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Aliases for ATP2B1 Gene

Aliases for ATP2B1 Gene

  • ATPase Plasma Membrane Ca2+ Transporting 1 2 3
  • ATPase, Ca++ Transporting, Plasma Membrane 1 2 3 5
  • EC 3.6.3.8 4 63
  • PMCA1 3 4
  • Plasma Membrane Calcium-Transporting ATPase 1 2
  • Plasma Membrane Calcium ATPase Isoform 1 4
  • Plasma Membrane Calcium Pump Isoform 1 4
  • Plasma Membrane Calcium Pump 3
  • EC 3.6.3 63
  • PMCA1kb 3

External Ids for ATP2B1 Gene

Previous GeneCards Identifiers for ATP2B1 Gene

  • GC12M089402
  • GC12M090431
  • GC12M089916
  • GC12M088486
  • GC12M088484
  • GC12M087047
  • GC12M089981

Summaries for ATP2B1 Gene

Entrez Gene Summary for ATP2B1 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]

GeneCards Summary for ATP2B1 Gene

ATP2B1 (ATPase Plasma Membrane Ca2+ Transporting 1) is a Protein Coding gene. Among its related pathways are Platelet activation, signaling and aggregation and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include nucleotide binding and calcium-transporting ATPase activity. An important paralog of this gene is ATP2B3.

UniProtKB/Swiss-Prot for ATP2B1 Gene

  • This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.

Gene Wiki entry for ATP2B1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP2B1 Gene

Genomics for ATP2B1 Gene

Regulatory Elements for ATP2B1 Gene

Promoters for ATP2B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP2B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP2B1 Gene

Chromosome:
12
Start:
89,588,049 bp from pter
End:
89,709,353 bp from pter
Size:
121,305 bases
Orientation:
Minus strand

Genomic View for ATP2B1 Gene

Genes around ATP2B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP2B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP2B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP2B1 Gene

Proteins for ATP2B1 Gene

  • Protein details for ATP2B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20020-AT2B1_HUMAN
    Recommended name:
    Plasma membrane calcium-transporting ATPase 1
    Protein Accession:
    P20020
    Secondary Accessions:
    • Q12992
    • Q12993
    • Q13819
    • Q13820
    • Q13821
    • Q16504
    • Q93082

    Protein attributes for ATP2B1 Gene

    Size:
    1258 amino acids
    Molecular mass:
    138755 Da
    Quaternary structure:
    • Interacts with PDZD11. Interacts with SLC35G1 and STIM1.

    Alternative splice isoforms for ATP2B1 Gene

neXtProt entry for ATP2B1 Gene

Proteomics data for ATP2B1 Gene at MOPED

Post-translational modifications for ATP2B1 Gene

  • Ubiquitination at Lys 19, Lys 62, Lys 256, Lys 622, and Lys 634
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ATP2B1 Gene

Gene Families for ATP2B1 Gene

Graphical View of Domain Structure for InterPro Entry

P20020

UniProtKB/Swiss-Prot:

AT2B1_HUMAN :
  • The calmodulin-binding subdomain B is different in the different splice variants and shows pH dependent calmodulin binding properties in isoforms A, C, D and E.
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
Domain:
  • The calmodulin-binding subdomain B is different in the different splice variants and shows pH dependent calmodulin binding properties in isoforms A, C, D and E.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
genes like me logo Genes that share domains with ATP2B1: view

Function for ATP2B1 Gene

Molecular function for ATP2B1 Gene

GENATLAS Biochemistry:
ATPase,Ca++ transporting,B1plasma membrane,mediating the extrusion of CA2+ from the cell
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
UniProtKB/Swiss-Prot Function:
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.

Enzyme Numbers (IUBMB) for ATP2B1 Gene

Gene Ontology (GO) - Molecular Function for ATP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005388 calcium-transporting ATPase activity IEA,TAS --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ATP2B1: view
genes like me logo Genes that share phenotypes with ATP2B1: view

Animal Models for ATP2B1 Gene

MGI Knock Outs for ATP2B1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP2B1

CRISPR Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP2B1 Gene

Localization for ATP2B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP2B1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP2B1 Gene COMPARTMENTS Subcellular localization image for ATP2B1 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
cytosol 3
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for ATP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 8396145
GO:0016020 membrane IEA,IDA 19946888
GO:0032590 dendrite membrane IEA --
GO:0032809 neuronal cell body membrane IEA --
genes like me logo Genes that share ontologies with ATP2B1: view

Pathways & Interactions for ATP2B1 Gene

genes like me logo Genes that share pathways with ATP2B1: view

Gene Ontology (GO) - Biological Process for ATP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003407 neural retina development IEA --
GO:0007420 brain development IEA --
GO:0007596 blood coagulation TAS --
GO:1903779 regulation of cardiac conduction TAS --
genes like me logo Genes that share ontologies with ATP2B1: view

No data available for SIGNOR curated interactions for ATP2B1 Gene

Drugs & Compounds for ATP2B1 Gene

(4) Drugs for ATP2B1 Gene - From: HMDB, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
calcium Nutra 0
Antihypertensives Pharma 0
Magnesium Nutra 0

(5) Additional Compounds for ATP2B1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with ATP2B1: view

Transcripts for ATP2B1 Gene

Unigene Clusters for ATP2B1 Gene

ATPase, Ca++ transporting, plasma membrane 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP2B1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1:
SP2: -
SP3: - -
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for ATP2B1 Gene

GeneLoc Exon Structure for
ATP2B1
ECgene alternative splicing isoforms for
ATP2B1

Expression for ATP2B1 Gene

mRNA expression in normal human tissues for ATP2B1 Gene

mRNA differential expression in normal tissues according to GTEx for ATP2B1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x5.0), Brain - Caudate (basal ganglia) (x4.8), Brain - Nucleus accumbens (basal ganglia) (x4.1), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for ATP2B1 Gene

This gene is overexpressed in Frontal cortex (17.6) and Brain (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP2B1 Gene



SOURCE GeneReport for Unigene cluster for ATP2B1 Gene Hs.506276

mRNA Expression by UniProt/SwissProt for ATP2B1 Gene

P20020-AT2B1_HUMAN
Tissue specificity: Isoform B is ubiquitously expressed. Isoform C is found in brain cortex, skeletal muscle and heart muscle. Isoform D has only been found in fetal skeletal muscle. Isoform K has been found in small intestine and liver.
genes like me logo Genes that share expression patterns with ATP2B1: view

Protein tissue co-expression partners for ATP2B1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ATP2B1 Gene

Orthologs for ATP2B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP2B1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP2B1 35
  • 95.16 (n)
  • 98.77 (a)
ATP2B1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2B1 35
  • 96.15 (n)
  • 99.43 (a)
ATP2B1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp2b1 35
  • 90.79 (n)
  • 99.51 (a)
Atp2b1 16
Atp2b1 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP2B1 35
  • 99.84 (n)
  • 100 (a)
ATP2B1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2b1 35
  • 88.58 (n)
  • 97.99 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP2B1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 91 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP2B1 35
  • 84.8 (n)
  • 94.68 (a)
ATP2B1 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2B1 36
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25538 35
zebrafish
(Danio rerio)
Actinopterygii atp2b1a 35
  • 73.73 (n)
  • 85.74 (a)
atp2b1a 36
  • 85 (a)
OneToMany
atp2b1b 36
  • 80 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BEST:CK01140 37
  • 63 (a)
PMCA 36
  • 59 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mca-1 37
  • 54 (a)
R05C11.3 37
  • 58 (a)
mca-1 36
  • 51 (a)
ManyToMany
mca-2 36
  • 58 (a)
ManyToMany
mca-3 36
  • 58 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMC1 36
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ACA11 35
  • 53.61 (n)
  • 47.72 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.8619 35
rice
(Oryza sativa)
Liliopsida Os12g0136900 35
  • 52.66 (n)
  • 45.4 (a)
corn
(Zea mays)
Liliopsida Zm.17277 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
OneToMany
Species with no ortholog for ATP2B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ATP2B1 Gene

ENSEMBL:
Gene Tree for ATP2B1 (if available)
TreeFam:
Gene Tree for ATP2B1 (if available)

Paralogs for ATP2B1 Gene

Paralogs for ATP2B1 Gene

Pseudogenes.org Pseudogenes for ATP2B1 Gene

genes like me logo Genes that share paralogs with ATP2B1: view

Variants for ATP2B1 Gene

Sequence variations from dbSNP and Humsavar for ATP2B1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_000698 -
rs957525 -- 89,607,038(+) AGTTC(C/T)ATGAT intron-variant
rs1050395 -- 89,635,124(-) AAGGA(A/G)AAACA nc-transcript-variant, reference, synonymous-codon
rs1050396 -- 89,635,202(-) ACTGG(G/T)TGGAT nc-transcript-variant, reference, synonymous-codon
rs1520183 -- 89,614,834(-) AGAAA(A/G)GAATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP2B1 Gene

Variant ID Type Subtype PubMed ID
nsv832479 CNV Gain 17160897

Variation tolerance for ATP2B1 Gene

Residual Variation Intolerance Score: 3.86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP2B1 Gene

HapMap Linkage Disequilibrium report
ATP2B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2B1 Gene

Disorders for ATP2B1 Gene

Relevant External Links for ATP2B1

Genetic Association Database (GAD)
ATP2B1
Human Genome Epidemiology (HuGE) Navigator
ATP2B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP2B1

No disorders were found for ATP2B1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP2B1 Gene

Publications for ATP2B1 Gene

  1. Structure of the gene encoding the human plasma membrane calcium pump isoform 1. (PMID: 8396145) Hilfiker H. … Strehler E.E. (J. Biol. Chem. 1993) 3 4 23 67
  2. Localization of two genes encoding plasma membrane Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23. (PMID: 1674727) Olson S. … McBride O.W. (Genomics 1991) 2 3 23
  3. Plasma membrane Ca2+ ATPase isoform 1 down-regulated in human oral cancer. (PMID: 16328033) Saito K. … Tanzawa H. (Oncol. Rep. 2006) 3 23
  4. Expression, purification, and characterization of isoform 1 of the plasma membrane Ca2+ pump: focus on calpain sensitivity. (PMID: 12851406) Guerini D. … Carafoli E. (J. Biol. Chem. 2003) 3 23
  5. Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. (PMID: 25249183) Lu X. … Gu D. (Hum. Mol. Genet. 2015) 3

Products for ATP2B1 Gene

Sources for ATP2B1 Gene

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