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    PPP6R1 protein phosphatase 6 regulatory subunit 1 [ Homo sapiens (human) ]

    Gene ID: 22870, updated on 27-Dec-2024

    Summary

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    Official Symbol
    PPP6R1provided by HGNC
    Official Full Name
    protein phosphatase 6 regulatory subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:29195
    See related
    Ensembl:ENSG00000105063 MIM:610875; AllianceGenome:HGNC:29195
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PP6R1; SAPS1; SAP190; KIAA1115
    Summary
    Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]
    Expression
    Broad expression in testis (RPKM 56.4), lymph node (RPKM 37.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP6R1 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55228218..55259017, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58322178..58352962, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55741147..55770385, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55701037-55701536 Neighboring gene protein tyrosine phosphatase receptor type H Neighboring gene uncharacterized LOC124904771 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55729317-55729503 Neighboring gene transmembrane protein 86B Neighboring gene microRNA 6804 Neighboring gene microRNA 6802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15079 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15084 Neighboring gene microRNA 6803 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55768465-55768658 Neighboring gene Sharpr-MPRA regulatory region 13763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55781781-55782280 Neighboring gene HSPA (Hsp70) binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55789069-55789569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11021 Neighboring gene BR serine/threonine kinase 1 Neighboring gene Sharpr-MPRA regulatory region 11129 Neighboring gene transmembrane protein 150B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. PP6 regulatory subunit R1 is bidentate anchor for targeting protein phosphatase-6 to DNA-dependent protein kinase. Hosing AS, et al. J Biol Chem, 2012 Mar 16. PMID 22298787, Free PMC Article
    2. Protein phosphatase 6 interacts with the DNA-dependent protein kinase catalytic subunit and dephosphorylates gamma-H2AX. Douglas P, et al. Mol Cell Biol, 2010 Mar. PMID 20065038, Free PMC Article
    3. Role of the Rho GTPase-activating protein RICS in neurite outgrowth. Nasu-Nishimura Y, et al. Genes Cells, 2006 Jun. PMID 16716191
    4. Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains. Stefansson B, et al. Biochemistry, 2008 Feb 5. PMID 18186651
    5. Human protein phosphatase PP6 regulatory subunits provide Sit4-dependent and rapamycin-sensitive sap function in Saccharomyces cerevisiae. Morales-Johansson H, et al. PLoS One, 2009 Jul 21. PMID 19621075, Free PMC Article

    See all (103) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PP6 regulatory subunit R1 is bidentate anchor for targeting protein phosphatase-6 to DNA-dependent protein kinase.
      Title: PP6 regulatory subunit R1 is bidentate anchor for targeting protein phosphatase-6 to DNA-dependent protein kinase.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138185, MGC142003

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein phosphatase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein phosphatase regulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serine/threonine-protein phosphatase 6 regulatory subunit 1
    Names
    SAPS domain family, member 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_014931.4 → NP_055746.3  serine/threonine-protein phosphatase 6 regulatory subunit 1

      See identical proteins and their annotated locations for NP_055746.3

      Status: VALIDATED

      Source sequence(s)
      AC010327, AC116342, AL544921, BC002799, BG772019
      Consensus CDS
      CCDS46186.1
      UniProtKB/Swiss-Prot
      Q2M2H3, Q504V2, Q6NVJ6, Q9BU97, Q9UPN7
      Related
      ENSP00000414202.1, ENST00000412770.7
      Conserved Domains (2) summary
      PHA03195
      Location:742 → 875
      PHA03195; tegument protein VP11/12; Provisional
      pfam04499
      Location:128 → 519
      SAPS; SIT4 phosphatase-associated protein

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55228218..55259017 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438423.1 → XP_047294379.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    2. XM_047438429.1 → XP_047294385.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    3. XM_047438426.1 → XP_047294382.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    4. XM_047438425.1 → XP_047294381.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    5. XM_047438432.1 → XP_047294388.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    6. XM_047438431.1 → XP_047294387.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    7. XM_047438427.1 → XP_047294383.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    8. XM_047438424.1 → XP_047294380.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    9. XM_047438428.1 → XP_047294384.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    10. XM_047438422.1 → XP_047294378.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    11. XM_047438430.1 → XP_047294386.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    12. XM_047438420.1 → XP_047294376.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X1

    13. XM_047438421.1 → XP_047294377.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X2

      UniProtKB/Swiss-Prot
      Q2M2H3, Q504V2, Q6NVJ6, Q9BU97, Q9UPN7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58322178..58352962 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320227.1 → XP_054176202.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    2. XM_054320230.1 → XP_054176205.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    3. XM_054320229.1 → XP_054176204.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    4. XM_054320228.1 → XP_054176203.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    5. XM_054320226.1 → XP_054176201.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X3

    6. XM_054320224.1 → XP_054176199.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X1

    7. XM_054320225.1 → XP_054176200.1  serine/threonine-protein phosphatase 6 regulatory subunit 1 isoform X2

      UniProtKB/Swiss-Prot
      Q2M2H3, Q504V2, Q6NVJ6, Q9BU97, Q9UPN7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UPN7.5 GenPept UniProtKB/Swiss-Prot:Q9UPN7

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