PPP1R3A protein phosphatase 1 regulatory subunit 3A [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP1R3Aprovided by HGNC
Official Full Name: protein phosphatase 1 regulatory subunit 3Aprovided by HGNC
Primary source: HGNC:HGNC:9291
See related: Ensembl:ENSG00000154415 MIM:600917; AllianceGenome:HGNC:9291
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GM; PP1G; PPP1R3
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, Jul 2008]
Expression: Restricted expression toward heart (RPKM 17.3) See more
Orthologs: mouse all
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Genomic context

Location:: 7q31.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (113876777..113919009, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (115191582..115233899, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (113516832..113559064, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Decreased PPP1R3G in pre-eclampsia impairs human trophoblast invasion and migration via Akt/MMP-9 signaling pathway.
Title: Decreased PPP1R3G in pre-eclampsia impairs human trophoblast invasion and migration via Akt/MMP-9 signaling pathway.
Genome-wide genotyping study and gene expression measurements of healthy and failing human hearts revealed important regulators and cardiac expression quantitative trait loci. PPP1R3A emerges as a regulator whose network connectivity changes significantly between health and disease. RNA sequencing after PPP1R3A knockdown validates network-based predictions and establish PPP1R3A as a central regulator in heart failure.
Title: Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.
Variant in PPP1R3A is associated with type 2 diabetes.
Title: Whole-exome sequencing in maya indigenous families: variant in PPP1R3A is associated with type 2 diabetes.
In the univariate analyses, TP53, PPP1R3A, and KMT2B were significantly more frequently mutated in interval cancers than in screen-detected cancers.
Title: Molecular Differences between Screen-Detected and Interval Breast Cancers Are Largely Explained by PAM50 Subtypes.
results demonstrate that hScrib acts as a scaffold to integrate the control of the PP1gamma and ERK signaling pathways and explains how disruption of hScrib localisation can contribute towards the development of human malignancy
Title: A novel interaction between hScrib and PP1γ downregulates ERK signaling and suppresses oncogene-induced cell transformation.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of a polymorphism of the apolipoprotein E gene with chronic kidney disease in Japanese individuals with metabolic syndrome.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Genetic variability in the insulin signalling pathway may contribute to the risk of late onset Alzheimer's disease.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Allele frequencies for candidate genes in atherosclerosis and diabetes among Trinidadian neonates.
PPP1R3A C1984DeltaAG (stop codon 668) isthe 1st prevalent mutation that directly impairs glycogen synthesis & decreases glycogen levels in human skeletal muscle. It is present in approximately 1 in 70 UK whites.
Title: A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Type 2 diabetes mellitus MedGen: C0011860 OMIM: 125853 GeneReviews: WFS1 Spectrum Disorder	Compare labs

EBI GWAS Catalog

Description
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G15866 (e-PCR)
- UniSTS:77833

RH91845 (e-PCR)
- UniSTS:92490

GDB:676491 (e-PCR)
- UniSTS:158571

D7S2036E (e-PCR)
- UniSTS:51337

SHGC-12021 (e-PCR)
- UniSTS:21679

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glycogen binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein phosphatase 1 binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in glycogen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of glycogen biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of protein phosphatase type 1 complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein phosphatase 1 regulatory subunit 3A

Names: 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

NP_002702.2

EC 3.1.3.16

XP_005250530.1

EC 3.1.3.16

XP_054214514.1

EC 3.1.3.16

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.