ENSG00000198523


Homo sapiens

Features
Gene ID: ENSG00000198523
  
Biological name :PLN
  
Synonyms : P26678 / phospholamban / PLN
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q22.31
Gene start: 118548298
Gene end: 118560730
  
Corresponding Affymetrix probe sets: 204938_s_at (Human Genome U133 Plus 2.0 Array)   204939_s_at (Human Genome U133 Plus 2.0 Array)   204940_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000350132
NCBI entrez gene - 5350     See in Manteia.
OMIM - 172405
RefSeq - NM_002667
RefSeq Peptide - NP_002658
swissprot - P26678
swissprot - Q5R352
Ensembl - ENSG00000198523
  
Related genetic diseases (OMIM): 609909 - Cardiomyopathy, dilated, 1P, 609909
  613874 - Cardiomyopathy, hypertrophic, 18, 613874
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 si:ch211-270g19.5ENSDARG00000097256Danio rerio
 PLNENSGALG00000027583Gallus gallus
 PlnENSMUSG00000038583Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR005984  Phospholamban


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002026 regulation of the force of heart contraction IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0007219 Notch signaling pathway IEA
 biological_processGO:0008015 blood circulation NAS
 biological_processGO:0008016 regulation of heart contraction IEA
 biological_processGO:0010043 response to zinc ion IEA
 biological_processGO:0010459 negative regulation of heart rate IMP
 biological_processGO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IEA
 biological_processGO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IEA
 biological_processGO:0032780 negative regulation of ATPase activity ISS
 biological_processGO:0032868 response to insulin IEA
 biological_processGO:0033574 response to testosterone IEA
 biological_processGO:0043086 negative regulation of catalytic activity ISS
 biological_processGO:0045822 negative regulation of heart contraction IEA
 biological_processGO:0048738 cardiac muscle tissue development IEA
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0051480 regulation of cytosolic calcium ion concentration IC
 biological_processGO:0051924 regulation of calcium ion transport ISS
 biological_processGO:0051926 negative regulation of calcium ion transport IDA
 biological_processGO:0055119 relaxation of cardiac muscle TAS
 biological_processGO:0060314 regulation of ryanodine-sensitive calcium-release channel activity IEA
 biological_processGO:0086004 regulation of cardiac muscle cell contraction IC
 biological_processGO:0086023 adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process IEA
 biological_processGO:0086036 regulation of cardiac muscle cell membrane potential IC
 biological_processGO:0086092 regulation of the force of heart contraction by cardiac conduction IEA
 biological_processGO:0090279 regulation of calcium ion import IEA
 biological_processGO:0090281 negative regulation of calcium ion import ISS
 biological_processGO:1901020 negative regulation of calcium ion transmembrane transporter activity ISS
 biological_processGO:1901077 regulation of relaxation of muscle IEA
 biological_processGO:1901877 negative regulation of calcium ion binding ISS
 biological_processGO:1901894 regulation of calcium-transporting ATPase activity IDA
 biological_processGO:1901895 negative regulation of calcium-transporting ATPase activity IDA
 biological_processGO:1901897 regulation of relaxation of cardiac muscle IC
 biological_processGO:1902081 negative regulation of calcium ion import into sarcoplasmic reticulum ISS
 biological_processGO:1903779 regulation of cardiac conduction TAS
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISS
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 cellular_componentGO:0031966 mitochondrial membrane IEA
 cellular_componentGO:0031982 vesicle IEA
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane TAS
 cellular_componentGO:0048471 perinuclear region of cytoplasm ISS
 cellular_componentGO:0090534 calcium ion-transporting ATPase complex IDA
 molecular_functionGO:0004857 enzyme inhibitor activity ISS
 molecular_functionGO:0005246 calcium channel regulator activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042030 ATPase inhibitor activity ISS
 molecular_functionGO:0042802 identical protein binding ISS
 molecular_functionGO:0051117 ATPase binding ISS


Pathways (from Reactome)
Pathway description
Ion homeostasis
Ion transport by P-type ATPases


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000982 Palmoplantar keratoderma 
Show

 HP:0001638 Cardiomyopathy 
Show

 HP:0001644 Dilated cardiomyopathy 
Show

 HP:0001712 Left ventricular hypertrophy 
Show

 HP:0001874 Abnormality of neutrophil 
Show

 HP:0003198 Myopathy 
Show

 HP:0003236 Elevated serum creatine phosphokinase 
Show

 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
Show

 HP:0004308 Ventricular arrhythmia 
Show

 HP:0005110 Atrial fibrillation 
Show

 HP:0006673 Reduced systolic function 
Show

 HP:0100578 Lipoatrophy "Localized loss of fat tissue." [HPO:sdoelken]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000072062 P17612 / PRKACA / protein kinase cAMP-activated catalytic subunit alpha  / reaction
 ENSG00000104936 DMPK / Q09013 / DM1 protein kinase  / reaction
 ENSG00000198523 PLN / P26678 / phospholamban  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr