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    PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K [ Homo sapiens (human) ]

    Gene ID: 152926, updated on 9-Dec-2024

    Summary

    Official Symbol
    PPM1Kprovided by HGNC
    Official Full Name
    protein phosphatase, Mg2+/Mn2+ dependent 1Kprovided by HGNC
    Primary source
    HGNC:HGNC:25415
    See related
    Ensembl:ENSG00000163644 MIM:611065; AllianceGenome:HGNC:25415
    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
    BDP; PTMP; BCKDH; PP2Cm; MSUDMV; PP2Ckappa; UG0882E07
    Summary
    This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]
    Expression
    Broad expression in heart (RPKM 22.0), endometrium (RPKM 10.0) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PPM1K in Genome Data Viewer
    Location:
    4q22.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (88257620..88284561, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (91588591..91615539, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (89178772..89205713, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily G member 2 (JR blood group) Neighboring gene RNA, U6atac small nuclear 31, pseudogene Neighboring gene RNA, U6 small nuclear 1298, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:89165283-89165815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:89188029-89188528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21710 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:89205598-89206121 Neighboring gene RNA, U6 small nuclear 112, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:89217507-89218473 Neighboring gene PPM1K divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21712 Neighboring gene uncharacterized LOC124900731

    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

    Associated conditions

    Description Tests
    Maple syrup urine disease, mild variant
    MedGen: C3554575 OMIM: 615135 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
    EBI GWAS Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of protein phosphatase, Mg2+/Mn2+ dependent, 1K (PPM1K) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ35131, DKFZp667B084, DKFZp761G058

    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 [3-methyl-2-oxobutanoate dehydrogenase (lipoamide)]-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 manganese ion binding IDA
    Inferred from Direct Assay
    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 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 mitochondrial matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    protein phosphatase Mn(2+)-dependent 1K
    Names
    PP2C domain-containing protein phosphatase 1K
    PP2C-kappa
    PP2C-type mitochondrial phosphoprotein phosphatase
    [3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring)]-phosphatase, mitochondrial
    branched-chain I+/--ketoacid dehydrogenase phosphatase
    branched-chain alpha-ketoacid dehydrogenase phosphatase
    protein phosphatase 1K, mitochondrial
    protein phosphatase 2C family member
    protein phosphatase 2C kappa
    NP_689755.3
    XP_005262832.1
    XP_006714174.1
    XP_016863292.1
    XP_016863295.1
    XP_047305628.1
    XP_047305629.1
    XP_047305630.1
    XP_047305631.1
    XP_054205018.1
    XP_054205019.1
    XP_054205020.1
    XP_054205021.1
    XP_054205022.1
    XP_054205023.1
    XP_054205024.1
    XP_054205025.1

    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_032931.1 RefSeqGene

      Range
      5271..32212
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152542.5NP_689755.3  protein phosphatase Mn(2+)-dependent 1K

      See identical proteins and their annotated locations for NP_689755.3

      Status: REVIEWED

      Source sequence(s)
      AC097484, AC108213, AY435431
      Consensus CDS
      CCDS3629.1
      UniProtKB/Swiss-Prot
      B2RAZ1, Q05CT5, Q49AB5, Q4W5E6, Q56AN8, Q8IUZ7, Q8IXG7, Q8N3J5, Q8ND70, Q96NT4
      UniProtKB/TrEMBL
      A0A0A0MQZ4
      Related
      ENSP00000477341.1, ENST00000608933.6
      Conserved Domains (1) summary
      cd00143
      Location:95346
      PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      88257620..88284561 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007803.3XP_016863292.1  protein phosphatase Mn(2+)-dependent 1K isoform X1

      UniProtKB/Swiss-Prot
      B2RAZ1, Q05CT5, Q49AB5, Q4W5E6, Q56AN8, Q8IUZ7, Q8IXG7, Q8N3J5, Q8ND70, Q96NT4
      UniProtKB/TrEMBL
      A0A0A0MQZ4
      Conserved Domains (1) summary
      cd00143
      Location:95346
      PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
    2. XM_006714111.5XP_006714174.1  protein phosphatase Mn(2+)-dependent 1K isoform X1

      See identical proteins and their annotated locations for XP_006714174.1

      UniProtKB/Swiss-Prot
      B2RAZ1, Q05CT5, Q49AB5, Q4W5E6, Q56AN8, Q8IUZ7, Q8IXG7, Q8N3J5, Q8ND70, Q96NT4
      UniProtKB/TrEMBL
      A0A0A0MQZ4
      Conserved Domains (1) summary
      cd00143
      Location:95346
      PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
    3. XM_017007806.3XP_016863295.1  protein phosphatase Mn(2+)-dependent 1K isoform X2

    4. XM_047449672.1XP_047305628.1  protein phosphatase Mn(2+)-dependent 1K isoform X3

    5. XM_047449675.1XP_047305631.1  protein phosphatase Mn(2+)-dependent 1K isoform X6

      UniProtKB/TrEMBL
      V9GYZ5
    6. XM_047449674.1XP_047305630.1  protein phosphatase Mn(2+)-dependent 1K isoform X5

      UniProtKB/TrEMBL
      V9GYZ5
    7. XM_005262775.5XP_005262832.1  protein phosphatase Mn(2+)-dependent 1K isoform X4

      UniProtKB/TrEMBL
      V9GYZ5
      Conserved Domains (1) summary
      cl00120
      Location:95184
      PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
    8. XM_047449673.1XP_047305629.1  protein phosphatase Mn(2+)-dependent 1K isoform X4

      UniProtKB/TrEMBL
      V9GYZ5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      91588591..91615539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349044.1XP_054205019.1  protein phosphatase Mn(2+)-dependent 1K isoform X1

      UniProtKB/Swiss-Prot
      B2RAZ1, Q05CT5, Q49AB5, Q4W5E6, Q56AN8, Q8IUZ7, Q8IXG7, Q8N3J5, Q8ND70, Q96NT4
      UniProtKB/TrEMBL
      A0A0A0MQZ4
    2. XM_054349043.1XP_054205018.1  protein phosphatase Mn(2+)-dependent 1K isoform X1

      UniProtKB/Swiss-Prot
      B2RAZ1, Q05CT5, Q49AB5, Q4W5E6, Q56AN8, Q8IUZ7, Q8IXG7, Q8N3J5, Q8ND70, Q96NT4
      UniProtKB/TrEMBL
      A0A0A0MQZ4
    3. XM_054349045.1XP_054205020.1  protein phosphatase Mn(2+)-dependent 1K isoform X2

    4. XM_054349046.1XP_054205021.1  protein phosphatase Mn(2+)-dependent 1K isoform X3

    5. XM_054349050.1XP_054205025.1  protein phosphatase Mn(2+)-dependent 1K isoform X6

      UniProtKB/TrEMBL
      V9GYZ5
    6. XM_054349049.1XP_054205024.1  protein phosphatase Mn(2+)-dependent 1K isoform X5

      UniProtKB/TrEMBL
      V9GYZ5
    7. XM_054349047.1XP_054205022.1  protein phosphatase Mn(2+)-dependent 1K isoform X4

      UniProtKB/TrEMBL
      V9GYZ5
    8. XM_054349048.1XP_054205023.1  protein phosphatase Mn(2+)-dependent 1K isoform X4

      UniProtKB/TrEMBL
      V9GYZ5