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FLASH GENE
Symbol ATP2B1 contributors: mct - updated : 26-03-2014
HGNC name ATPase, Ca++ transporting, plasma membrane 1
HGNC id 814
Location 12q21.3      Physical location : 89.981.827 - 90.049.844
Synonym name
  • plasma membrane calcium pump isoform 1
  • plasma membrane calcium-ATPase isoform 1b
  • Synonym symbol(s) PMCA1, PMCA
    EC.number 3.6.1.38
    DNA
    TYPE functioning gene
    STRUCTURE 68.19 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   HRE
    motif
    text structure vitamin D response element
    MAPPING cloned Y linked   status provisional
    Physical map
    NTT73 12q21.3-q21.4 plexin C1 LOC390349 12 similar to Small nuclear ribonucleoprotein Sm D2 (snRNP core protein D2) (Sm-D2) LOC144448 12q21.31 similar to CD63 antigen (AD1 antigen) FLJ12303 12q21 hypothetical protein FLJ12303 LOC283393 12q21.31 hypothetical LOC283393 CART1 12q21.3-q22 cartilage paired-class homeoprotein 1 PAMCI 12q21.32 peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor NTS 12q21 neurotensin HGNT-IV-H 12q21 UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV-homolog HCP30 12q21.33 cytochrome c, somatic pseudogene LOC160420 12q21.33 similar to Makorin 1 FLJ35821 12q21.33 hypothetical protein FLJ35821 DKFZp434N2030 12q21.33 hypothetical protein DKFZp434N2030 KIAA0373 12q21-q22 hypothetical protein DKFZp434N2030 FLJ13615 12q21.33 hypothetical protein FLJ13615 FLJ90492 12q21.33 hypothetical protein FLJ90492 KITLG 12q22 KIT ligand MRPS6P4 12q21 mitochondrial ribosomal protein S6 pseudogene 4 DUSP6 12q21 dual specificity phosphatase 6 TUWD12 12q21.33 TUWD12 CENPC2 12q21.2-q21.33 centromere protein C2, 140kDa GALNT4 12q21.3-q22 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) ATP2B1 12q21-q23 ATPase, Ca++ transporting, plasma membrane 1 MRPL2P1 12q21.33 ATPase, Ca++ transporting, plasma membrane 1 FLJ25378 12q22 hypothetical protein FLJ25378 MGC26598 12q22 hypothetical protein MGC26598 DSPG3 12q21.3-q22 dermatan sulfate proteoglycan 3 KERA 12q22 keratocan LUM 12q21.3-q22 lumican DCN 12q13.2 decorin BTG1 12q22 B-cell translocation gene 1, anti-proliferative LOC387872 12 hypothetical gene supported by BC044741 LOC390351 12 similar to 60S ribosomal protein L21 LOC283388 12q22 similar to guanine nucleotide exchange factor (1B384) EEA1 12q21.31 early endosome antigen 1, 162kD LOC341444 12q22 similar to alpha NAC/1.9.2. protein LOC387873 12 LOC387873 NUDT4 12q21 nudix (nucleoside diphosphate linked moiety X)-type motif 4 UBE2N 12q21.33 ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast) MRPL42 12q22 mitochondrial ribosomal protein L42 SOCS2 12q21.3-q23 suppressor of cytokine signaling 2 LOC144483 12q22 similar to Phosphoglycerate mutase 1 (Phosphoglycerate mutase isozyme B) (PGAM-B) (BPG-dependent PGAM 1) CRADD 12q21.33-q23.1 CASP2 and RIPK1 domain containing adaptor with death domain PLXNC1 12q23.3 plexin C1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 6950 - 1176 - 1992 1332771
  • isoform 1A
  • 20 - 6796 - 1220 ubiquitous 1992 1332771
  • isoform 1b
  • HOMER proteins bind to the PDZ binding domain on the carboxyl terminus of PMCA “b” splice variants
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunelymph node   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • calmodulin-binding subdomain B is different in the different splice variants
  • 10 transmembrane domains
  • two large intracellular loops
  • and N- and C-terminal cytoplasmic tails
  • a C-terminal domain referred to as a regulatory domain
  • HOMOLOGY
    Homologene
    FAMILY cation transport ATPase (P-type) family, type IIB subfamily
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating the extrusion of CA2+ from the cell
  • magnesium-dependent enzyme catalyzing the hydrolysis of ATP coupled with the transport of calcium out of the cell
  • playing an essential role in the intracellular Ca(2+) extrusion of syncytiotrophoblast-like structure originating from the differentiation of cultured trophoblast cells isolated from term placenta
  • playing a role in the regulation of calcium fluxes in mammary gland epithelial cells, rather than direct transport of calcium into milk
  • extrude Ca2+ from cells, maintaining the resting level of intracellular Ca2+ and controlling the Ca2+ transients induced by agonists
  • importance of oligomerization for the regulation of ATP2B1 activity and intracellular calcium concentration
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • formation of the STIM1–SLC35G1 complex with ATP2B1 attenuates Ca2+ pump activity and may sustain cytosolic Ca2+ elevation
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with DLG4 and MPP4 (both scaffold proteins DLG4 and MPP4 are essential for the modulation of ATP2B1 levels at the presynaptic plasma membrane and thereby influence the photoreceptor synaptic calcium handling)
  • ATP2B1 mediated Ca2+ clearance from hippocampal neurons was accelerated in the presence of HOMER proteins
  • functional role for EPB41 in small intestinal calcium absorption through regulation of membrane expression of PMCA1
  • presynaptic control of SLC6A5 by physical and functional association with plasma membrane Ca2+-ATPase SLC8A1 and ATP2B1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in oral carcinogenesis
    Susceptibility to hypertension
    Variant & Polymorphism other common genetic variant in ATP2B1, associated with blood pressure levels and risk of hypertension
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS