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PLN phospholamban [ Homo sapiens (human) ]

Gene ID: 5350, updated on 13-May-2022

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
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Genomic context

See PLN in Genome Data Viewer
Location:
6q22.31
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (118548296..118561716)
110 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 centrosomal protein 85 like Neighboring gene bromodomain containing 7 pseudogene 3 Neighboring gene VISTA enhancer hs2188 Neighboring gene uncharacterized LOC107986524 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

Homology

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 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 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 ryanodine-sensitive calcium-release channel activity IEA
Inferred from Electronic Annotation
more info
 
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
 
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)

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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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)