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PLN phospholamban [ Homo sapiens (human) ]

Gene ID: 5350, updated on 23-Oct-2014
Official Symbol
PLNprovided by HGNC
Official Full Name
phospholambanprovided by HGNC
Primary source
HGNC:HGNC:9080
Locus tag
RP3-509L4.2
See related
Ensembl:ENSG00000198523; HPRD:01395; 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. [provided by RefSeq, Jul 2008]
Location:
6q22.1
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (118548279..118560424)
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 ATP-dependent RNA helicase DDX24-like Neighboring gene centrosomal protein 85kDa-like Neighboring gene bromodomain containing 7 pseudogene 3 Neighboring gene uncharacterized LOC101927940 Neighboring gene SSX family pseudogene 10

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 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...
  • 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...
  • 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...
  • 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

Homology

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
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
 
cytosolic calcium ion homeostasis IC
Inferred by Curator
more info
PubMed 
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
 
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
 
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
 
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
 
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 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
 
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 
mitochondrion IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
vesicle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
cardiac phospholamban
Names
cardiac phospholamban

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 

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

mRNA and Protein(s)

  1. NM_002667.3NP_002658.1  cardiac phospholamban

    See proteins identical to NP_002658.1

    Status: REVIEWED

    Source sequence(s)
    BC005269, BP259965, M63603
    Consensus CDS
    CCDS5120.1
    UniProtKB/Swiss-Prot
    P26678
    UniProtKB/TrEMBL
    Q5R352
    Related
    ENSP00000350132, OTTHUMP00000017092, ENST00000357525, OTTHUMT00000041993
    Conserved Domains (1) summary
    TIGR01294
    Location:152
    P_lamban; phospholamban

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    118548279..118560424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    116451106..116463257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    119133487..119145628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)