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Aliases for ATP2B1 Gene

Aliases for ATP2B1 Gene

  • ATPase Plasma Membrane Ca2+ Transporting 1 2 3 5
  • Plasma Membrane Calcium-Transporting ATPase 1 2 3
  • ATPase, Ca++ Transporting, Plasma Membrane 1 2 3
  • EC 3.6.3.8 4 61
  • PMCA1 3 4
  • Plasma Membrane Calcium ATPase Isoform 1 4
  • Plasma Membrane Calcium Pump Isoform 1 4
  • Plasma Membrane Calcium Pump 3
  • EC 3.6.3 61
  • 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 Ion channel transport and Cardiac conduction. GO annotations related to this gene include nucleotide binding and calcium-transporting ATPase activity. An important paralog of this gene is ATP2B2.

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

Enhancers for ATP2B1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F089959 1.6 FANTOM5 Ensembl ENCODE 20 -252.7 -252701 6.0 PKNOX1 ZFP64 ZNF493 ZNF133 YBX1 FEZF1 ZNF121 ZNF302 ZNF202 SP3 ATP2B1 ENSG00000258302 CENPCP1 POC1B LOC105369891 GC12M089953
GH12F089731 1.6 FANTOM5 Ensembl ENCODE 19.7 -23.7 -23660 3.8 HDAC1 PKNOX1 ATF1 TBL1XR1 FOS CREM USF2 CEBPB MEF2D ZNF589 ATP2B1 DUSP6 RNU6-148P RNA5SP365 MRPL2P1
GH12F089243 1.4 FANTOM5 Ensembl ENCODE 19.2 +464.5 464453 2.6 CTCF ATF1 ETV1 BHLHE40 MAX ZNF175 ETS1 GABPA TFDP1 ATF3 DUSP6 ATP2B1 RNU7-120P POC1B LOC105378255 GC12M089283
GH12F089942 1.6 FANTOM5 Ensembl ENCODE 16 -238.1 -238139 9.6 ATF1 PKNOX1 ZFP64 SIN3A FEZF1 BRCA1 ZNF2 KLF7 FOS YY2 ATP2B1 ENSG00000258302 CENPCP1 POC1B ATP2B1-AS1 LOC105369891 BRWD1P2
GH12F089861 1.5 FANTOM5 Ensembl ENCODE 14.8 -154.2 -154181 3.5 TBP WRNIP1 BMI1 RAD21 ZBTB40 YY1 EGR1 CBX5 ETV6 CREM ATP2B1 POC1B ENSG00000258216 RNU6-148P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP2B1 on UCSC Golden Path with GeneCards custom track

Promoters for ATP2B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000654048 453 5400 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF143 ZNF207

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

Selected DME Specific Peptides for ATP2B1 Gene

P20020:
  • LLSGTHVMEGSGRMVVTAVG
  • IPLIDDTD
  • VTAVGVNS
  • SSLTGES
  • IFCTIVLGTF
  • TIVFNTFV
  • VIEPMASEGLRTI
  • FDIDSGR
  • WLAECTP
  • VRMVTGDNINTA
  • QILWFRGLNRIQTQ
  • VTISLAYSV
  • FLGMGTLLWGQLISTIPTS
  • KDNNLVRHL
  • LWVNLIMDT
  • PYGRNKPLISRTMMKNILGHA
  • EQERIDK
  • LYKVYTF
  • LAVQIGKAGL
  • HPEFRIEDS
  • IPPKKPKTFL
  • MQLFNEINARKIHGERNVF
  • NTARAIATKCGIL
  • EASDIIL
  • LALATEPPT
  • DKTGTLT
  • PGEDFLCLEGK
  • VTAFNDWSKEKQFRGLQSRIE
  • EEELAEDVEEI
  • KILPPEKEG
  • LRVLARSSPTDKHTLVKGIIDS
  • QFQLTVN
  • AGITVRMVTG
  • QYFVKFFIIG
  • GWIEGAAIL
  • PGSPLHS
  • IRNEKGE
  • VGDIAQVKYGDLLPADG
  • GTDVAKEA
  • VGNKTEC
  • AFRSSLYEGLEKPE
  • IDSGRNAPLH
  • TQKEEIPEEEL
  • PPNILSYLVTGISVNCAYTSKILPPE
  • NINTARAIA
  • NSQTGIIFTLLGA
  • NRMTVVQ
  • VTGDGTND
  • KCQRAGITV
  • AAIVSLGLSFY
  • VWEALQD
  • MSAITVIILVLYF
  • GVTVLVV
  • MEMQPLKS
  • RIEQEQKF
  • SVRKSMSTV
  • DESSLTGE
  • IVQFGGKPFSCS
  • VVGIEDPVRPEVP
  • HAERELRR
  • AVPEGLPL

Post-translational modifications for ATP2B1 Gene

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

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:0005515 protein binding IPI 22084111
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity 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

Inhibitory RNA Products

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP2B1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 3
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for ATP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane TAS 8396145
GO:0009898 cytoplasmic side of plasma membrane IEA --
GO:0016020 membrane IDA 19946888
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:0006810 transport IEA,TAS 8396145
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis IBA --
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

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

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

(4) 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
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ATP2B1 Gene



Protein tissue co-expression partners for ATP2B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP2B1 Gene:

ATP2B1

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ATP2B1 34 35
  • 99.84 (n)
dog
(Canis familiaris)
Mammalia ATP2B1 34 35
  • 96.15 (n)
cow
(Bos Taurus)
Mammalia ATP2B1 34 35
  • 95.16 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP2B1 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
OneToMany
-- 35
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Atp2b1 34 16 35
  • 90.79 (n)
rat
(Rattus norvegicus)
Mammalia Atp2b1 34
  • 88.58 (n)
chicken
(Gallus gallus)
Aves ATP2B1 34 35
  • 84.8 (n)
lizard
(Anolis carolinensis)
Reptilia ATP2B1 35
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25538 34
zebrafish
(Danio rerio)
Actinopterygii atp2b1b 35
  • 80 (a)
OneToMany
atp2b1a 34 35
  • 73.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta BEST:CK01140 36
  • 63 (a)
PMCA 35
  • 59 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R05C11.3 36
  • 58 (a)
mca-2 35
  • 58 (a)
ManyToMany
mca-3 35
  • 58 (a)
ManyToMany
mca-1 36 35
  • 54 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMC1 35
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ACA11 34
  • 53.61 (n)
rice
(Oryza sativa)
Liliopsida Os12g0136900 34
  • 52.66 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.8619 34
corn
(Zea mays)
Liliopsida Zm.17277 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
OneToMany
Species where no ortholog for ATP2B1 was found in the sources mined by GeneCards:
  • 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
rs10219693 -- 89,633,628(+) CAATA(A/G)GCTTC 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
rs10506974 -- 89,592,559(+) TTAGT(C/T)CATAT intron-variant
rs10506975 -- 89,592,746(+) GAGAT(C/T)AAATT 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  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 22 64
  3. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PMID: 21909110) Wain L.V. … van Duijn C.M. (Nat. Genet. 2011) 3 46 64
  4. POST, partner of stromal interaction molecule 1 (STIM1), targets STIM1 to multiple transporters. (PMID: 22084111) Krapivinsky G. … Clapham D.E. (Proc. Natl. Acad. Sci. U.S.A. 2011) 3 4 64
  5. Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. (PMID: 21572416) Kato N. … He J. (Nat. Genet. 2011) 3 46 64

Products for ATP2B1 Gene

Sources for ATP2B1 Gene

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