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

    Gene ID: 5506, updated on 9-Dec-2024

    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
    NEW
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    Genomic context

    See PPP1R3A in Genome Data Viewer
    Location:
    7q31.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (113876777..113919009, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (115191582..115233899, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (113516832..113559064, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901813 Neighboring gene uncharacterized LOC124901814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:113382595-113383179 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:113383180-113383763 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:113465760-113466396 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:113608629-113608855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26522 Neighboring gene VISTA enhancer hs720 Neighboring gene forkhead box P2 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:113848263-113848364 Neighboring gene ribosomal protein L36 pseudogene 13 Neighboring gene VISTA enhancer hs218 Neighboring gene VISTA enhancer hs999 Neighboring gene Sharpr-MPRA regulatory region 15446 Neighboring gene RNA, 5S ribosomal pseudogene 238

    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

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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
    XP_005250530.1
    XP_054214514.1

    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_012116.1 RefSeqGene

      Range
      5019..47251
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002711.4NP_002702.2  protein phosphatase 1 regulatory subunit 3A

      See identical proteins and their annotated locations for NP_002702.2

      Status: REVIEWED

      Source sequence(s)
      AC092465, BC126451, DB527300, X78578
      Consensus CDS
      CCDS5759.1
      UniProtKB/Swiss-Prot
      A0AVQ2, A4D0T6, O43476, Q16821, Q75LN8, Q7KYM8, Q86UI6
      Related
      ENSP00000284601.3, ENST00000284601.4
      Conserved Domains (1) summary
      pfam03370
      Location:122229
      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      113876777..113919009 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005250473.4XP_005250530.1  protein phosphatase 1 regulatory subunit 3A isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      115191582..115233899 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358539.1XP_054214514.1  protein phosphatase 1 regulatory subunit 3A isoform X1