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    PPP1R3D protein phosphatase 1 regulatory subunit 3D [ Homo sapiens (human) ]

    Gene ID: 5509, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PPP1R3Dprovided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory subunit 3Dprovided by HGNC
    Primary source
    HGNC:HGNC:9294
    See related
    Ensembl:ENSG00000132825 MIM:603326; AllianceGenome:HGNC:9294
    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
    PPP1R6
    Summary
    Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various regulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit of PP1. [provided by RefSeq, Jul 2008]
    Orthologs
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    Genomic context

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    See PPP1R3D in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (59936663..59940305, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (61720935..61724577, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (58511718..58515360, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 141 pseudogene Neighboring gene synaptonemal complex protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13091 Neighboring gene Sharpr-MPRA regulatory region 25 Neighboring gene family with sequence similarity 217 member B Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:58529519-58530020 Neighboring gene cadherin 26 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:58569287-58569819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:58611565-58612066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:58612067-58612566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18193 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:58633003-58633804 Neighboring gene long intergenic non-protein coding RNA 2910

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Structure-Function Analysis of PPP1R3D, a Protein Phosphatase 1 Targeting Subunit, Reveals a Binding Motif for 14-3-3 Proteins which Regulates its Glycogenic Properties. Rubio-Villena C, et al. PLoS One, 2015. PMID 26114292, Free PMC Article
    2. Host miR-4301 promotes rotavirus replication via PPP1R3D in Caco-2 cells. Song L, et al. J Med Virol, 2021 Nov. PMID 34260071
    3. Glycogenic activity of R6, a protein phosphatase 1 regulatory subunit, is modulated by the laforin-malin complex. Rubio-Villena C, et al. Int J Biochem Cell Biol, 2013 Jul. PMID 23624058
    4. The interaction between AMPKβ2 and the PP1-targeting subunit R6 is dynamically regulated by intracellular glycogen content. Oligschlaeger Y, et al. Biochem J, 2016 Apr 1. PMID 26831516
    5. PPP1R6, a novel member of the family of glycogen-targetting subunits of protein phosphatase 1. Armstrong CG, et al. FEBS Lett, 1997 Nov 24. PMID 9414128

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Host miR-4301 promotes rotavirus replication via PPP1R3D in Caco-2 cells.
      Title: Host miR-4301 promotes rotavirus replication via PPP1R3D in Caco-2 cells.
    2. These data are in accordance with R6 binding directly to AMPKbeta2 when both proteins detach from the diminishing glycogen particle, which is simultaneous with increased AMPKbeta2 Thr-148 autophosphorylation.
      Title: The interaction between AMPKβ2 and the PP1-targeting subunit R6 is dynamically regulated by intracellular glycogen content.
    3. These results define binding to 14-3-3 proteins as an additional pathway in the control of the glycogenic properties of PPP1R3D (R6).
      Title: Structure-Function Analysis of PPP1R3D, a Protein Phosphatase 1 Targeting Subunit, Reveals a Binding Motif for 14-3-3 Proteins which Regulates its Glycogenic Properties.
    4. In this work we present evidence that PPP1R3D (R6), one of the PP1 glycogenic targeting subunits, interacts physically with laforin, a glucan phosphatase involved in Lafora disease, a fatal type of progressive myoclonus epilepsy.
      Title: Glycogenic activity of R6, a protein phosphatase 1 regulatory subunit, is modulated by the laforin-malin complex.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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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

    Homology

    Clone Names

    • DKFZp781L2441

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 serine/threonine phosphatase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    involved_in regulation of glycogen catabolic process IEA
    Inferred from Electronic Annotation
    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 3D
    Names
    PP1 subunit R6
    protein phosphatase 1 regulatory subunit 6
    protein phosphatase 1, regulatory (inhibitor) subunit 3D
    protein phosphatase 1, regulatory subunit 6, spinophilin
    protein phosphatase 1-binding subunit R6
    NP_006233.1

    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.

    mRNA and Protein(s)

    1. NM_006242.4 → NP_006233.1  protein phosphatase 1 regulatory subunit 3D

      See identical proteins and their annotated locations for NP_006233.1

      Status: REVIEWED

      Source sequence(s)
      AL109928
      Consensus CDS
      CCDS13483.1
      UniProtKB/Swiss-Prot
      O95685, Q6DK02
      UniProtKB/TrEMBL
      Q86X09
      Related
      ENSP00000360035.3, ENST00000370996.5
      Conserved Domains (1) summary
      pfam03370
      Location:171 → 277
      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      59936663..59940305 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      61720935..61724577 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95685.1 GenPept UniProtKB/Swiss-Prot:O95685

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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