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

Gene ID: 5506, updated on 18-May-2019

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
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

Genomic context

See PPP1R3A in Genome Data Viewer
Location:
7q31.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (113876827..113919094, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (113516882..113559082, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986837 Neighboring gene G protein-coupled receptor 85 Neighboring gene small integral membrane protein 30 Neighboring gene VISTA enhancer hs720 Neighboring gene forkhead box P2 Neighboring gene ribosomal protein L36 pseudogene 13

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Diabetes mellitus type 2
MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
NHGRI GWA Catalog

Pathways from BioSystems

  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
  • Insulin resistance, organism-specific biosystem (from KEGG)
    Insulin resistance, organism-specific biosystemInsulin resistance is a condition where cells become resistant to the effects of insulin. It is often found in people with health disorders, including obesity, type 2 diabetes mellitus, non-alcoholic...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
    Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin signaling pathway, conserved biosystem (from KEGG)
    Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin-mediated glucose transport, organism-specific biosystem (from Pathway Interaction Database)
    Insulin-mediated glucose transport, organism-specific biosystem
    Insulin-mediated glucose transport

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
glycogen metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
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

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.

Genomic

  1. NG_012116.1 RefSeqGene

    Range
    5001..47201
    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
    Q16821
    Related
    ENSP00000284601.3, ENST00000284601.3
    Conserved Domains (1) summary
    pfam03370
    Location:122229
    CBM_21; Carbohydrate/starch-binding module (family 21)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    113876827..113919094 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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