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FLASH GENE
Symbol PLN contributors: mct/npt - updated : 02-06-2009
HGNC name phospholamban
HGNC id 9080
Corresponding disease
CMD1P cardiomyopathy dilated or hypertrophic, 1P
Location 6q22.31      Physical location : 118.869.441 - 118.881.586
Synonym name cardiac phospholamban
Synonym symbol(s) PLB
DNA
TYPE functioning gene
STRUCTURE 12.12 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
RWDD1 6q13-q22.33 RWD domain containing 1 RSHL3 6q22.31 radial spokehead-like 3 C6orf113 6q22.31 chromosome 6 open reading frame 113 KPNA5 6q22.31 karyopherin alpha 5 (importin alpha 6) C6orf189 6q22.31 chromosome 6 open reading frame 189 GPRC6A 6q22.31 G protein-coupled receptor, family C, group 6, member A RFXDC1 6q22.31 regulatory factor X domain containing 1 VGLL2 6q22.31 vestigial like 2 (Drosophila) ROS1 6q21-q22 v-ros UR2 sarcoma virus oncogene homolog 1 (avian) DCBLD1 6q22.31 discoidin, CUB and LCCL domain containing 1 GOPC 6q21 golgi associated PDZ and coiled-coil motif containing LOC221308 6q22.31 similar to RIKEN cDNA 5730521E12 C6orf68 6q22.31 chromosome 6 open reading frame 68 SLC35F1 6q22.31 solute carrier family 35, member F1 LOC391965 6 hypothetical gene supported by BX647084 BP75 6q22.1-q22.33 hypothetical gene supported by BX647084 PLN 6q22.1 phospholamban psiSSX10 6q22 SSX10 pseudogene C6orf61 6q22.31 chromosome 6 open reading frame 61 ASF1A 6q22.32 ASF1 anti-silencing function 1 homolog A (S. cerevisiae) MCMDC1 6q22.31 minichromosome maintenance deficient domain containing 1 C6orf60 6q22.31 chromosome 6 open reading frame 60 MAN1A1 6q22 mannosidase, alpha, class 1A, member 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 1742 5.98 52 - Schmitt (2009)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestivemouth   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmooth   
Muscularstriatumcardiac  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated PhosphoP
mono polymer homomer , pentamer
HOMOLOGY
Homologene
FAMILY
  • phospholamban family
  • CATEGORY motor/contractile , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text highly expressed in the sarcoplasmic reticulum (SR) where it colocalizes with the ryanodine receptor and DMPK
    basic FUNCTION
  • regulating the activity of the sarcoplasmic Ca++ ATPase (ATP2A2) isoform a, regulator of the kinetics of cardiac contraction (diastolic function)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to S100A1, SLN
  • associated with the fast-twitch skeletal muscle sarcoplasmic reticulum Ca++ ATPase (ATP2A1)
  • inhibiting ATP2A2a (a weak inhibitor of ATP2A2, PLN(R9C), which is diminished in its ability to modify the level of ATP2A2a activity, leads to heart failure despite fast sarcoplasmic reticulum Ca(2+) reuptake) (Schmitt 2009)
  • cell & other
    REGULATION
    inhibited by SLN, via inhibition of polymerization of the pentamer
    Other phosphoregulated by cAMP-dependent and other protein kinases
    ASSOCIATED DISORDERS
    corresponding disease(s) CMD1P
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in tetralogy of Fallot (Vittorini 2007)
    constitutional germinal mutation      
    cause of inherited dilated cardiomyopathy with refractory congestive heart failure
    Susceptibility to familial hypertrophic cardiomyopathy
    Variant & Polymorphism truncation mutation in the PLN gene (Leu39Ter) associated to familial hypertrophic cardiomyopathy (Chiu 2007)
    Candidate gene may be responsible for cardiomyopathy
    Marker
    Therapy target
    ANIMAL & CELL MODELS