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FLASH GENE
Symbol PPP1R3A contributors: - updated : 08-12-2004
HGNC name protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)
HGNC id 9291
Corresponding disease
DIDAN insulin dependent diabetes mellitus with acanthosis nigricans
FPLD3 familial partial lipodystrophy, 3, Dunnigan type
PPARG marked obesity
Location 7q11.23      Physical location : 113.516.881 - 113.559.082
Synonym name protein phosphatase 1, glycogen associated
Synonym symbol(s) PPP1R3, PP1G
EC.number 3.1.3.16
DNA
TYPE functioning gene
STRUCTURE 44.00 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- splicing 6800 125.8 1122 - Xia
- splicing 800 8.2 74 - Xia
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac  
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , dimer
HOMOLOGY
interspecies homolog to murine Ppp1r3a
Homologene
FAMILY
CATEGORY enzyme , regulatory
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
text sarcoplasmic reticulum
basic FUNCTION regulating phosphatase activity towards glycogen synthase (glycogen synthesis)
CELLULAR PROCESS
PHYSIOLOGICAL PROCESS
PATHWAY
metabolism carbohydrate
signaling
a component heterodimerizing with a 37kDa catalytic subunit
INTERACTION
DNA
RNA
small molecule other,
protein glycogen synthase
cell & other
REGULATION
activated by phosphorylation at Ser 46 in response to insulin
induced by phosphorylation at Ser 65 in response to adrenaline causing dissociation of the catalytic subunit from the G subunit
ASSOCIATED DISORDERS
corresponding disease(s) PPARG , DIDAN , FPLD3
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS