PPP1R3B protein phosphatase 1 regulatory subunit 3B [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP1R3Bprovided by HGNC
Official Full Name: protein phosphatase 1 regulatory subunit 3Bprovided by HGNC
Primary source: HGNC:HGNC:14942
See related: Ensembl:ENSG00000173281 MIM:610541; AllianceGenome:HGNC:14942
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: GL; PTG; PPP1R4
Summary: This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011]
Expression: Broad expression in liver (RPKM 50.1), heart (RPKM 12.4) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p23.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (9136255..9151539, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (10592540..10607824)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (8993765..9009049, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Protein Phosphatase 1 Regulatory Subunit 3B Genotype at rs4240624 Has a Major Effect on Gallbladder Bile Composition.
Title: Protein Phosphatase 1 Regulatory Subunit 3B Genotype at rs4240624 Has a Major Effect on Gallbladder Bile Composition.
A Noncoding Variant Near PPP1R3B Promotes Liver Glycogen Storage and MetS, but Protects Against Myocardial Infarction.
Title: A Noncoding Variant Near PPP1R3B Promotes Liver Glycogen Storage and MetS, but Protects Against Myocardial Infarction.
Genetic Variation at PPP1R3B Increases Hepatic CT Attenuation and Interacts With Prandial Status on Plasma Glucose.
Title: Genetic Variation at PPP1R3B Increases Hepatic CT Attenuation and Interacts With Prandial Status on Plasma Glucose.
Study in Danish cohort of maturity onset diabetes of the young (MODY), newly diagnosed patients with type 2 diabetes (T2D) and population-based control individuals revealed that rare missense PPP1R3B variants may predispose to T2D.
Title: Increased frequency of rare missense PPP1R3B variants among Danish patients with type 2 diabetes.
These observations are consistent with the notion that the minor allele of rs4841132 promotes a mild form of hepatic glycogenosis that is associated with hepatic injury
Title: Relationship between genetic variation at PPP1R3B and levels of liver glycogen and triglyceride.
rs9987289 A-allele was associated with plasma lactate in European-Americans but not in African-Americans.
Title: GCKR and PPP1R3B identified as genome-wide significant loci for plasma lactate: the Atherosclerosis Risk in Communities (ARIC) study.
Among Mexicans, the PNPLA3 (rs738409), LYPLAL1 (rs12137855), PPP1R3B (rs4240624), and GCKR (rs780094) polymorphisms may be associated with a greater risk of chronic liver disease among overweight adults.
Title: Association between PNPLA3 (rs738409), LYPLAL1 (rs12137855), PPP1R3B (rs4240624), GCKR (rs780094), and elevated transaminase levels in overweight/obese Mexican adults.
A novel role for PTG in protecting hepatocellular carcinoma cells from metabolic stress, in part by regulating oxidative stress and autophagy.
Title: Loss of protein targeting to glycogen sensitizes human hepatocellular carcinoma cells towards glucose deprivation mediated oxidative stress and cell death.
Some, but not all, associations between variants in NCAN, lysophospholipase-like 1, GCKR, and PPP1R3B with hepatic steatosis (with and without increased ALT level) were significant within subpopulations.
Title: Association between variants in or near PNPLA3, GCKR, and PPP1R3B with ultrasound-defined steatosis based on data from the third National Health and Nutrition Examination Survey.
Data indicate that genetic polymorphisms of the PPP1R3B gene may contribute to variations in plasma lipids and C-reactive protein (CRP) levels among Chinese Han individuals.
Title: Association of PPP1R3B polymorphisms with blood lipid and C-reactive protein levels in a Chinese population (PPP1R3B C ).

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

EBI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the expression of protein phosphatase 1, regulatory subunit 3B (PPP1R3B) in human primary T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-35151 (e-PCR)
- UniSTS:54054

D8S2279 (e-PCR)
- UniSTS:473907

STS-R62377 (e-PCR)
- UniSTS:51010

RH16360 (e-PCR)
- UniSTS:12618

PPP1R3B_1063 (e-PCR)
- UniSTS:277606

D1S1425 (e-PCR)
- UniSTS:149621

D8S1371E (e-PCR)
- UniSTS:151184

G62882 (e-PCR)
- UniSTS:140007

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables [phosphorylase] phosphatase activity	IEA Inferred from Electronic Annotation more info
enables glycogen binding	IBA Inferred from Biological aspect of Ancestor 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 regulator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in glycogen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of glycogen catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of glycogen biosynthetic 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 glycogen granule	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 3B

Names: PP1 subunit R4; hepatic glycogen-targeting protein phosphatase 1 regulatory subunit GL; hepatic glycogen-targeting subunit, G(L); protein phosphatase 1 regulatory subunit 4; protein phosphatase 1, regulatory (inhibitor) subunit 3B

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.

Genomic

NG_028089.1 RefSeqGene

Range

5985..20388

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001201329.2 → NP_001188258.1 protein phosphatase 1 regulatory subunit 3B

See identical proteins and their annotated locations for NP_001188258.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC022784, AI263711, BQ431880, DB282578

Consensus CDS

CCDS5973.1

UniProtKB/Swiss-Prot

B3KTV3, Q86XI6, Q9H812

Related

ENSP00000428642.1, ENST00000519699.1

Conserved Domains (1) summary

pfam03370
Location:127 → 232

CBM_21; Carbohydrate/starch-binding module (family 21)
NM_024607.4 → NP_078883.2 protein phosphatase 1 regulatory subunit 3B

See identical proteins and their annotated locations for NP_078883.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC022784, AI263711, BQ431880, DA100998

Consensus CDS

CCDS5973.1

UniProtKB/Swiss-Prot

B3KTV3, Q86XI6, Q9H812

Related

ENSP00000308318.3, ENST00000310455.4

Conserved Domains (1) summary

pfam03370
Location:127 → 232

CBM_21; Carbohydrate/starch-binding module (family 21)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

9136255..9151539 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047422235.1 → XP_047278191.1 protein phosphatase 1 regulatory subunit 3B isoform X1

UniProtKB/Swiss-Prot

B3KTV3, Q86XI6, Q9H812
XM_006716253.4 → XP_006716316.1 protein phosphatase 1 regulatory subunit 3B isoform X1

See identical proteins and their annotated locations for XP_006716316.1

UniProtKB/Swiss-Prot

B3KTV3, Q86XI6, Q9H812

Conserved Domains (1) summary

pfam03370
Location:127 → 232

CBM_21; Carbohydrate/starch-binding module (family 21)

Reference GRCh38.p14 PATCHES

Genomic

NW_018654717.1 Reference GRCh38.p14 PATCHES

Range

4200090..4215375

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054332264.1 → XP_054188239.1 protein phosphatase 1 regulatory subunit 3B isoform X1

UniProtKB/Swiss-Prot

B3KTV3, Q86XI6, Q9H812
XM_054332263.1 → XP_054188238.1 protein phosphatase 1 regulatory subunit 3B isoform X1

UniProtKB/Swiss-Prot

B3KTV3, Q86XI6, Q9H812

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

10592540..10607824

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054361233.1 → XP_054217208.1 protein phosphatase 1 regulatory subunit 3B isoform X1

UniProtKB/Swiss-Prot

B3KTV3, Q86XI6, Q9H812
XM_054361232.1 → XP_054217207.1 protein phosphatase 1 regulatory subunit 3B isoform X1

UniProtKB/Swiss-Prot

B3KTV3, Q86XI6, Q9H812