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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
  • PMCA1 3 4
  • Plasma Membrane Calcium ATPase Isoform 1 4
  • Plasma Membrane Calcium Pump Isoform 1 4
  • Plasma Membrane Calcium Pump 3
  • EC 3.6.3.8 4
  • 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. Diseases associated with ATP2B1 include Deafness, Autosomal Dominant 25. Among its related pathways are C-MYB transcription factor network and Mineral absorption. Gene Ontology (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

Additional gene information for ATP2B1 Gene

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

Genomics for ATP2B1 Gene

GeneHancer (GH) Regulatory Elements for ATP2B1 Gene

Promoters and enhancers for ATP2B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J089705 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 655.2 +1.1 1071 6.2 HDGF PKNOX1 SMAD1 ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 ZNF213 ATP2B1 ATP2B1-AS1 ENSG00000258302 RNU6-148P ENSG00000257194
GH12J089655 Promoter/Enhancer 0.8 EPDnew ENCODE 650.2 +53.4 53445 1.6 ZNF316 ATP2B1 ATP2B1-AS1 ENSG00000258302
GH12J089959 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20 -252.7 -252700 6 PKNOX1 ZNF493 ZFP64 ZNF133 FEZF1 YBX1 IRF4 YY1 ZNF121 ZNF213 ATP2B1 ENSG00000258302 POC1B LINC02399 LOC105369890 GC12M089953 ENSG00000258216
GH12J089731 Enhancer 1.4 FANTOM5 Ensembl ENCODE 19.7 -23.7 -23659 3.8 HDAC1 PKNOX1 ATF1 MZF1 ZBTB40 TCF12 FOS ATF7 RUNX3 CREM ATP2B1 DUSP6 RNU6-148P RNA5SP365 MRPL2P1
GH12J089942 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16 -238.1 -238138 9.6 PKNOX1 SMAD1 ZFP64 SIN3A FEZF1 ZNF2 IRF4 ZNF213 FOS DEK LINC02399 ATP2B1 ENSG00000258302 POC1B ATP2B1-AS1 BRWD1P2 LOC105369890 ENSG00000258216
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP2B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP2B1 gene promoter:

Genomic Locations for ATP2B1 Gene

Genomic Locations for ATP2B1 Gene
chr12:89,588,049-89,709,353
(GRCh38/hg38)
Size:
121,305 bases
Orientation:
Minus strand
chr12:89,981,826-90,103,077
(GRCh37/hg19)

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

Post-translational modifications for ATP2B1 Gene

  • Ubiquitination at Lys634, posLast=622622, posLast=256256, posLast=6262, and posLast=1919
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ATP2B1 Gene

Domains & Families for ATP2B1 Gene

Gene Families for ATP2B1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted membrane proteins

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

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

Enzyme Numbers (IUBMB) for ATP2B1 Gene

Phenotypes From GWAS Catalog 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 TAS,IBA --
GO:0005515 protein binding IPI 18029012
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
GO:0015085 calcium ion transmembrane transporter activity IDA 18029012
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B1

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8396145
GO:0009898 cytoplasmic side of plasma membrane IEA --
GO:0016020 membrane HDA 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:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis IBA --
GO:0007420 brain development IEA --
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
calcium Approved Nutra 0
Water Approved Pharma 0
Magnesium Approved Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
Antihypertensives Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B1

Clone 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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for ATP2B1 Gene

  • Nervous system(4.9)
  • Intestine(4.5)
  • Muscle(4.5)
  • Blood(4.4)
  • Bone(4.3)
  • Liver(4.2)
  • Eye(2.3)
  • Kidney(2.3)
  • Heart(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ATP2B1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2B1 34 33
  • 96.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP2B1 34 33
  • 95.16 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP2B1 34
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Atp2b1 16 34 33
  • 90.79 (n)
rat
(Rattus norvegicus)
Mammalia Atp2b1 33
  • 88.58 (n)
chicken
(Gallus gallus)
Aves ATP2B1 34 33
  • 84.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2B1 34
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25538 33
zebrafish
(Danio rerio)
Actinopterygii atp2b1b 34
  • 80 (a)
OneToMany
atp2b1a 34 33
  • 73.73 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BEST:CK01140 35
  • 63 (a)
PMCA 34
  • 59 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mca-3 34
  • 58 (a)
ManyToMany
mca-2 34
  • 58 (a)
ManyToMany
R05C11.3 35
  • 58 (a)
mca-1 34 35
  • 51 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMC1 34
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ACA11 33
  • 53.61 (n)
rice
(Oryza sativa)
Liliopsida Os12g0136900 33
  • 52.66 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.8619 33
corn
(Zea mays)
Liliopsida Zm.17277 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP2B1: view image

Paralogs for ATP2B1 Gene

Paralogs for ATP2B1 Gene

(6) SIMAP similar genes for ATP2B1 Gene using alignment to 7 proteins:

  • AT2B1_HUMAN
  • A1X4P7_HUMAN
  • E7ERY9_HUMAN
  • F8W1V5_HUMAN
  • H0YHH6_HUMAN
  • Q3L582_HUMAN
  • Q58F24_HUMAN

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 Variation AA Info Type
rs1000005941 -- 89,635,551(-) G/T intron_variant
rs1000008928 -- 89,637,487(-) C/G intron_variant
rs1000020556 -- 89,684,885(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000051988 -- 89,708,955(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000064993 -- 89,668,198(-) C/A genic_upstream_transcript_variant, 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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for ATP2B1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal dominant 25
  • dfna25
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP2B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATP2B1: view

No data available for 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 EE (The Journal of biological chemistry 1993) 3 4 22 58
  2. Localization of two genes encoding plasma membrane Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23. (PMID: 1674727) Olson S … McBride OW (Genomics 1991) 2 3 22 58
  3. Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. (PMID: 21572416) Kato N … He J (Nature genetics 2011) 3 44 58
  4. POST, partner of stromal interaction molecule 1 (STIM1), targets STIM1 to multiple transporters. (PMID: 22084111) Krapivinsky G … Clapham DE (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4 58
  5. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PMID: 21909110) Wain LV … van Duijn CM (Nature genetics 2011) 3 44 58

Products for ATP2B1 Gene

Sources for ATP2B1 Gene

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