Genomes and Genes
Gene Symbol: PPP1R3A
Description: protein phosphatase 1 regulatory subunit 3A
Alias: PP1G, PPP1R3, protein phosphatase 1 regulatory subunit 3A, RG1, glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle, glycogen-associated regulatory subunit of protein phosphatase-1, protein phosphatase 1 glycogen- associated regulatory subunit, protein phosphatase 1 regulatory subunit GM, protein phosphatase 1, regulatory (inhibitor) subunit 3A, protein phosphatase type-1 glycogen targeting subunit, serine /threonine specific protein phosphatase, type-1 protein phosphatase skeletal muscle glycogen targeting subunit
- Ma L, Bayram Y, McLaughlin H, Cho M, Krokosky A, Turner C, et al. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet. 2016;135:1399-1409 pubmed..Our data suggest that our heterozygous de novo PPP1CB pathogenic variants are associated with syndromic intellectual disability. ..
- Sokhi J, Sikka R, Raina P, Kaur R, Matharoo K, Arora P, et al. Association of genetic variants in INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) with type 2 diabetes (T2D): a case-control study in three ethnic groups from North-West India. Mol Genet Genomics. 2016;291:205-16 pubmed publisher..were selected on the basis of information available in the literature for INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) in context to T2D. The genotyping was done using PCR-RFLP method...
- Hubbard M, Cohen P. Regulation of protein phosphatase-1G from rabbit skeletal muscle. 1. Phosphorylation by cAMP-dependent protein kinase at site 2 releases catalytic subunit from the glycogen-bound holoenzyme. Eur J Biochem. 1989;186:701-9 pubmed
- Walker K, Watt P, Cohen P. Phosphorylation of the skeletal muscle glycogen-targetting subunit of protein phosphatase 1 in response to adrenaline in vivo. FEBS Lett. 2000;466:121-4 pubmed..Thus the phosphorylation of G(M) at Ser48 by MAPKAP-K1 or other insulin-stimulated protein kinases is not involved in the activation of glycogen synthase by insulin. ..
- Chen M, Yang M, Wang C, Wang Y, Xu X, Liu S, et al. [Study on the association of PPP1R3 gene polymorphism with type 2 diabetes in Han population of Anhui province]. Zhonghua Liu Xing Bing Xue Za Zhi. 2004;25:534-6 pubmed..association of muscle-specific glycogen-targeting regulatory subunit of the glucogen-bound protein phosphatase 1 (PPP1R3) gene codon 905 Asp/Tyr polymorphism with type 2 diabetes in Chinese Han population in Hefei region of Anhui ..
- Wang G, Qian R, Li Q, Niu T, Chen C, Xu X. The association between PPP1R3 gene polymorphisms and type 2 diabetes mellitus. Chin Med J (Engl). 2001;114:1258-62 pubmed..of the glycogen-targeting regulatory subunit of the skeletal muscle glycogen-associated protein phosphatase 1 (PPP1R3) gene and type 2 diabetes by case-control study...
- Hayashida Y, Goi T, Hirono Y, Katayama K, Urano T, Yamaguchi A. PPP1R3 gene (protein phosphatase 1) alterations in colorectal cancer and its relationship to metastasis. Oncol Rep. 2005;13:1223-7 pubmedThe PPP1R3 gene is located on chromosome 7q31, and encodes protein phosphatase 1 (regulatory 3). It has been reported that the inactivation of various phosphatase proteins causes abnormalities in cell division and cell growth systems...
- Winter S, Bosnoyan Collins L, Pinnaduwage D, Andrulis I. The interaction of PP1 with BRCA1 and analysis of their expression in breast tumors. BMC Cancer. 2007;7:85 pubmed..Alterations in the expression of genes, particularly phosphatases that operate in association with BRCA1, could negatively affect the function of BRCA1 or BRCA1 associated proteins, contributing to the development of breast cancer. ..
- Alcoser S, Hara M, Bell G, Ehrmann D. Association of the (AU)AT-rich element polymorphism in PPP1R3 with hormonal and metabolic features of polycystic ovary syndrome. J Clin Endocrinol Metab. 2004;89:2973-6 pubmed..region of the gene encoding the muscle-specific glycogen-targeting subunit of protein phosphatase 1 (PPP1R3) has been associated with insulin resistance and type 2 diabetes...
- Liolitsa D, Powell J, Lovestone S. Genetic variability in the insulin signalling pathway may contribute to the risk of late onset Alzheimer's disease. J Neurol Neurosurg Psychiatry. 2002;73:261-6 pubmed..p85alpha subunit of phosphatidyl inositol 3 kinase (PIK3R1) and the regulatory subunit 3 of protein phosphatase 1 (PPP1R3) were selected as candidate genes because both encode key proteins involved in insulin signalling and because ..
- Pollex R, Hanley A, Zinman B, Harris S, Hegele R. Clinical and genetic associations with hypertriglyceridemic waist in a Canadian aboriginal population. Int J Obes (Lond). 2006;30:484-91 pubmed..insertion/deletion polymorphism within the 3'-untranslated region of protein phosphatase 1 regulatory subunit 3 (PPP1R3). The unadjusted prevalence of HTGW in Oji-Cree adults was 20.5%, with more males affected than females (27...
- Savage D, Zhai L, Ravikumar B, Choi C, Snaar J, McGuire A, et al. A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice. PLoS Med. 2008;5:e27 pubmed publisher..We previously reported that a frameshift/premature stop mutation in PPP1R3A, the gene encoding RGL, a key regulator of muscle glycogen metabolism, was present in 1...
- Chen M, Yang M, Wang C, Xu X, Wang Y, Liu S, et al. [Study on association of PPP1R3 gene 5 bp deletion/insertion within 3'-untranslated region polymorphism with type 2 diabetes]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004;21:29-31 pubmed..whether the muscle-specific glycogen-targeting regulatory subunit of the glucogen bound protein phosphatase 1 (PPP1R3) gene 5 bp deletion/insertion(D/I) within 3'-untranslated region ( 3'-UTR) polymorphism is associated with type 2 ..
- Chen Y, Hansen L, Chen M, Bjørbaek C, Vestergaard H, Hansen T, et al. Sequence of the human glycogen-associated regulatory subunit of type 1 protein phosphatase and analysis of its coding region and mRNA level in muscle from patients with NIDDM. Diabetes. 1994;43:1234-41 pubmed..we have now cloned the human G-subunit cDNA to search for abnormalities in the corresponding gene (designated PPP1R3 in the human genome nomenclature) in patients with NIDDM...
- Xia J, Scherer S, Cohen P, Majer M, Xi T, Norman R, et al. A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes. Diabetes. 1998;47:1519-24 pubmed..and common variant of an "ATTTA" element in the 3'-untranslated region (UTR) of the corresponding gene (PPP1R3)...
- Li J, Ivansson E, Klevebring D, Tobin N, LindstrÃ¶m L, Holm J, et al. Molecular Differences between Screen-Detected and Interval Breast Cancers Are Largely Explained by PAM50 Subtypes. Clin Cancer Res. 2017;23:2584-2592 pubmed publisher..b>Results: In the univariate analyses, TP53, PPP1R3A, and KMT2B were significantly more frequently mutated in interval cancers than in screen-detected ..
- Hegele R, Ban M, Carrington C, Ramdath D. Allele frequencies for candidate genes in atherosclerosis and diabetes among Trinidadian neonates. Hum Biol. 2001;73:525-31 pubmed..subpopulations in the allele frequencies of several candidate genes, including APOE, LIPC, APOC3, PON1, PON2, and PPP1R3. However, the differences in the allele frequencies were not all consistent with the pattern of CHD expression ..
- Berrebi Bertrand I, Souchet M, Camelin J, Laville M, Calmels T, Bril A. Biophysical interaction between phospholamban and protein phosphatase 1 regulatory subunit GM. FEBS Lett. 1998;439:224-30 pubmed..Thus, the interaction between PLB and GM may represent a specific way to modulate the SR function in human cardiac muscle. ..