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

Gene ID: 89801, updated on 3-Apr-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
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Genomic context

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Location:
Xp11.23
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (49269793..49301469)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48681633..48713324)
105.20220307 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. 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
  2. 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
  3. 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
  4. 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
  5. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Piton A, et al. Mol Psychiatry, 2011 Aug. PMID 20479760, Free PMC Article

See all (20) 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)

Genotypes

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_2023_10

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

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