Gene Gene information from NCBI Gene database.
Entrez ID 490
Gene name ATPase plasma membrane Ca2+ transporting 1
Gene symbol ATP2B1
Synonyms (NCBI Gene)
MRD66PMCA1PMCA1kb
Chromosome 12
Chromosome location 12q21.33
Summary 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
miRNA miRNA information provided by mirtarbase database.
434
miRTarBase ID miRNA Experiments Reference
MIRT005818 hsa-miR-204-5p Microarray 21282569
MIRT052579 hsa-let-7a-5p CLASH 23622248
MIRT039645 hsa-miR-615-3p CLASH 23622248
MIRT724532 hsa-miR-483-3p HITS-CLIP 19536157
MIRT136414 hsa-miR-6892-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
60
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001772 Component Immunological synapse IEA
GO:0001772 Component Immunological synapse ISS
GO:0001818 Process Negative regulation of cytokine production IEA
GO:0001818 Process Negative regulation of cytokine production ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
108731 814 ENSG00000070961
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20020
Protein name Plasma membrane calcium-transporting ATPase 1 (EC 7.2.2.10) (Plasma membrane calcium ATPase isoform 1) (PMCA1) (Plasma membrane calcium pump isoform 1)
Protein function Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis (PubMed:35358416). Plays a role in blood pressure regulation through regula
PDB 6A69
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00690 Cation_ATPase_N 51 121 Cation transporter/ATPase, N-terminus Domain
PF00122 E1-E2_ATPase 189 307 Family
PF00122 E1-E2_ATPase 347 453 Family
PF13246 Cation_ATPase 482 614 Family
PF00702 Hydrolase 658 809 Domain
PF00689 Cation_ATPase_C 879 1061 Cation transporting ATPase, C-terminus Family
PF12424 ATP_Ca_trans_C 1103 1149 Plasma membrane calcium transporter ATPase C terminal Family
Tissue specificity TISSUE SPECIFICITY: Isoform B: Ubiquitously expressed. Isoform C: Found in brain cortex, skeletal muscle and heart muscle. Isoform D: Has only been found in fetal skeletal muscle. Isoform K: Found in small intestine and liver. Abundantly expressed in the
Sequence
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGIC
TKLKTSPNEGLSGNPADLERREAVFGKNFIPPKKPKTFLQLVWEALQDVTLIILEIAAIV
S
LGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDE
SSLTGESDHVKKSLDKDPLLLSGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEEK
KDEKKKE
KKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFF
IIGVTVLVVAVPEGLPLAVTISLAYSVKKMMKD
NNLVRHLDACETMGNATAICSDKTGTL
TMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFS
KGASEIILKKCFKI
LSANGEAKVFRPRDRDDIVKTVIEPMASEGLRTICLAFRDFPAGEP
EPEWDNENDIVTGLTCIAVVGIEDPVRPEVPDAIKKCQRAGITVRMVTGDNINTARAIAT
KCGILHPGEDFLCLEGKDFNRRIRNEKGEIEQERIDKIWPKLRVLARSSPTDKHTLVKGI
IDSTVSDQRQVVAVTGDGTNDGPALKKAD
VGFAMGIAGTDVAKEASDIILTDDNFTSIVK
AVMWGRNVYDSISKFLQFQLTVNVVAVIVAFTGACITQDSPLKAVQMLWVNLIMDTLASL
ALATEPPTESLLLRKPYGRNKPLISRTMMKNILGHAFYQLVVVFTLLFAGEKFFDIDSGR
NAPLHAPPSEHYTIVFNTFVLMQLFNEINARKIHGERNVFEGIFNNAIFCTIVLGTFVVQ
IIIVQFGGKPFSCSELSIEQWLWSIFLGMGTLLWGQLISTI
PTSRLKFLKEAGHGTQKEE
IPEEELAEDVEEIDHAERELRRGQILWFRGLNRIQTQIRVVNAFRSSLYEGLEKPESRSS
IHNFMTHPE
FRIEDSEPHIPLIDDTDAEDDAPTKRNSSPPPSPNKNNNAVDSGIHLTIEM
NKSATSSSPGSPLHSLETSL
Sequence length 1220
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Adrenergic signaling in cardiomyocytes
Aldosterone synthesis and secretion
Endocrine and other factor-regulated calcium reabsorption
Salivary secretion
Pancreatic secretion
Mineral absorption
  Reduction of cytosolic Ca++ levels
Ion homeostasis
Ion transport by P-type ATPases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
47
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATP2B1-related disorder Likely pathogenic rs2540804470 RCV003397499
Clubfoot Likely pathogenic rs2135942244, rs370810713 RCV002266029
RCV002266030
Hypocalcemia Likely pathogenic rs2135942244, rs370810713 RCV002266029
RCV002266030
Intellectual developmental disorder, autosomal dominant 66 Likely pathogenic; Pathogenic rs2136192267, rs2136158725, rs2136106360, rs1033577592, rs2136193860, rs2136050284, rs1883642606, rs2540804225, rs1879993052 RCV002260718
RCV002260719
RCV002260720
RCV002260721
RCV002260722
RCV002294523
RCV003387661
RCV003484444
RCV004762034
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atherosclerosis Associate 29902063
Autistic Disorder Associate 35358416
Breast Neoplasms Associate 35031021
Cardio Renal Syndrome Associate 26534935
Cardiotoxicity Associate 28851949
Cardiotoxicity Inhibit 28851949
Cerebellar Ataxia Associate 36207321
Cerebral Infarction Associate 31173308
Colorectal Neoplasms Associate 35194111, 37629096
Constriction Pathologic Associate 29902063