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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
Physical map
NRCAM 7q31.1-q31.2 neuronal cell adhesion molecule IPLA2(GAMMA) 7q31 intracellular membrane-associated calcium-independent phospholipase A2 gamma THAP5 7q22.3 THAP domain containing 5 DNAJB9 14q24.2-q24.3 DnaJ (Hsp40) homolog, subfamily B, member 9 LOC154907 7q22.3 hypothetical LOC154907 LOC392090 7 similar to TGF-beta receptor binding protein LOC392091 7 similar to ribosomal protein L3; 60S ribosomal protein L3; HIV-1 TAR RNA-binding protein B IMMP2L 7q31 IMP2 inner mitochondrial membrane protease-like (S. cerevisiae) LRRN3 7q21.12 leucine rich repeat neuronal 3 LOC392092 7 similar to Argininosuccinate synthase (Citrulline--aspartate ligase) DOCK4 7q21.13-q31.1 similar to Argininosuccinate synthase (Citrulline--aspartate ligase) ZNF277 7q31.1 zinc finger protein (C2H2 type) 277 IFRD1 7q31 interferon-related developmental regulator 1 FLJ39575 7q31.1 hypothetical protein FLJ39575 NPM1P14 7q31.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 14 FLJ13576 7q31.32 hypothetical protein FLJ13576 FLJ31818 7q31.1 hypothetical protein FLJ31818 GPR85 7q31 G protein-coupled receptor 85 LOC389548 7 hypothetical gene supported by BX537645 PPP1R3A 7q11.23 protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle) FOXP2 7q31 forkhead box P2 HIC 7q31.1 forkhead box P2 TFEC 7q31.2 transcription factor EC TES 7q31.2 testis derived transcript (3 LIM domains) CAV2 7q31.1-q31.2 caveolin 2 CAV1 7q31.2-q31.3 caveolin 1, caveolae protein, 22kDa MET 7q31.2-q31.3 met proto-oncogene (hepatocyte growth factor receptor) CAPZA2 7q31.2-q31.3 capping protein (actin filament) muscle Z-line, alpha 2 ST7 7q31.1-q31.3 suppression of tumorigenicity 7 WNT2 7q31 wingless-type MMTV integration site family member 2 GASZ 7q31.31 GASZ CFTR 7q31.3 cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) CORTBP2 7q31.3 cortactin binding protein 2 LSM8 7q31.1-q31.3 LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae) ANKRD7 7q31 ankyrin repeat domain 7
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