PPP1R3A

Gene Information
 
Gene Symbol
PPP1R3A
 
Aliases
GM, PP1G, PPP1R3
 
Entrez Gene ID
 
Gene Name
Protein phosphatase 1, regulatory subunit 3A
 
Chromosomal Location
7q31.1
 
HGNC ID
 
Summary
The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. (provided by RefSeq)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein
Protein Information
 
Protein Name
Protein phosphatase 1 regulatory subunit 3A
 
Function
Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Plays an important role in glycogen synthesis but is not essential for insulin activation of glycogen synthase (By similarity)
 
Refseq Proteins
 
UniProt
 
InterPro
Accessions
IPR005036
 
Pfam
Pfam Accession Pfam ID
PF03370 CBM_21 Putative phosphatase regulatory subunit
 
KEGG
 
OMIM
 
Phenotype MIM ID
 
Interactions
STRING MINT I2D
ENSP00000284601 Q16821

Associated Diseases

Diseases References
Cancer (colorectal cancer) 15870946, 10485448
Insulin resistance 15181086
Niddm 9653600, 15231141, 7926294, 11793847, 14767904
   
References
 
Primary:

Association of the (AU)AT-rich element polymorphism in PPP1R3 with hormonal and metabolic features of polycystic ovary syndrome.

Alcoser Sergio Y, Hara Manami, Bell Graeme I, Ehrmann David A
Department of Biochemistry, The University of Chicago, Chicago, Illinois 60637, USA.
J Clin Endocrinol Metab. 2004 Jun;89(6):2973-6.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
insulin resistance and hyperandrogenemia 
variants in PPP1R3 
NIH criteria 
Related 
186 women with PCOS 
Studies of diabetic and nondiabetic PCOS women of other racial and ethnic backgrounds will be necessary to assess the impact of this and other variants in PPP1R3 upon the phenotype and natural history of women with PCOS. 

 

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