MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP002329

UniProt Annotations

Entry Information
Gene Namephospholamban
Protein EntryPPLA_HUMAN
UniProt IDP26678
SpeciesHuman
Comments
Comment typeDescription
DiseaseCardiomyopathy, 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCardiomyopathy, 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.
FunctionReversibly 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. {ECO:0000269|PubMed:22427649, ECO:0000269|PubMed:22707725}.
InteractionQ09013:DMPK; NbExp=4; IntAct=EBI-692836, EBI-692774;
MiscellaneousFor practical reasons, PLN activity is most often studied with ATP2A1 instead of ATP2A2.
PtmPhosphorylation 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. {ECO:0000269|PubMed:15598648, ECO:0000269|PubMed:16690701, ECO:0000269|PubMed:22707725}.
SimilarityBelongs to the phospholamban family. {ECO:0000305}.
Subcellular LocationSarcoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane {ECO:0000250}; Single- pass membrane protein {ECO:0000250}. Endoplasmic reticulum membrane; Single-pass membrane protein.
SubunitHomopentamer. Interacts with HAX1 and ATP2A2. {ECO:0000269|PubMed:16043693, ECO:0000269|PubMed:16897780, ECO:0000269|PubMed:17241641}.
Tissue SpecificityHeart muscle (at protein level). {ECO:0000269|PubMed:17241641}.
  logo