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    PLN phospholamban [ Homo sapiens (human) ]

    Gene ID: 5350, updated on 7-Sep-2023

    Summary

    Official Symbol
    PLNprovided by HGNC
    Official Full Name
    phospholambanprovided by HGNC
    Primary source
    HGNC:HGNC:9080
    See related
    Ensembl:ENSG00000198523 MIM:172405; AllianceGenome:HGNC:9080
    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]
    Expression
    Biased expression in heart (RPKM 615.2), gall bladder (RPKM 62.5) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See PLN in Genome Data Viewer
    Location:
    6q22.31
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (118548296..118561716)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (119733450..119746868)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (118869459..118882879)

    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 VISTA enhancer hs2188 Neighboring gene uncharacterized LOC107986524 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:118894930-118896129 Neighboring gene SSX family pseudogene 10

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.
    EBI GWAS Catalog
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    EBI GWAS Catalog
    Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
    EBI GWAS Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog
    Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
    EBI GWAS Catalog
    Impact of ancestry and common genetic variants on QT interval in African Americans.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables ATPase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ATPase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATPase inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables enzyme inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in acrosome assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood circulation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cardiac muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle cell cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of ATP-dependent activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of ATP-dependent activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of ATPase-coupled calcium transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of ATPase-coupled calcium transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of calcium ion import ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of calcium ion import into sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of calcium ion import into sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of calcium ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of calcium ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of catalytic activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of heart rate IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of ATPase-coupled calcium transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cardiac muscle cell contraction IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of cardiac muscle cell membrane potential IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cytosolic calcium ion concentration IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of heart contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of relaxation of cardiac muscle IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of the force of heart contraction IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of the force of heart contraction by cardiac conduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in relaxation of cardiac muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of calcium ion-transporting ATPase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_002667.5NP_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, Z99496
      Consensus CDS
      CCDS5120.1
      UniProtKB/Swiss-Prot
      P26678
      UniProtKB/TrEMBL
      Q5R352
      Related
      ENSP00000350132.5, ENST00000357525.6
      Conserved Domains (1) summary
      TIGR01294
      Location:152
      P_lamban; phospholamban

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      118548296..118561716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      119733450..119746868
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)