PLN
Phospholamban
Also known as: CMD1P, PLB, PPLA_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P26678
- Gene
- PLN
- Ensembl
- ENSG00000198523
- Chromosome
- 6
- Canonical length
- 52 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Quaternary structure
- Homopentamer
OverviewNCBI 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, and also familial hypertrophic cardiomyopathy. [provided by RefSeq, Apr 2016]
Canonical amino-acid sequenceUniProt
52 residues, UniProt reviewed canonical sequence.
>P26678|PLN
1 MEKVQYLTRS AIRRASTIEM PQQARQKLQN LFINFCLILI CLLLICIIVM LLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PLN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.55
- Highest tissue expression
- 1,463 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 1,463 nTPM
- skeletal muscle: 475 nTPM
- blood vessel: 341 nTPM
- tongue: 215 nTPM
- smooth muscle: 120 nTPM
- colon: 106 nTPM
Single-cell type
- vascular smooth muscle cells: 699 nCPM
- smooth muscle cells: 561 nCPM
- myonuclei: 207 nCPM
- cardiomyocytes: 167 nCPM
- late primary spermatocytes: 119 nCPM
- early spermatids: 103 nCPM
Immune cell
- eosinophil: 0.1 nTPM
- naive CD4 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- basal ganglia: 7 nTPM
- cerebellum: 6.3 nTPM
- cerebral cortex: 5.2 nTPM
- thalamus: 4.9 nTPM
- midbrain: 4.6 nTPM
- pons: 4.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PLN.
Disease | AllUniProt
Conditions PLN is implicated in, by any mechanism.
- Cardiomyopathy, dilated, 1P (CMD1P) MIM:609909
- Cardiomyopathy, familial hypertrophic, 18 (CMH18) MIM:613874
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 156 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Dilated cardiomyopathy 1P
- Hypertrophic cardiomyopathy 18
- Primary dilated cardiomyopathy
- Cardiomyopathy
- Cardiovascular phenotype
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.56
- gnomAD pLI
- 0.45
- gnomAD missense Z
- 0.62
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- acrosome assembly
- blood circulation
- calcium ion transport
- cardiac muscle tissue development
- intracellular calcium ion homeostasis
- locomotor rhythm
- muscle cell cellular homeostasis
- negative regulation of ATPase-coupled calcium transmembrane transporter activity
- negative regulation of calcium ion import
- negative regulation of calcium ion import into sarcoplasmic reticulum
- negative regulation of calcium ion transport
- negative regulation of heart rate
- Notch signaling pathway
- regulation of ATPase-coupled calcium transmembrane transporter activity
- regulation of calcium ion transport
- regulation of cardiac muscle cell contraction
- regulation of cardiac muscle cell membrane potential
- regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
- regulation of cytosolic calcium ion concentration
- regulation of heart contraction
- regulation of relaxation of cardiac muscle
- regulation of the force of heart contraction
- regulation of the force of heart contraction by cardiac conduction
- relaxation of cardiac muscle
- response to insulin
- response to testosterone
- response to zinc ion
- visual learning
- adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process
- circadian sleep/wake cycle, sleep
Molecular functions
- ATPase binding
- ATPase inhibitor activity
- enzyme inhibitor activity
- identical protein binding
- protein homodimerization activity
- transmembrane transporter binding
- transporter inhibitor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Phospholamban
- Phospholamban
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PLN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PLN as an antibody target. Whether an autoantibody or antibody against PLN could matter depends on whether native PLN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PLN is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PLN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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