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    PPP1R10 protein phosphatase 1 regulatory subunit 10 [ Homo sapiens (human) ]

    Gene ID: 5514, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PPP1R10provided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory subunit 10provided by HGNC
    Primary source
    HGNC:HGNC:9284
    See related
    Ensembl:ENSG00000204569 MIM:603771; AllianceGenome:HGNC:9284
    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
    p99; FB19; R111; CAT53; PNUTS; PP1R10
    Summary
    This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
    Expression
    Ubiquitous expression in thyroid (RPKM 17.1), adrenal (RPKM 16.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP1R10 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (30600413..30617243, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30464593..30482813, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30568190..30585020, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30524110-30524674 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30524675-30525239 Neighboring gene proline rich 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30538839-30539400 Neighboring gene ATP binding cassette subfamily F member 1 Neighboring gene microRNA 877 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:30577096-30578295 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30585278-30585846 Neighboring gene mitochondrial ribosomal protein S18B Neighboring gene Sharpr-MPRA regulatory region 13793 Neighboring gene alpha tubulin acetyltransferase 1 Neighboring gene prothymosin alpha pseudogene 1

    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 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. Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region. Totaro A, et al. Genomics, 1996 Feb 1. PMID 8838313
    2. Phosphatase 1 Nuclear Targeting Subunit (PNUTS) Regulates Aurora Kinases and Mitotic Progression. Wang F, et al. Mol Cancer Res, 2019 Jan. PMID 30190438
    3. MYC dephosphorylation by the PP1/PNUTS phosphatase complex regulates chromatin binding and protein stability. Dingar D, et al. Nat Commun, 2018 Aug 29. PMID 30158517, Free PMC Article
    4. A regulated PNUTS mRNA to lncRNA splice switch mediates EMT and tumour progression. Grelet S, et al. Nat Cell Biol, 2017 Sep. PMID 28825698, Free PMC Article
    5. PNUTS enhances in vitro chromosome decondensation in a PP1-dependent manner. Landsverk HB, et al. Biochem J, 2005 Sep 15. PMID 15907195, Free PMC Article

    See all (126) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Alternatively-spliced lncRNA-PNUTS promotes HCC cell EMT via regulating ZEB1 expression.
      Title: Alternatively-spliced lncRNA-PNUTS promotes HCC cell EMT via regulating ZEB1 expression.
    2. Upregulation of Phosphatase 1 Nuclear-Targeting Subunit (PNUTS) Is an Independent Predictor of Poor Prognosis in Prostate Cancer.
      Title: Upregulation of Phosphatase 1 Nuclear-Targeting Subunit (PNUTS) Is an Independent Predictor of Poor Prognosis in Prostate Cancer.
    3. Poly(A) site-dependent deceleration caused by PNUTS-PP1 and Spt5 dephosphorylation is required to convert Pol II into a viable target for the Xrn2 terminator exonuclease, leading to transcription termination.
      Title: Control of RNA Pol II Speed by PNUTS-PP1 and Spt5 Dephosphorylation Facilitates Termination by a "Sitting Duck Torpedo" Mechanism.
    4. PNUTS depletion suppresses the activation of Aurora A/B kinases, and disrupts the spatiotemporal regulation of the chromosomal passenger complex (CPC). PNUTS dynamically localizes to kinetochores, and is required for the activation of the spindle assembly checkpoint.
      Title: Phosphatase 1 Nuclear Targeting Subunit (PNUTS) Regulates Aurora Kinases and Mitotic Progression.
    5. The work demonstrates that PP1/PNUTS stabilizes chromatin-bound MYC in proliferating cells.
      Title: MYC dephosphorylation by the PP1/PNUTS phosphatase complex regulates chromatin binding and protein stability.
    6. A -31 G to A "hot zone" putative functional noncoding variant of PPP1R10 was found in an AML patient. It perturbs the binding activities of E2F1, E2F4, ZBTB33, and TBP. SRSF1 and PPP1R10 genes are interacting partners in a protein-protein interaction network.
      Title: Identification of Novel Functional Variants of SIN3A and SRSF1 among Somatic Variants in Acute Myeloid Leukemia Patients.
    7. PNUTS is a bifunctional RNA encoding both PNUTS mRNA and lncRNA-PNUTS, each eliciting distinct biological functions. While PNUTS mRNA is ubiquitously expressed, lncRNA-PNUTS appears to be tightly regulated dependent on the status of hnRNP E1 and tumour context.
      Title: A regulated PNUTS mRNA to lncRNA splice switch mediates EMT and tumour progression.
    8. Biophysical analysis of PNUTS suggests an extended transcription factor TFIIS-like fold.
      Title: Biophysical Analysis of the N-Terminal Domain from the Human Protein Phosphatase 1 Nuclear Targeting Subunit PNUTS Suggests an Extended Transcription Factor TFIIS-Like Fold.
    9. PNUTS was a valid target of miR-383 and was involved in the inhibition of gammaH2AX.
      Title: microRNA-383 impairs phosphorylation of H2AX by targeting PNUTS and inducing cell cycle arrest in testicular embryonal carcinoma cells.
    10. PNUTS inhibits the PP1-mediated dephosphorylation of critical substrates, especially retinoblastoma protein, by blocking their binding sites on PP1.
      Title: Understanding the antagonism of retinoblastoma protein dephosphorylation by PNUTS provides insights into the PP1 regulatory code.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV transcription is restricted by the dissociation of a functional P-TEFb complex (CCNT1-CDK9) caused by PPP1R10 (PNUTS) PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Depletion of protein phosphatase 1, regulatory subunit 10 (PPP1R10) by siRNA enhances HIV-1 Tat activation of HIV-1 LTR, which is not the results of increased Tat expression and release of CDK9/CCNT1 from 7SK snRNP, and activation of NF-kappaB PubMed
    capsid gag CA expression increases whilst endogeneous PPP1R10 (PNUTS) expression decreases in HIV-1 (NL4-3) infected MOLT-3 cells over time PubMed
    gag MIR34A (miR-34A)-mediated increase in CA expression is inversely proportional to PPP1R10 (PNUTS) expression in HEK 293T cells co-transfected with pNL4-3, MIR34A and Myc-PNUTS PubMed

    Go to the HIV-1, Human Interaction Database

    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 DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase 1 binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein phosphatase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of cardiac muscle cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of mitotic DNA damage checkpoint IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein import into nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of PTW/PP1 phosphatase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in chromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    colocalizes_with chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine/threonine-protein phosphatase 1 regulatory subunit 10
    Names
    HLA-C associated transcript 53
    MHC class I region proline-rich protein CAT53
    PP1-binding protein of 114 kDa
    phosphatase 1 nuclear targeting subunit
    protein phosphatase 1, regulatory (inhibitor) subunit 10
    testis tissue sperm-binding protein Li 67n

    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_001376195.1 → NP_001363124.1  serine/threonine-protein phosphatase 1 regulatory subunit 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. Variants 1 and 3 both encode the same protein.
      Source sequence(s)
      AL662800
      Consensus CDS
      CCDS4681.1
      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0
      Conserved Domains (3) summary
      TIGR01385
      Location:102 → 215
      TFSII; transcription elongation factor S-II
      pfam18044
      Location:910 → 932
      zf-CCCH_4; CCCH-type zinc finger
      cl00146
      Location:102 → 146
      TFIIS_I; N-terminal domain (domain I) of transcription elongation factor S-II (TFIIS); similar to a domain found in elongin A and CRSP70; likely to be involved in transcription; domain I from TFIIS interacts with RNA polymerase II holoenzyme

    2. NM_002714.4 → NP_002705.2  serine/threonine-protein phosphatase 1 regulatory subunit 10

      See identical proteins and their annotated locations for NP_002705.2

      Status: REVIEWED

      Source sequence(s)
      AJ544537, BC150310
      Consensus CDS
      CCDS4681.1
      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0
      Related
      ENSP00000365694.2, ENST00000376511.7
      Conserved Domains (3) summary
      TIGR01385
      Location:102 → 215
      TFSII; transcription elongation factor S-II
      pfam18044
      Location:910 → 932
      zf-CCCH_4; CCCH-type zinc finger
      cl00146
      Location:102 → 146
      TFIIS_I; N-terminal domain (domain I) of transcription elongation factor S-II (TFIIS); similar to a domain found in elongin A and CRSP70; likely to be involved in transcription; domain I from TFIIS interacts with RNA polymerase II holoenzyme

    RNA

    1. NR_072994.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL662800

    2. NR_164780.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL662800

    3. NR_164781.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL662800

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      30600413..30617243 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514722.2 → XP_011513024.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      See identical proteins and their annotated locations for XP_011513024.1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0
      Conserved Domains (3) summary
      TIGR01385
      Location:102 → 215
      TFSII; transcription elongation factor S-II
      pfam18044
      Location:910 → 932
      zf-CCCH_4; CCCH-type zinc finger
      cl00146
      Location:102 → 146
      TFIIS_I; N-terminal domain (domain I) of transcription elongation factor S-II (TFIIS); similar to a domain found in elongin A and CRSP70; likely to be involved in transcription; domain I from TFIIS interacts with RNA polymerase II holoenzyme

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2080137..2098356 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329833.1 → XP_054185808.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0

    2. XM_054329834.1 → XP_054185809.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1856243..1874462 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330317.1 → XP_054186292.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0

    2. XM_054330318.1 → XP_054186293.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      1910642..1928854 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330614.1 → XP_054186589.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0

    2. XM_054330615.1 → XP_054186590.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      1944460..1962680 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330834.1 → XP_054186809.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0

    2. XM_054330835.1 → XP_054186810.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      1855502..1873720 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331094.1 → XP_054187069.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0

    2. XM_054331095.1 → XP_054187070.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      1901171..1919390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331365.1 → XP_054187340.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0

    2. XM_054331366.1 → XP_054187341.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      30464593..30482813 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355770.1 → XP_054211745.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0

    2. XM_054355771.1 → XP_054211746.1  serine/threonine-protein phosphatase 1 regulatory subunit 10 isoform X1

      UniProtKB/Swiss-Prot
      O00405, Q96QC0
      UniProtKB/TrEMBL
      A0A1U9X8C5, Q2L6I0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96QC0.1 GenPept UniProtKB/Swiss-Prot:Q96QC0

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