PPP1R3C protein phosphatase 1, regulatory subunit 3C [Homo sapiens] - Gene

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Summary

Official Symbol: PPP1R3Cprovided by HGNC
Official Full Name: protein phosphatase 1, regulatory subunit 3Cprovided by HGNC
Primary source: HGNC:9293
See related: Ensembl:ENSG00000119938; HPRD:04298; MIM:602999; Vega:OTTHUMG00000018745
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PPP1R5
Summary: This gene encodes a regulatory subunit of protein phosphatase-1 (PP1). PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities: neuronal, muscular, RNA splicing, protein synthesis, cell death, and glycogen metabolism, to name just a few. By interacting with different regulatory subunits, PP1 is directed to different parts of the cell, to different substrates, or to respond to extracellular signals. [provided by RefSeq, Oct 2011]

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Genomic context

Location :: 10q23-q24

Sequence :: Chromosome: 10; NC_000010.10 (93388199..93392858, complement)

See PPP1R3C in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:111500	BioGRID:113679	EPM2A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111500	BioGRID:132073	NHLRC1	BioGRID	PubMed	Biochemical Activity; Two-hybrid
BioGRID:111500	BioGRID:111493	PPP1CA	BioGRID	PubMed	Two-hybrid
BioGRID:111500	BioGRID:112347	SGTA	BioGRID	PubMed	Two-hybrid
BioGRID:111500	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
enzyme binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein serine/threonine phosphatase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
regulation of glycogen biosynthetic process	IEA Inferred from Electronic Annotation more info
regulation of glycogen catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
glycogen granule	IEA Inferred from Electronic Annotation more info
microsome	IEA Inferred from Electronic Annotation more info
soluble fraction	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: protein phosphatase 1 regulatory subunit 3C

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

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_005398.5 → NP_005389.1 protein phosphatase 1 regulatory subunit 3C

Status: VALIDATED

Source sequence(s)

AI766011, AK313149, BC012625, BP202053

Consensus CDS

CCDS7416.1

UniProtKB/Swiss-Prot

Q9UQK1

Related

ENSP00000238994, OTTHUMP00000020089, ENST00000238994, OTTHUMT00000049372

Conserved Domains (1) summary

pfam03370
Location:153 – 256
Blast Score: 418

CBM_21; Putative phosphatase regulatory subunit

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p5 Primary Assembly

Range

93388199..93392858, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

87016756..87021415, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF110824.1	AAD33215.1
genomic	AL359986.15	CAH69995.1
genomic	CH471066.2	EAW50107.1
mRNA	AF087874.1	AAM10502.1
mRNA	AI766011.1	None
mRNA	AK299392.1	BAG61377.1
mRNA	AK299398.1	BAG61382.1
mRNA	AK313149.1	BAG35967.1
mRNA	BC012625.1	AAH12625.1
mRNA	BP202053.1	None
mRNA	BX537399.1	CAD97641.1
mRNA	Y18207.1	CAA77082.1
other-genetic	AM393091.1	CAL37969.1