PPP1R3A

Protein-coding gene in the species Homo sapiens
PPP1R3A
Identifiers
AliasesPPP1R3A, GM, PP1G, PPP1R3, protein phosphatase 1 regulatory subunit 3A
External IDsOMIM: 600917; MGI: 2153588; HomoloGene: 48124; GeneCards: PPP1R3A; OMA:PPP1R3A - orthologs
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for PPP1R3A
Genomic location for PPP1R3A
Band7q31.1Start113,876,777 bp[1]
End114,075,920 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for PPP1R3A
Genomic location for PPP1R3A
Band6|6 A1Start14,713,976 bp[2]
End14,755,273 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Skeletal muscle tissue of rectus abdominis

  • muscle of thigh

  • Skeletal muscle tissue of biceps brachii

  • body of tongue

  • gastrocnemius muscle

  • vastus lateralis muscle

  • left ventricle

  • apex of heart

  • right auricle

  • testicle
Top expressed in
  • interventricular septum

  • muscle of thigh

  • right ventricle

  • skeletal muscle tissue

  • esophagus

  • lip

  • stomach

  • quadriceps femoris muscle

  • tibiofemoral joint

  • carotid body
More reference expression data
BioGPS


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

5506

140491

Ensembl

ENSG00000154415

ENSMUSG00000042717

UniProt

Q16821

Q99MR9

RefSeq (mRNA)

NM_002711

NM_080464

RefSeq (protein)

NP_002702

NP_536712

Location (UCSC)Chr 7: 113.88 – 114.08 MbChr 6: 14.71 – 14.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein phosphatase 1 regulatory subunit 3A is an enzyme that in humans is encoded by the PPP1R3A gene.[5][6]

The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit (MIM 176875) and a 124-kD targeting and regulatory subunit, referred to as PP1G by Hansen et al. (1995).

PP1G binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase (e.g., MIM 138570) and glycogen phosphorylase kinase (e.g., MIM 306000). Phosphorylation at ser46 of the PP1G subunit in response to insulin increases PP1 activity, while phosphorylation at ser65 in response to adrenaline causes dissociation of the catalytic subunit from the G subunit and inhibits glycogen synthesis.

Because of these functions, PP1G was postulated to be involved in noninsulin-dependent diabetes mellitus (NIDDM; MIM 125853) and obesity.[supplied by OMIM][6] }}

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000154415 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042717 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Chen YH, Hansen L, Chen MX, Bjorbaek C, Vestergaard H, Hansen T, Cohen PT, Pedersen O (Nov 1994). "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. 43 (10): 1234–41. doi:10.2337/diabetes.43.10.1234. PMID 7926294.
  6. ^ a b "Entrez Gene: PPP1R3A protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)".

Further reading

  • Hubbard MJ, Cohen P (1990). "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. 186 (3): 701–9. doi:10.1111/j.1432-1033.1989.tb15263.x. PMID 2558013.
  • Hansen L, Hansen T, Vestergaard H, et al. (1995). "A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin". Hum. Mol. Genet. 4 (8): 1313–20. doi:10.1093/hmg/4.8.1313. PMID 7581368.
  • Xia J, Scherer SW, Cohen PT, et al. (1998). "A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes". Diabetes. 47 (9): 1519–24. doi:10.2337/diabetes.47.9.1519. PMID 9726244.
  • Berrebi-Bertrand I, Souchet M, Camelin JC, et al. (1998). "Biophysical interaction between phospholamban and protein phosphatase 1 regulatory subunit GM". FEBS Lett. 439 (3): 224–30. doi:10.1016/S0014-5793(98)01364-7. PMID 9845327. S2CID 23589684.
  • Walker KS, Watt PW, Cohen P (2000). "Phosphorylation of the skeletal muscle glycogen-targeting subunit of protein phosphatase 1 in response to adrenaline in vivo". FEBS Lett. 466 (1): 121–4. doi:10.1016/S0014-5793(99)01771-8. PMID 10648825. S2CID 7092958.
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
  • Wang G, Qian R, Li Q, et al. (2002). "The association between PPP1R3 gene polymorphisms and type 2 diabetes mellitus". Chin. Med. J. 114 (12): 1258–62. PMID 11793847.
  • Savage DB, Agostini M, Barroso I, et al. (2002). "Digenic inheritance of severe insulin resistance in a human pedigree". Nat. Genet. 31 (4): 379–84. doi:10.1038/ng926. PMID 12118251. S2CID 36670757.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
  • Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. Bibcode:2003Natur.424..157H. doi:10.1038/nature01782. PMID 12853948.
  • Lerín C, Montell E, Nolasco T, et al. (2003). "Regulation and function of the muscle glycogen-targeting subunit of protein phosphatase 1 (GM) in human muscle cells depends on the COOH-terminal region and glycogen content". Diabetes. 52 (9): 2221–6. doi:10.2337/diabetes.52.9.2221. PMID 12941760.
  • Alcoser SY, Hara M, Bell GI, Ehrmann DA (2004). "Association of the (AU)AT-rich element polymorphism in PPP1R3 with hormonal and metabolic features of polycystic ovary syndrome". J. Clin. Endocrinol. Metab. 89 (6): 2973–6. doi:10.1210/jc.2003-031189. PMID 15181086.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Hayashida Y, Goi T, Hirono Y, et al. (2005). "PPP1R3 gene (protein phosphatase 1) alterations in colorectal cancer and its relationship to metastasis". Oncol. Rep. 13 (6): 1223–7. doi:10.3892/or.13.6.1223. PMID 15870946.
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.


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