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    PLN phospholamban [ Homo sapiens (human) ]

    Gene ID: 5350, updated on 21-May-2017
    Official Symbol
    PLNprovided by HGNC
    Official Full Name
    phospholambanprovided by HGNC
    Primary source
    HGNC:HGNC:9080
    See related
    Ensembl:ENSG00000198523 MIM:172405; Vega:OTTHUMG00000015462
    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
    PLB; CMD1P; CMH18
    Summary
    The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure, and also familial hypertrophic cardiomyopathy. [provided by RefSeq, Apr 2016]
    Orthologs
    Location:
    6q22.31
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (118548263..118561715)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (118869442..118881587)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377971 Neighboring gene centrosomal protein 85 like Neighboring gene bromodomain containing 7 pseudogene 3 Neighboring gene uncharacterized LOC107986524 Neighboring gene SSX family pseudogene 10

    • 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
    Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.
    NHGRI GWA Catalog
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    NHGRI GWA Catalog
    Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
    NHGRI GWA Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    NHGRI GWA Catalog
    Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
    NHGRI GWA Catalog
    Impact of ancestry and common genetic variants on QT interval in African Americans.
    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 Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
      Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
    • 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 ...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • 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.
    • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
      Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
    • 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)
      cGMP-PKG signaling pathway, organism-specific 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...
    • 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    ATPase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium channel regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    adrenergic receptor signaling pathway involved in heart process IEA
    Inferred from Electronic Annotation
    more info
     
    blood circulation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    calcium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of ATPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of calcium ion import ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of calcium ion import into sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of calcium ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of calcium ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of calcium-transporting ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of catalytic activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of calcium-transporting ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cardiac conduction TAS
    Traceable Author Statement
    more info
     
    regulation of cardiac muscle cell contraction IC
    Inferred by Curator
    more info
    PubMed 
    regulation of cardiac muscle cell membrane potential IC
    Inferred by Curator
    more info
    PubMed 
    regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cytosolic calcium ion concentration IC
    Inferred by Curator
    more info
    PubMed 
    regulation of heart contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of relaxation of cardiac muscle IC
    Inferred by Curator
    more info
    PubMed 
    regulation of ryanodine-sensitive calcium-release channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of the force of heart contraction IC
    Inferred by Curator
    more info
    PubMed 
    regulation of the force of heart contraction by cardiac conduction IEA
    Inferred from Electronic Annotation
    more info
     
    relaxation of cardiac muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    calcium ion-transporting ATPase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein complex IEA
    Inferred from Electronic Annotation
    more info
     
    sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    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_009082.1 RefSeqGene

      Range
      5001..17146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_390

    mRNA and Protein(s)

    1. NM_002667.4NP_002658.1  cardiac phospholamban

      See identical proteins and their annotated locations for NP_002658.1

      Status: REVIEWED

      Source sequence(s)
      AK129844, BC005269, BP257094, M63603, N80934
      Consensus CDS
      CCDS5120.1
      UniProtKB/Swiss-Prot
      P26678
      UniProtKB/TrEMBL
      Q5R352
      Related
      ENSP00000350132.5, OTTHUMP00000017092, ENST00000357525.5, OTTHUMT00000041993
      Conserved Domains (1) summary
      TIGR01294
      Location:152
      P_lamban; phospholamban

    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_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      118548263..118561715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      119133471..119146919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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