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Aliases for PLN Gene

Aliases for PLN Gene

  • Phospholamban 2 3
  • PLB 3 4 6
  • CMD1P 3 6
  • CMH18 3 6
  • Cardiac Phospholamban 3

External Ids for PLN Gene

Previous Symbols for PLN Gene

  • PLB

Summaries for PLN Gene

Entrez Gene Summary for PLN Gene

  • 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]

GeneCards Summary for PLN Gene

PLN (Phospholamban) is a Protein Coding gene. Diseases associated with PLN include congestive heart failure and cardiomyopathy, dilated, 1p. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include identical protein binding and ATPase binding.

UniProtKB/Swiss-Prot for PLN Gene

  • Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation.

Gene Wiki entry for PLN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLN Gene

Genomics for PLN Gene

Genomic Location for PLN Gene

Start:
118,548,279 bp from pter
End:
118,560,730 bp from pter
Size:
12,452 bases
Orientation:
Plus strand

Genomic View for PLN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLN Gene

Regulatory Elements for PLN Gene

Proteins for PLN Gene

  • Protein details for PLN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26678-PPLA_HUMAN
    Recommended name:
    Cardiac phospholamban
    Protein Accession:
    P26678
    Secondary Accessions:

    Protein attributes for PLN Gene

    Size:
    52 amino acids
    Molecular mass:
    6109 Da
    Quaternary structure:
    • Homopentamer. Interacts with HAX1 and ATP2A2.
    Miscellaneous:
    • For practical reasons, PLN activity is most often studied with ATP2A1 instead of ATP2A2

    Three dimensional structures from OCA and Proteopedia for PLN Gene

neXtProt entry for PLN Gene

Proteomics data for PLN Gene at MOPED

Post-translational modifications for PLN Gene

  • Phosphorylation by PKA abolishes the inhibition of ATP2A2-mediated calcium uptake. Phosphorylated at Thr-17 by CaMK2, and in response to beta-adrenergic stimulation. Phosphorylation by DMPK may stimulate sarcoplasmic reticulum calcium uptake in cardiomyocytes.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PLN Gene

Domains for PLN Gene

Protein Domains for PLN Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

PPLA_HUMAN
Family:
  • Belongs to the phospholamban family.:
    • P26678
genes like me logo Genes that share domains with PLN: view

No data available for Gene Families for PLN Gene

Function for PLN Gene

Molecular function for PLN Gene

GENATLAS Biochemistry: phospholamban,6.1kDa,mainly expressed in cardiac muscle,also expressed in smooth muscle,phosphoregulated by cAMP-dependent and other protein kinases,regulating the activity of the sarcoplasmic Ca++ ATPase (ATP2A2) isoform a,regulator of the kinetics of cardiac contraction (diastolic function)
UniProtKB/Swiss-Prot Function: Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation.

Gene Ontology (GO) - Molecular Function for PLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004857 enzyme inhibitor activity ISS 12032137
GO:0005246 calcium channel regulator activity IEA --
GO:0005515 protein binding IPI 15598648
GO:0042030 ATPase inhibitor activity ISS --
GO:0042802 identical protein binding ISS --
genes like me logo Genes that share ontologies with PLN: view
genes like me logo Genes that share phenotypes with PLN: view

Animal Models for PLN Gene

MGI Knock Outs for PLN:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for PLN Gene

Localization for PLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLN Gene

Sarcoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLN Gene COMPARTMENTS Subcellular localization image for PLN gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 4
cytoskeleton 2
extracellular 2
plasma membrane 2
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20833797
GO:0005783 endoplasmic reticulum ISS --
GO:0016020 membrane IDA 19708671
GO:0016529 sarcoplasmic reticulum --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with PLN: view

Pathways for PLN Gene

genes like me logo Genes that share pathways with PLN: view

Gene Ontology (GO) - Biological Process for PLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002026 regulation of the force of heart contraction IC 19708671
GO:0006816 calcium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis --
GO:0008015 blood circulation NAS 8406504
GO:0008016 regulation of heart contraction IMP 16432188
genes like me logo Genes that share ontologies with PLN: view

Compounds for PLN Gene

(1) HMDB Compounds for PLN Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(2) Novoseek inferred chemical compound relationships for PLN Gene

Compound -log(P) Hits PubMed IDs
calcium 36 11
lipid 0 4
genes like me logo Genes that share compounds with PLN: view

Transcripts for PLN Gene

mRNA/cDNA for PLN Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(341) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PLN Gene

Phospholamban:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PLN Gene

No ASD Table

Relevant External Links for PLN Gene

GeneLoc Exon Structure for
PLN
ECgene alternative splicing isoforms for
PLN

Expression for PLN Gene

mRNA expression in normal human tissues for PLN Gene

mRNA differential expression in normal tissues according to GTEx for PLN Gene

This gene is overexpressed in Heart - Left Ventricle (17.5), Heart - Atrial Appendage (7.3), Artery - Tibial (5.2), and Artery - Aorta (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PLN Gene

SOURCE GeneReport for Unigene cluster for PLN Gene Hs.170839

mRNA Expression by UniProt/SwissProt for PLN Gene

P26678-PPLA_HUMAN
Tissue specificity: Heart muscle (at protein level).
genes like me logo Genes that share expressions with PLN: view

Orthologs for PLN Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLN 36
  • 99.36 (n)
  • 98.08 (a)
PLN 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLN 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLN 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pln 16
Pln 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLN 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLN 37
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLN 37
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLN 37
  • 85 (a)
OneToOne
Species with no ortholog for PLN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PLN Gene

ENSEMBL:
Gene Tree for PLN (if available)
TreeFam:
Gene Tree for PLN (if available)

Paralogs for PLN Gene

No data available for Paralogs for PLN Gene

Variants for PLN Gene

Sequence variations from dbSNP and Humsavar for PLN Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
VAR_025989 Cardiomyopathy, dilated 1P (CMD1P)

Structural Variations from Database of Genomic Variants (DGV) for PLN Gene

Variant ID Type Subtype PubMed ID
nsv525179 CNV Gain 19592680
esv274179 CNV Insertion 20981092
esv275552 CNV Loss 21479260

Relevant External Links for PLN Gene

HapMap Linkage Disequilibrium report
PLN
Human Gene Mutation Database (HGMD)
PLN

Disorders for PLN Gene

(2) OMIM Diseases for PLN Gene (172405)

UniProtKB/Swiss-Prot

PPLA_HUMAN
  • Cardiomyopathy, dilated 1P (CMD1P) [MIM:609909]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:12610310, ECO:0000269 PubMed:16432188, ECO:0000269 PubMed:22137083}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic 18 (CMH18) [MIM:613874]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:12705874}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PLN Gene

(4) Novoseek inferred disease relationships for PLN Gene

Disease -log(P) Hits PubMed IDs
dilated cardiomyopathy 60.9 5
heart failure 54.3 4
hypertrophy 27 1
cardiomyopathy 22.8 2

Relevant External Links for PLN

GeneTests
PLN
GeneReviews
PLN
Genetic Association Database (GAD)
PLN
Human Genome Epidemiology (HuGE) Navigator
PLN
genes like me logo Genes that share disorders with PLN: view

Publications for PLN Gene

  1. [Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area]. (PMID: 16235537) Chen X.Y. … Wang B. (Sichuan Da Xue Xue Bao Yi Xue Ban 2005) 3 23 49
  2. Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a Northern Greek population. (PMID: 16382369) Kalemi T. … Louridas G. (Biochem. Genet. 2005) 3 23 49
  3. [Association between mutation of phospholamban gene and dilated cardiomyopathy]. (PMID: 15640069) Zhao C.X. … Wang D.W. (Yi Chuan 2004) 3 23 49
  4. Structure of the rabbit phospholamban gene, cloning of the human cDNA, and assignment of the gene to human chromosome 6. (PMID: 1828805) Fujii J. … Maclennan D.H. (J. Biol. Chem. 1991) 2 3 4
  5. Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. (PMID: 12705874) Minamisawa S. … Matsuoka R. (Biochem. Biophys. Res. Commun. 2003) 3 4 49

Products for PLN Gene

Sources for PLN Gene

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