVGFA MGIAGTDVAK EASDIILTDD NFTSIVKAVM
   841  WGRNVYDSIS KFLQFQLTVN VVAVIVAFTG ACITQDSPLK AVQMLWVNLI MDTFASLALA
   901  TEPPTESLLL RKPYGRDKPL ISRTMMKNIL GHAVYQLAII FTLLFVGELF FDIDSGRNAP
   961  LHSPPSEHYT IIFNTFVMMQ LFNEINARKI HGERNVFDGI FSNPIFCTIV LGTFGIQIVI
  1021  VQFGGKPFSC SPLSTEQWLW CLFVGVGELV WGQVIATIPT SQLKCLKEAG HGPGKDEMTD
  1081  EELAEGEEEI DHAERELRRG QILWFRGLNR IQTQIRVVKA FRSSLYEGLE KPESKTSIHN
  1141  FMATPEFLIN DYTHNIPLID DTDVDENEER LRAPPPPSPN QNNNAIDSGI YLTTHVTKSA
  1201  TSSVFSSSPG SPLHSVETSL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP2B3 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

106 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP2B3.

Disease | AllUniProt

Conditions ATP2B3 is implicated in, by any mechanism.

• Spinocerebellar ataxia, X-linked 1 (SCAX1) MIM:302500

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 257 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• X-linked progressive cerebellar ataxia
• Aldosterone-producing adrenal cortex adenoma
• Inborn genetic diseases
• 8 conditions
• Arthrogryposis multiplex congenita

Disease | ImmuneIEDB

Conditions an epitope on ATP2B3 was assayed in.

• lung adenocarcinoma T cell

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)

0.22

gnomAD pLI

1

gnomAD missense Z

2.75

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• calcium ion export across plasma membrane
• monoatomic ion transmembrane transport
• regulation of cardiac conduction
• regulation of cytosolic calcium ion concentration

Molecular functions

• ATP binding
• ATP hydrolysis activity
• calcium ion transmembrane transporter activity
• calmodulin binding
• metal ion binding
• P-type calcium transporter activity
• P-type calcium transporter activity involved in regulation of presynaptic cytosolic calcium ion concentration

Cellular components

• extracellular vesicle
• GABA-ergic synapse
• glutamatergic synapse
• parallel fiber
• parallel fiber to Purkinje cell synapse
• plasma membrane
• presynaptic membrane

Protein domainsUniProt · Pfam · InterPro

• P-type ATPase
• Cation-transporting P-type ATPase, N-terminal
• Cation-transporting P-type ATPase, C-terminal
• P-type ATPase, subfamily IIB
• P-type ATPase, A domain superfamily
• P-type ATPase, phosphorylation site
• Plasma membrane calcium transporting P-type ATPase, C-terminal
• HAD superfamily
• P-type ATPase, transmembrane domain superfamily
• P-type ATPase, cytoplasmic domain N
• HAD-like superfamily
• P-type ATPase, haloacid dehalogenase domain
• P-type ATPase, A domain
• P-type ATPase actuator domain
• Cation transporting ATPase, C-terminus
• Cation transporter/ATPase, N-terminus
• haloacid dehalogenase-like hydrolase
• Plasma membrane calcium transporter ATPase C terminal
• P-type ATPase, cytoplasmic domain N

KeywordsUniProt

• ATP-binding
• Calcium
• Calcium transport
• Calmodulin-binding
• Cell membrane
• Cell projection
• Ion transport
• Magnesium
• Membrane
• Metal-binding
• Neurodegeneration
• Nucleotide-binding
• Phosphoprotein
• Synapse
• Translocase
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of ATP2B3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PDZD11
• YWHAE
• ATP2B1