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    PPM1L protein phosphatase, Mg2+/Mn2+ dependent 1L [ Homo sapiens (human) ]

    Gene ID: 151742, updated on 14-Nov-2024

    Summary

    Official Symbol
    PPM1Lprovided by HGNC
    Official Full Name
    protein phosphatase, Mg2+/Mn2+ dependent 1Lprovided by HGNC
    Primary source
    HGNC:HGNC:16381
    See related
    Ensembl:ENSG00000163590 MIM:611931; AllianceGenome:HGNC:16381
    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
    PP2CE; PPM1-LIKE; PP2C-epsilon
    Summary
    The protein encoded by this gene is a magnesium or manganese-requiring phosphatase that is involved in several signaling pathways. The encoded protein downregulates apoptosis signal-regulating kinase 1, a protein that initiates a signaling cascade that leads to apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps regulate ceramide transport from the endoplasmic reticulum to the Golgi apparatus. Finally, this gene may be involved in adiposity since it is upregulated in adipose tissues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in brain (RPKM 9.7), thyroid (RPKM 6.9) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PPM1L in Genome Data Viewer
    Location:
    3q25.33-q26.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (160756231..161078902)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (163530851..163853639)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (160474019..160796690)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA72 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14861 Neighboring gene PPM1L divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20765 Neighboring gene Sharpr-MPRA regulatory region 1323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14862 Neighboring gene MPRA-validated peak4889 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:160701588-160702158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20767 Neighboring gene uncharacterized LOC124909453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14864 Neighboring gene beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group) Neighboring gene uncharacterized LOC124906300 Neighboring gene uncharacterized LOC105374186

    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 analysis of methotrexate pharmacogenomics in rheumatoid arthritis shows multiple novel risk variants and leads for TYMS regulation.
    EBI GWAS Catalog
    Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC132545, MGC132547

    Gene Ontology Provided by GOA

    General protein information

    Preferred Names
    protein phosphatase 1L
    Names
    PP2C epsilon
    NP_001304840.1
    NP_001304841.1
    NP_640338.2
    XP_011510742.1
    XP_054201313.1

    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_001317911.2NP_001304840.1  protein phosphatase 1L isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon in place of that of variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC021649, AC117413, AK055115, AW274846, BC104885
      Consensus CDS
      CCDS82868.1
      UniProtKB/Swiss-Prot
      Q5SGD2
      Related
      ENSP00000295839.9, ENST00000295839.9
      Conserved Domains (1) summary
      cd00143
      Location:8224
      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. NM_001317912.2NP_001304841.1  protein phosphatase 1L isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses two alternate exons in place of the first exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC021649, AC117413, AK055115, AW274846
      Consensus CDS
      CCDS82869.1
      UniProtKB/Swiss-Prot
      Q5SGD2
      Related
      ENSP00000420746.1, ENST00000464260.5
      Conserved Domains (1) summary
      cd00143
      Location:12172
      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. NM_139245.4NP_640338.2  protein phosphatase 1L isoform 1

      See identical proteins and their annotated locations for NP_640338.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC021649, AW274846, AY337264
      Consensus CDS
      CCDS33886.1
      UniProtKB/Swiss-Prot
      Q2M3J2, Q5SGD2, Q96NM7
      Related
      ENSP00000417659.1, ENST00000498165.6
      Conserved Domains (1) summary
      cd00143
      Location:93351
      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 ...

    RNA

    1. NR_134243.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses two alternate exons in place of the first exon and contains an alternate 3' exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC021649, AW274846, BC090872

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      160756231..161078902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512440.4XP_011510742.1  protein phosphatase 1L isoform X1

      Conserved Domains (1) summary
      cl00120
      Location:93192
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      163530851..163853639
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345338.1XP_054201313.1  protein phosphatase 1L isoform X1

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