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    PPP1R3F protein phosphatase 1 regulatory subunit 3F [ Homo sapiens (human) ]

    Gene ID: 89801, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PPP1R3Fprovided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory subunit 3Fprovided by HGNC
    Primary source
    HGNC:HGNC:14944
    See related
    Ensembl:ENSG00000049769 MIM:301104; AllianceGenome:HGNC:14944
    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
    R3F; HB2E; LL0XNC01-7P3.1
    Summary
    This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
    Expression
    Broad expression in brain (RPKM 2.6), heart (RPKM 1.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP1R3F in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (49269793..49301469)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48681633..48713324)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49126256..49144552)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 22 Neighboring gene forkhead box P3 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:49125345-49125844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20845 Neighboring gene FOXP3 regulating long intergenic non-coding RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49133671-49134170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29638 Neighboring gene uncharacterized LOC124905188 Neighboring gene G antigen 10 Neighboring gene G antigen 12J

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. Liu Z, et al. Hum Mol Genet, 2023 Oct 4. PMID 37531237, Free PMC Article
    2. R3F, a novel membrane-associated glycogen targeting subunit of protein phosphatase 1 regulates glycogen synthase in astrocytoma cells in response to glucose and extracellular signals. Kelsall IR, et al. J Neurochem, 2011 Aug. PMID 21668450
    3. Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk. Tian T, et al. Cancer Med, 2021 Jul. PMID 34145793, Free PMC Article
    4. Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk. Suttner K, et al. J Allergy Clin Immunol, 2010 Jun. PMID 20398921
    5. Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval. Schindelhauer D, et al. Genome Res, 1996 Nov. PMID 8938429

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
      Title: Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
    2. Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk.
      Title: Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
    4. Maps this gene as HB2E at the DXS9823E marker sequence.
      Title: Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glycogen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glycogen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein phosphatase 1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within regulation of glycogen (starch) synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of glycogen biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of glycogen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 3F
    Names
    protein phosphatase 1, regulatory (inhibitor) subunit 3F

    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

    1. NG_021273.2 RefSeqGene

      Range
      5002..23299
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184745.2 → NP_001171674.1  protein phosphatase 1 regulatory subunit 3F isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a portion of the 5' coding region, uses a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and lacks an internal residue, compared to isoform 1.
      Source sequence(s)
      AC232271, AI694535, AI699647, BC110405, BC131588, BE670223, DC412626
      Consensus CDS
      CCDS55415.1
      UniProtKB/TrEMBL
      B3KPF8
      Related
      ENSP00000417535.1, ENST00000495799.5

    2. NM_033215.5 → NP_149992.3  protein phosphatase 1 regulatory subunit 3F isoform 1

      See identical proteins and their annotated locations for NP_149992.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC232271, AI694535, AI699647, AK056909, BE670223, BF726691, DC412626
      Consensus CDS
      CCDS35254.1
      UniProtKB/Swiss-Prot
      A2VDJ8, B3KPW2, E9PCM3, Q6ZSY5
      UniProtKB/TrEMBL
      A0A494C178
      Related
      ENSP00000055335.6, ENST00000055335.11
      Conserved Domains (1) summary
      pfam03370
      Location:163 → 283
      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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      49269793..49301469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029934.2 → XP_016885423.1  protein phosphatase 1 regulatory subunit 3F isoform X4

    2. XM_047442614.1 → XP_047298570.1  protein phosphatase 1 regulatory subunit 3F isoform X5

    3. XM_005272687.4 → XP_005272744.1  protein phosphatase 1 regulatory subunit 3F isoform X1

      UniProtKB/TrEMBL
      A0A494C178
      Conserved Domains (1) summary
      pfam03370
      Location:163 → 283
      CBM_21; Carbohydrate/starch-binding module (family 21)

    4. XM_017029932.2 → XP_016885421.1  protein phosphatase 1 regulatory subunit 3F isoform X2

      UniProtKB/TrEMBL
      B4E199

    5. XM_017029933.2 → XP_016885422.1  protein phosphatase 1 regulatory subunit 3F isoform X3

      UniProtKB/TrEMBL
      B4E199

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48681633..48713324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328064.1 → XP_054184039.1  protein phosphatase 1 regulatory subunit 3F isoform X4

    2. XM_054328065.1 → XP_054184040.1  protein phosphatase 1 regulatory subunit 3F isoform X5

    3. XM_054328061.1 → XP_054184036.1  protein phosphatase 1 regulatory subunit 3F isoform X1

    4. XM_054328062.1 → XP_054184037.1  protein phosphatase 1 regulatory subunit 3F isoform X2

    5. XM_054328063.1 → XP_054184038.1  protein phosphatase 1 regulatory subunit 3F isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZSY5.3 GenPept UniProtKB/Swiss-Prot:Q6ZSY5

    Gene LinkOut

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