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    ATP2B4 ATPase plasma membrane Ca2+ transporting 4 [ Homo sapiens (human) ]

    Gene ID: 493, updated on 9-Jul-2017
    Official Symbol
    ATP2B4provided by HGNC
    Official Full Name
    ATPase plasma membrane Ca2+ transporting 4provided by HGNC
    Primary source
    HGNC:HGNC:817
    See related
    Ensembl:ENSG00000058668 MIM:108732; Vega:OTTHUMG00000035906
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MXRA1; PMCA4; ATP2B2; PMCA4b; PMCA4x
    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 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 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    1q32.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (203626787..203744081)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (203595915..203713209)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371688 Neighboring gene proline and arginine rich end leucine rich repeat protein Neighboring gene opticin Neighboring gene NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene Neighboring gene uncharacterized LOC102723543 Neighboring gene long intergenic non-protein coding RNA 260 Neighboring gene small nucleolar RNA, H/ACA box 77 Neighboring gene lymphocyte transmembrane adaptor 1 Neighboring gene zinc finger CCCH-type containing 11A Neighboring gene zinc finger BED-type containing 6

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genetic variants associated with breast size also influence breast cancer risk.
    NHGRI GWA Catalog
    Genome-wide association study indicates two novel resistance loci for severe malaria.
    NHGRI GWA Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    NHGRI GWA Catalog
    • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Ion homeostasis, organism-specific biosystem (from REACTOME)
      Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
    • Ion transport by P-type ATPases, organism-specific biosystem (from REACTOME)
      Ion transport by P-type ATPases, organism-specific biosystemThe P-type ATPases (E1-E2 ATPases) are a large group of evolutionarily related ion pumps that are found in bacteria, archaea and eukaryotes. They are referred to as P-type ATPases because they catal...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Pancreatic secretion, organism-specific biosystem (from KEGG)
      Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Pancreatic secretion, conserved biosystem (from KEGG)
      Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Platelet calcium homeostasis, organism-specific biosystem (from REACTOME)
      Platelet calcium homeostasis, organism-specific biosystemCa2+ homeostasis is controlled by processes that elevate or counter the elevation of cytosolic Ca2+. During steady state conditions, cytoplasmic Ca2+ is reduced by the accumulation of Ca2+ in intrac...
    • Platelet homeostasis, organism-specific biosystem (from REACTOME)
      Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...
    • Reduction of cytosolic Ca++ levels, organism-specific biosystem (from REACTOME)
      Reduction of cytosolic Ca++ levels, organism-specific biosystemDuring steady state conditions, cytoplasmic [Ca2+] is reduced by the accumulation of Ca2+ in intracellular stores and Ca2+ extrusion.
    • Salivary secretion, organism-specific biosystem (from KEGG)
      Salivary secretion, organism-specific biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
    • Salivary secretion, conserved biosystem (from KEGG)
      Salivary secretion, conserved biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • cAMP signaling pathway, organism-specific biosystem (from KEGG)
      cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    • cAMP signaling pathway, conserved biosystem (from KEGG)
      cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
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    • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
      cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686M088, DKFZp686G08106

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    PDZ domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium-transporting ATPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calcium-transporting ATPase activity TAS
    Traceable Author Statement
    more info
     
    calmodulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nitric-oxide synthase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nitric-oxide synthase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to nitric-oxide synthase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphatase 2B binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    scaffold protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    contributes_to sodium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    ATP hydrolysis coupled cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion export IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion import across plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    calcium ion transmembrane import into cytosol IC
    Inferred by Curator
    more info
    PubMed 
    calcium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular calcium ion homeostasis IC
    Inferred by Curator
    more info
    PubMed 
    cellular calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to epinephrine stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    negative regulation of adrenergic receptor signaling pathway involved in heart process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of arginine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of calcineurin-NFAT signaling cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cardiac muscle hypertrophy in response to stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of citrulline biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of nitric oxide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of nitric oxide mediated signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of nitric-oxide synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of peptidyl-cysteine S-nitrosylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of the force of heart contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neural retina development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cAMP-dependent protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cardiac conduction TAS
    Traceable Author Statement
    more info
     
    regulation of cell cycle G1/S phase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of sodium ion transmembrane transport IC
    Inferred by Curator
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to hydrostatic pressure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    T-tubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    caveola TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    protein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sperm principal piece IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    plasma membrane calcium-transporting ATPase 4
    Names
    ATPase, Ca++ transporting, plasma membrane 4
    matrix-remodeling-associated protein 1
    sarcolemmal calcium pump
    NP_001001396.1
    NP_001675.3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029589.1 RefSeqGene

      Range
      5001..122295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001396.2NP_001001396.1  plasma membrane calcium-transporting ATPase 4 isoform 4a

      See identical proteins and their annotated locations for NP_001001396.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (4a).
      Source sequence(s)
      AC114402, AL706212, AW888226, BF985985, BX537444, DN997129, M83363
      Consensus CDS
      CCDS30977.1
      UniProtKB/Swiss-Prot
      P23634
      Related
      ENSP00000356187.3, ENST00000367218.7
      Conserved Domains (7) summary
      TIGR01517
      Location:201052
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam00122
      Location:153454
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:8681049
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam00690
      Location:47111
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      pfam12424
      Location:10891151
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
      pfam12710
      Location:655794
      HAD; haloacid dehalogenase-like hydrolase
      pfam13246
      Location:515604
      Cation_ATPase; Cation transport ATPase (P-type)
    2. NM_001684.4NP_001675.3  plasma membrane calcium-transporting ATPase 4 isoform 4b

      See identical proteins and their annotated locations for NP_001675.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (4b) has a longer and distinct C-terminus compared to isoform 4a.
      Source sequence(s)
      AC114402, AL706212, AW888226, BF985985, BX537444, DN997129, M25874
      Consensus CDS
      CCDS1440.1
      UniProtKB/Swiss-Prot
      P23634
      UniProtKB/TrEMBL
      A0A024R968
      Related
      ENSP00000350310.5, OTTHUMP00000034088, ENST00000357681.9, OTTHUMT00000087462
      Conserved Domains (7) summary
      TIGR01517
      Location:201052
      ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
      pfam00122
      Location:153454
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:8681049
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam00690
      Location:47111
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      pfam12424
      Location:10891136
      ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
      pfam12710
      Location:655794
      HAD; haloacid dehalogenase-like hydrolase
      pfam13246
      Location:515604
      Cation_ATPase; Cation transport ATPase (P-type)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      203626787..203744081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      205019430..205136718
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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