Human Gene ATP2B1 (ENST00000428670.8)
  Description: Homo sapiens ATPase plasma membrane Ca2+ transporting 1 (ATP2B1), transcript variant 8, mRNA. (from RefSeq NM_001366525)
RefSeq Summary (NM_001366521): 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].
Gencode Transcript: ENST00000428670.8
Gencode Gene: ENSG00000070961.16
Transcript (Including UTRs)
   Position: hg38 chr12:89,588,049-89,708,838 Size: 120,790 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg38 chr12:89,590,984-89,655,886 Size: 64,903 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:89,588,049-89,708,838)mRNA (may differ from genome)Protein (1220 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: AT2B1_HUMAN
DESCRIPTION: RecName: Full=Plasma membrane calcium-transporting ATPase 1; Short=PMCA1; EC=3.6.3.8; AltName: Full=Plasma membrane calcium ATPase isoform 1; AltName: Full=Plasma membrane calcium pump isoform 1;
FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.
CATALYTIC ACTIVITY: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
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.
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.
SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.

-  MalaCards Disease Associations
  MalaCards Gene Search: ATP2B1
Diseases sorted by gene-association score: deafness, autosomal dominant 25 (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 46.51 RPKM in Brain - Caudate (basal ganglia)
Total median expression: 554.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -159.20464-0.343 Picture PostScript Text
3' UTR -681.272935-0.232 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR022141 - ATP_Ca_trans_C
IPR023306 - ATPase_cation_domN
IPR008250 - ATPase_P-typ_ATPase-assoc-dom
IPR006408 - ATPase_P-typ_Ca-transp_PMCA
IPR006068 - ATPase_P-typ_cation-transptr_C
IPR004014 - ATPase_P-typ_cation-transptr_N
IPR023300 - ATPase_P-typ_cyto_domA
IPR023299 - ATPase_P-typ_cyto_domN
IPR001757 - ATPase_P-typ_ion-transptr
IPR018303 - ATPase_P-typ_P_site
IPR023298 - ATPase_P-typ_TM_dom
IPR005834 - Dehalogen-like_hydro
IPR023214 - HAD-like_dom

Pfam Domains:
PF12424 - Plasma membrane calcium transporter ATPase C terminal
PF00689 - Cation transporting ATPase, C-terminus
PF00690 - Cation transporter/ATPase, N-terminus
PF00122 - E1-E2 ATPase
PF00702 - haloacid dehalogenase-like hydrolase

ModBase Predicted Comparative 3D Structure on P20020
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005388 calcium-transporting ATPase activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0015085 calcium ion transmembrane transporter activity
GO:0016787 hydrolase activity
GO:0030165 PDZ domain binding
GO:0046872 metal ion binding

Biological Process:
GO:0003407 neural retina development
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0007420 brain development
GO:0007568 aging
GO:0009409 response to cold
GO:0034220 ion transmembrane transport
GO:0051480 regulation of cytosolic calcium ion concentration
GO:0070588 calcium ion transmembrane transport
GO:0071305 cellular response to vitamin D
GO:0071386 cellular response to corticosterone stimulus
GO:0099132 ATP hydrolysis coupled cation transmembrane transport
GO:1901660 calcium ion export
GO:1903779 regulation of cardiac conduction
GO:1990034 calcium ion export from cell

Cellular Component:
GO:0005634 nucleus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009898 cytoplasmic side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0032590 dendrite membrane
GO:0032591 dendritic spine membrane
GO:0032809 neuronal cell body membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0045121 membrane raft
GO:0045177 apical part of cell
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF208876 - JP 2014500723-A/16379: Polycomb-Associated Non-Coding RNAs.
MA444453 - JP 2018138019-A/16379: Polycomb-Associated Non-Coding RNAs.
J04027 - Human plasma membrane Ca2+ pumping ATPase mRNA, complete cds.
M95541 - Homo sapiens adenosine triphosphatase mRNA, complete cds.
BC015346 - Homo sapiens ATPase, Ca++ transporting, plasma membrane 1, mRNA (cDNA clone IMAGE:4420313), partial cds.
BC172868 - Synthetic construct Homo sapiens clone IMAGE:9094444 plasma membrane calcium ATPase 1 isoform 1b (ATP2B1) gene, partial cds.
AF070606 - Homo sapiens clone 24411 mRNA sequence.
AK027053 - Homo sapiens cDNA: FLJ23400 fis, clone HEP18558, highly similar to HUMPMPCA Human plasma membrane Ca2+ pumping ATPase mRNA.
LF323660 - JP 2014500723-A/131163: Polycomb-Associated Non-Coding RNAs.
MA559237 - JP 2018138019-A/131163: Polycomb-Associated Non-Coding RNAs.
LF323659 - JP 2014500723-A/131162: Polycomb-Associated Non-Coding RNAs.
MA559236 - JP 2018138019-A/131162: Polycomb-Associated Non-Coding RNAs.
AB208896 - Homo sapiens mRNA for plasma membrane calcium ATPase 1 isoform 1a variant protein.
JD215643 - Sequence 196667 from Patent EP1572962.
JD400742 - Sequence 381766 from Patent EP1572962.
LF323658 - JP 2014500723-A/131161: Polycomb-Associated Non-Coding RNAs.
MA559235 - JP 2018138019-A/131161: Polycomb-Associated Non-Coding RNAs.
AK308723 - Homo sapiens cDNA, FLJ98764.
AK024895 - Homo sapiens cDNA: FLJ21242 fis, clone COL01154, highly similar to HUMPMPCA Human plasma membrane Ca2+ pumping ATPase mRNA.
S49852 - plasma membrane Ca2+ pump isoform 1a {alternatively spliced} [human, fetal brain, mRNA Partial, 769 nt].
M95542 - Homo sapiens adenosine triphosphatase mRNA, complete cds.
JD469800 - Sequence 450824 from Patent EP1572962.
JD367326 - Sequence 348350 from Patent EP1572962.
JD509008 - Sequence 490032 from Patent EP1572962.
BC172870 - Synthetic construct Homo sapiens clone IMAGE:9094446 plasma membrane calcium ATPase 1 isoform 1b (ATP2B1) gene, partial cds.
AY740526 - Homo sapiens plasma membrane calcium-ATPase isoform 1b (ATP2B1) mRNA, partial cds.
DQ201776 - Homo sapiens PMCA1kb (ATP2B1) mRNA, partial cds.
LF323657 - JP 2014500723-A/131160: Polycomb-Associated Non-Coding RNAs.
MA559234 - JP 2018138019-A/131160: Polycomb-Associated Non-Coding RNAs.
LF323656 - JP 2014500723-A/131159: Polycomb-Associated Non-Coding RNAs.
MA559233 - JP 2018138019-A/131159: Polycomb-Associated Non-Coding RNAs.
U15686 - Human clone hPMCA1a alternatively spliced plasma membrane calcium pump (ATP2B1) mRNA, partial cds.
U15687 - Human clone hPMCA1e alternatively spliced plasma membrane calcium pump (ATP2B1) mRNA, partial cds.
LF323655 - JP 2014500723-A/131158: Polycomb-Associated Non-Coding RNAs.
MA559232 - JP 2018138019-A/131158: Polycomb-Associated Non-Coding RNAs.
LF323654 - JP 2014500723-A/131157: Polycomb-Associated Non-Coding RNAs.
MA559231 - JP 2018138019-A/131157: Polycomb-Associated Non-Coding RNAs.
LF323653 - JP 2014500723-A/131156: Polycomb-Associated Non-Coding RNAs.
MA559230 - JP 2018138019-A/131156: Polycomb-Associated Non-Coding RNAs.
LF323651 - JP 2014500723-A/131154: Polycomb-Associated Non-Coding RNAs.
MA559228 - JP 2018138019-A/131154: Polycomb-Associated Non-Coding RNAs.
LF323649 - JP 2014500723-A/131152: Polycomb-Associated Non-Coding RNAs.
MA559226 - JP 2018138019-A/131152: Polycomb-Associated Non-Coding RNAs.
LF323648 - JP 2014500723-A/131151: Polycomb-Associated Non-Coding RNAs.
MA559225 - JP 2018138019-A/131151: Polycomb-Associated Non-Coding RNAs.
LF323647 - JP 2014500723-A/131150: Polycomb-Associated Non-Coding RNAs.
MA559224 - JP 2018138019-A/131150: Polycomb-Associated Non-Coding RNAs.
BC172869 - Synthetic construct Homo sapiens clone IMAGE:9094445 plasma membrane calcium ATPase 1 isoform 1b (ATP2B1) gene, partial cds.
LF323641 - JP 2014500723-A/131144: Polycomb-Associated Non-Coding RNAs.
MA559218 - JP 2018138019-A/131144: Polycomb-Associated Non-Coding RNAs.
LF323640 - JP 2014500723-A/131143: Polycomb-Associated Non-Coding RNAs.
MA559217 - JP 2018138019-A/131143: Polycomb-Associated Non-Coding RNAs.
LF323639 - JP 2014500723-A/131142: Polycomb-Associated Non-Coding RNAs.
MA559216 - JP 2018138019-A/131142: Polycomb-Associated Non-Coding RNAs.
LF323638 - JP 2014500723-A/131141: Polycomb-Associated Non-Coding RNAs.
MA559215 - JP 2018138019-A/131141: Polycomb-Associated Non-Coding RNAs.
LF323637 - JP 2014500723-A/131140: Polycomb-Associated Non-Coding RNAs.
MA559214 - JP 2018138019-A/131140: Polycomb-Associated Non-Coding RNAs.
LF323636 - JP 2014500723-A/131139: Polycomb-Associated Non-Coding RNAs.
MA559213 - JP 2018138019-A/131139: Polycomb-Associated Non-Coding RNAs.
LF323634 - JP 2014500723-A/131137: Polycomb-Associated Non-Coding RNAs.
MA559211 - JP 2018138019-A/131137: Polycomb-Associated Non-Coding RNAs.
LF323633 - JP 2014500723-A/131136: Polycomb-Associated Non-Coding RNAs.
MA559210 - JP 2018138019-A/131136: Polycomb-Associated Non-Coding RNAs.
LF323631 - JP 2014500723-A/131134: Polycomb-Associated Non-Coding RNAs.
MA559208 - JP 2018138019-A/131134: Polycomb-Associated Non-Coding RNAs.
LF323629 - JP 2014500723-A/131132: Polycomb-Associated Non-Coding RNAs.
MA559206 - JP 2018138019-A/131132: Polycomb-Associated Non-Coding RNAs.
LF323628 - JP 2014500723-A/131131: Polycomb-Associated Non-Coding RNAs.
MA559205 - JP 2018138019-A/131131: Polycomb-Associated Non-Coding RNAs.
JD357113 - Sequence 338137 from Patent EP1572962.
LF323627 - JP 2014500723-A/131130: Polycomb-Associated Non-Coding RNAs.
MA559204 - JP 2018138019-A/131130: Polycomb-Associated Non-Coding RNAs.
JD295168 - Sequence 276192 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein P20020 (Reactome details) participates in the following event(s):

R-HSA-418309 ATP2B1-4 transport cytosolic Ca2+ to extracellular region
R-HSA-418359 Reduction of cytosolic Ca++ levels
R-HSA-936837 Ion transport by P-type ATPases
R-HSA-5578775 Ion homeostasis
R-HSA-418360 Platelet calcium homeostasis
R-HSA-983712 Ion channel transport
R-HSA-5576891 Cardiac conduction
R-HSA-418346 Platelet homeostasis
R-HSA-382551 Transport of small molecules
R-HSA-397014 Muscle contraction
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: AT2B1_HUMAN, ENST00000428670.1, ENST00000428670.2, ENST00000428670.3, ENST00000428670.4, ENST00000428670.5, ENST00000428670.6, ENST00000428670.7, NM_001366525, P20020, PMCA1, Q12992, Q12993, Q13819, Q13820, Q13821, Q16504, Q93082, uc058rpj.1, uc058rpj.2
UCSC ID: ENST00000428670.8
RefSeq Accession: NM_001366521
Protein: P20020 (aka AT2B1_HUMAN or ATB1_HUMAN)
CCDS: CCDS9035.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.