PPP1R3C protein phosphatase 1 regulatory subunit 3C [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP1R3Cprovided by HGNC
Official Full Name: protein phosphatase 1 regulatory subunit 3Cprovided by HGNC
Primary source: HGNC:HGNC:9293
See related: Ensembl:ENSG00000119938 MIM:602999; AllianceGenome:HGNC:9293
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: PTG; PPP1R5
Summary: This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]
Expression: Broad expression in heart (RPKM 69.5), esophagus (RPKM 32.0) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q23.32

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (91628442..91633071, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (92511668..92516296, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (93388199..93392828, complement)

Chromosome 10 - NC_000010.11 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 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?

AhRR and PPP1R3C: Potential Prognostic Biomarkers for Serous Ovarian Cancer.
Title: AhRR and PPP1R3C: Potential Prognostic Biomarkers for Serous Ovarian Cancer.
MiR-4461 Inhibits Tumorigenesis of Renal Cell Carcinoma by Targeting PPP1R3C.
Title: MiR-4461 Inhibits Tumorigenesis of Renal Cell Carcinoma by Targeting PPP1R3C.
PPP1R3C, a novel hypermethylated gene in colorectal cancer, may play a critical role in cancer cell growth in association with glucose levels.
Title: The effect of high glucose levels on the hypermethylation of protein phosphatase 1 regulatory subunit 3C (PPP1R3C) gene in colorectal cancer.
detection of methylation of PPP1R3C alone or in combination with EFHD1 in plasma DNA showed high sensitivity and specificity in CRC detection, and may be useful detection method for CRC, especially for early-stage CRCs.
Title: Aberrant promoter methylation of PPP1R3C and EFHD1 in plasma of colorectal cancer patients.
Findings suggest that variations in PTG may condition the course of Lafora disease and establish PTG as a potential target for pharmacogenetic and therapeutic approaches.
Title: A PTG variant contributes to a milder phenotype in Lafora disease.
Results demonstrated that HIF1 promotes glycogen accumulation through regulating PPP1R3C expression under hypoxia, which revealed a novel metabolic adaptation of cells to hypoxia.
Title: Hypoxia-inducible factor 1-mediated regulation of PPP1R3C promotes glycogen accumulation in human MCF-7 cells under hypoxia.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
phosphorylation of R5/PTG at Ser-8 by AMPK accelerates its laforin/malin-dependent ubiquitination and subsequent proteasomal degradation, which results in a decrease of its glycogenic activity.
Title: AMP-activated protein kinase phosphorylates R5/PTG, the glycogen targeting subunit of the R5/PTG-protein phosphatase 1 holoenzyme, and accelerates its down-regulation by the laforin-malin complex.

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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

Variation

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See variants in ClinVar

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

A004S47 (e-PCR)
- UniSTS:45124

PPP1R3C_1514 (e-PCR)
- UniSTS:277607

PPP1R3C_v518 (e-PCR)
- UniSTS:277607

WI-11129 (e-PCR)
- UniSTS:20985

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glycogen binding	IBA Inferred from Biological aspect of Ancestor more info
enables molecular adaptor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase 1 binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein phosphatase binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein serine/threonine phosphatase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in glycogen biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycogen metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of glycogen biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement 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 3C

Names: PP1 subunit R5; Phosphatase 1, regulatory inhibitor subunit 5; protein phosphatase 1 regulatory subunit 5; protein phosphatase 1, regulatory (inhibitor) subunit 3C; protein targeting to glycogen

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.