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

    Gene ID: 79660, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PPP1R3B in Genome Data Viewer
    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_000008.11Genomic Context describing neighboring genes Neighboring gene exoribonuclease 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:8935205-8935705 Neighboring gene RNA, U7 small nuclear 55 pseudogene Neighboring gene uncharacterized LOC112268402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:8989159-8989659 Neighboring gene Sharpr-MPRA regulatory region 9732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:8997999-8998498 Neighboring gene uncharacterized LOC124901882 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:9007568-9008516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18906 Neighboring gene PPP1R3B divergent transcript Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:9040517-9041502 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:9041503-9042488 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:9046079-9047278 Neighboring gene uncharacterized LOC101929128

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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
    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
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog
    Genome-wide association study of Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    EBI GWAS Catalog
    Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
    EBI GWAS Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog
    Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
    EBI GWAS Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14005, FLJ34675

    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

    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)

    NEW Try the new Transcript table

    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

    1. NG_028089.1 RefSeqGene

      Range
      5985..20388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001201329.2NP_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:127232
      CBM_21; Carbohydrate/starch-binding module (family 21)
    2. NM_024607.4NP_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:127232
      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

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      9136255..9151539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      B3KTV3, Q86XI6, Q9H812
    2. XM_006716253.4XP_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:127232
      CBM_21; Carbohydrate/starch-binding module (family 21)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      4200090..4215375
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      B3KTV3, Q86XI6, Q9H812
    2. XM_054332263.1XP_054188238.1  protein phosphatase 1 regulatory subunit 3B isoform X1

      UniProtKB/Swiss-Prot
      B3KTV3, Q86XI6, Q9H812

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      10592540..10607824
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      B3KTV3, Q86XI6, Q9H812
    2. XM_054361232.1XP_054217207.1  protein phosphatase 1 regulatory subunit 3B isoform X1

      UniProtKB/Swiss-Prot
      B3KTV3, Q86XI6, Q9H812