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    PPM1H protein phosphatase, Mg2+/Mn2+ dependent 1H [ Homo sapiens (human) ]

    Gene ID: 57460, updated on 28-Oct-2024

    Summary

    Official Symbol
    PPM1Hprovided by HGNC
    Official Full Name
    protein phosphatase, Mg2+/Mn2+ dependent 1Hprovided by HGNC
    Primary source
    HGNC:HGNC:18583
    See related
    Ensembl:ENSG00000111110 MIM:616016; AllianceGenome:HGNC:18583
    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
    URCC2; ARHCL1; NERPP-2C
    Summary
    Enables identical protein binding activity and phosphoprotein phosphatase activity. Predicted to be involved in protein dephosphorylation. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in brain (RPKM 7.7), prostate (RPKM 6.7) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PPM1H in Genome Data Viewer
    Location:
    12q14.1-q14.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (62643994..62935150, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (62622756..62913942, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (63037774..63328930, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:62995817-62996340 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:62996341-62996862 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:62996863-62997384 and GRCh37_chr12:62997385-62997906 Neighboring gene MIRLET7I host gene Neighboring gene long intergenic non-protein coding RNA 1465 Neighboring gene microRNA let-7i Neighboring gene NANOG hESC enhancer GRCh37_chr12:63022918-63023636 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:63023962-63024586 Neighboring gene MPRA-validated peak1753 silencer Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:63047149-63047770 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:63047771-63048392 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:63049635-63050255 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:63052702-63053227 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:63053228-63053754 Neighboring gene ribosomal protein L32 pseudogene 26 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:63095785-63096388 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:63097597-63098198 Neighboring gene NANOG hESC enhancer GRCh37_chr12:63111348-63111860 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:63118179-63119378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6584 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 44 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4610 Neighboring gene uncharacterized LOC105369795 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:63259550-63260379 Neighboring gene RNA, U1 small nuclear 83, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr12:63301007-63301189 Neighboring gene Sharpr-MPRA regulatory region 8347 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:63328139-63328640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4611 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_30791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:63366053-63366574 Neighboring gene ribosomal protein L14 pseudogene 1 Neighboring gene chromosome 6 open reading frame 35 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13253, KIAA1157

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables myosin phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphoprotein phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein phosphatase 1H
    Names
    neurite extension-related protein phosphatase related to PP2C
    protein phosphatase 1H (PP2C domain containing)
    ras homolog gene family, member C like 1
    NP_065751.1
    XP_011536880.1
    XP_016875165.1
    XP_054228588.1
    XP_054228589.1

    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.

    mRNA and Protein(s)

    1. NM_020700.2NP_065751.1  protein phosphatase 1H

      See identical proteins and their annotated locations for NP_065751.1

      Status: VALIDATED

      Source sequence(s)
      AB032983, AC048341, AC078814, DA396561
      Consensus CDS
      CCDS44934.1
      UniProtKB/Swiss-Prot
      B1Q2A9, B2RXG4, Q6PI86, Q9ULR3
      Related
      ENSP00000228705.5, ENST00000228705.7
      Conserved Domains (1) summary
      cd00143
      Location:143507
      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      62643994..62935150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538578.3XP_011536880.1  protein phosphatase 1H isoform X1

      See identical proteins and their annotated locations for XP_011536880.1

      Conserved Domains (1) summary
      cd00143
      Location:105469
      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_017019676.3XP_016875165.1  protein phosphatase 1H isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      62622756..62913942 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372613.1XP_054228588.1  protein phosphatase 1H isoform X1

    2. XM_054372614.1XP_054228589.1  protein phosphatase 1H isoform X2