Pln phospholamban [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Plnprovided by MGI
Official Full Name: phospholambanprovided by MGI
Primary source: MGI:MGI:97622
See related: Ensembl:ENSMUSG00000038583 AllianceGenome:MGI:97622
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Plb
Summary: Enables protein homodimerization activity. Involved in negative regulation of calcium ion import into sarcoplasmic reticulum. Acts upstream of or within several processes, including negative regulation of calcium ion binding activity; regulation of calcium ion transport; and regulation of heart contraction. Located in sarcoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; ear; heart; nervous system; and skeleton. Used to study centronuclear myopathy and dilated cardiomyopathy 1P. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1P and hypertrophic cardiomyopathy 18. Orthologous to human PLN (phospholamban). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward heart adult (RPKM 1215.6) See more
Orthologs: human all
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Genomic context

Location:: 10 B3; 10 27.11 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (53213782..53222095)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (53337686..53345999)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Myofilament Alterations Associated with Human R14del-Phospholamban Cardiomyopathy.
Title: Myofilament Alterations Associated with Human R14del-Phospholamban Cardiomyopathy.
14-3-3 binding creates a memory of kinase action by stabilizing the modified state of phospholamban.
Title: 14-3-3 binding creates a memory of kinase action by stabilizing the modified state of phospholamban.
Phospholamban antisense oligonucleotides improve cardiac function in murine cardiomyopathy.
Title: Phospholamban antisense oligonucleotides improve cardiac function in murine cardiomyopathy.
Phosphoproteomic analysis identifies phospho-Threonine-17 site of phospholamban important in low molecular weight isoform of fibroblast growth factor 2-induced protection against post-ischemic cardiac dysfunction.
Title: Phosphoproteomic analysis identifies phospho-Threonine-17 site of phospholamban important in low molecular weight isoform of fibroblast growth factor 2-induced protection against post-ischemic cardiac dysfunction.
The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy.
Title: The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy.
HuR regulates phospholamban expression in isoproterenol-induced cardiac remodelling.
Title: HuR regulates phospholamban expression in isoproterenol-induced cardiac remodelling.
the sarco/endoplasmic reticulum Ca(2+)-ATPase (SERCA2)-regulating protein phospholamban (PLN) is identified as a physiological SPPL2c substrate.
Title: The intramembrane protease SPPL2c promotes male germ cell development by cleaving phospholamban.
Ablation of phospholamban rescues reperfusion arrhythmias but exacerbates myocardium infarction in hearts with Ca2+/calmodulin kinase II constitutive phosphorylation of ryanodine receptors.
Title: Ablation of phospholamban rescues reperfusion arrhythmias but exacerbates myocardium infarction in hearts with Ca2+/calmodulin kinase II constitutive phosphorylation of ryanodine receptors.
SERCA pumping efficiency (measured as an apparent coupling ratio: Ca(2+) uptake/ATP hydrolysis) was unaffected by PLN deficiency in skeletal muscle. Study lends support to the notion that PLN serves a functionally distinct role from that of sarcolipin in skeletal muscle physiology.
Title: Phospholamban deficiency does not alter skeletal muscle SERCA pumping efficiency or predispose mice to diet-induced obesity.
Cardioprotection by PKN1 is associated with reduced CamKIIdelta-dependent phospholamban Thr17 phosphorylation at the SR and therefore may stabilize the coupling of SR Ca2+ handling and contractile function, independent of its kinase activity.
Title: Loss of Protein Kinase Novel 1 (PKN1) is associated with mild systolic and diastolic contractile dysfunction, increased phospholamban Thr17 phosphorylation, and exacerbated ischaemia-reperfusion injury.

Submit: New GeneRIF Correction See all GeneRIFs (53)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables ATPase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in acrosome assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cardiac muscle tissue development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within intracellular calcium ion homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within muscle cell cellular homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of ATP-dependent activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ATPase-coupled calcium transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of ATPase-coupled calcium transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ATPase-coupled calcium transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ATPase-coupled calcium transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of calcium ion binding	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of calcium ion import into sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of calcium ion import into sarcoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of calcium ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of calcium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of heart contraction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of heart rate	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of heart rate	ISO Inferred from Sequence Orthology more info
involved_in regulation of ATPase-coupled calcium transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of calcium ion import	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of calcium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of cardiac muscle cell contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of relaxation of muscle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of ryanodine-sensitive calcium-release channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of the force of heart contraction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of the force of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of the force of heart contraction by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to testosterone	ISO Inferred from Sequence Orthology more info
involved_in response to zinc ion	ISO Inferred from Sequence Orthology more info
involved_in spermatogenesis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of calcium ion-transporting ATPase complex	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
is_active_in sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cardiac phospholamban

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.

mRNA and Protein(s)

NM_001141927.1 → NP_001135399.1 cardiac phospholamban

See identical proteins and their annotated locations for NP_001135399.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK002622, BB658675, BM123812, CA459471

Consensus CDS

CCDS35899.1

UniProtKB/Swiss-Prot

P61014, Q3UQ75

Related

ENSMUSP00000151641.2, ENSMUST00000219491.2

Conserved Domains (1) summary

TIGR01294
Location:1 → 52

P_lamban; phospholamban
NM_023129.5 → NP_075618.1 cardiac phospholamban

See identical proteins and their annotated locations for NP_075618.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK002622, BB658675, BM123812

Consensus CDS

CCDS35899.1

UniProtKB/Swiss-Prot

P61014, Q3UQ75

Related

ENSMUSP00000045709.7, ENSMUST00000046221.8

Conserved Domains (1) summary

TIGR01294
Location:1 → 52

P_lamban; phospholamban