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    PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D [ Homo sapiens (human) ]

    Gene ID: 8493, updated on 10-Dec-2024

    Summary

    Official Symbol
    PPM1Dprovided by HGNC
    Official Full Name
    protein phosphatase, Mg2+/Mn2+ dependent 1Dprovided by HGNC
    Primary source
    HGNC:HGNC:9277
    See related
    Ensembl:ENSG00000170836 MIM:605100; AllianceGenome:HGNC:9277
    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
    JDVS; WIP1; IDDGIP; PP2C-DELTA
    Summary
    The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 7.0), ovary (RPKM 5.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PPM1D in Genome Data Viewer
    Location:
    17q23.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (60600193..60666280)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (61468992..61535104)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (58677554..58743641)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene splicing factor 3B subunit 6-like Neighboring gene amyloid beta precursor protein binding protein 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:58602514-58603222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8794 Neighboring gene MPRA-validated peak2927 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr17:58656843-58657505 Neighboring gene MPRA-validated peak2928 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:58677476-58678463 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:58676487-58677475 Neighboring gene long intergenic non-protein coding RNA 1999 Neighboring gene MPRA-validated peak2930 silencer Neighboring gene ribosomal protein SA pseudogene 66 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8795 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:58754592-58755345 Neighboring gene MPRA-validated peak2931 silencer Neighboring gene RNA, U6 small nuclear 623, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr17:58784318-58784508 Neighboring gene RNA, 7SL, cytoplasmic 606, pseudogene Neighboring gene ribosomal protein L36a pseudogene 46 Neighboring gene BCAS3 microtubule associated cell migration factor

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-03-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    No evidence available (Last evaluated 2023-03-28)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables MAP kinase serine/threonine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables calmodulin-dependent protein phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXS140 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables mitogen-activated protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables mitogen-activated protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables myosin phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
     
    enables protein serine/threonine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein serine/threonine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein phosphatase 1D
    Names
    protein phosphatase Wip1
    wild-type p53-induced phosphatase 1
    NP_003611.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_023265.1 RefSeqGene

      Range
      4991..71088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_770

    mRNA and Protein(s)

    1. NM_003620.4NP_003611.1  protein phosphatase 1D

      See identical proteins and their annotated locations for NP_003611.1

      Status: REVIEWED

      Source sequence(s)
      AC110602, BC060877, BU616782, U78305
      Consensus CDS
      CCDS11625.1
      UniProtKB/Swiss-Prot
      O15297, Q53XP4, Q6P991, Q8IVR6
      UniProtKB/TrEMBL
      A0A0S2Z4M2, B2R7A1, Q8NEA7
      Related
      ENSP00000306682.2, ENST00000305921.8
      Conserved Domains (1) summary
      pfam00481
      Location:67368
      PP2C; Protein phosphatase 2C

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      60600193..60666280
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_934577.3 RNA Sequence

      Related
      ENST00000685212.1
    2. XR_007065507.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      61468992..61535104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008484957.1 RNA Sequence

    2. XR_008484956.1 RNA Sequence