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PPM1E protein phosphatase, Mg2+/Mn2+ dependent 1E [ Homo sapiens (human) ]

Gene ID: 22843, updated on 17-Nov-2018

Summary

Official Symbol
PPM1Eprovided by HGNC
Official Full Name
protein phosphatase, Mg2+/Mn2+ dependent 1Eprovided by HGNC
Primary source
HGNC:HGNC:19322
See related
Ensembl:ENSG00000175175 Vega:OTTHUMG00000179248
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
POPX1; PP2CH; caMKN; CaMKP-N
Summary
This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
Expression
Biased expression in brain (RPKM 6.5), testis (RPKM 3.8) and 3 other tissues See more
Orthologs

Genomic context

See PPM1E in Genome Data Viewer
Location:
17q22
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (58755869..58985617)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56833230..57062540)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene testis expressed 14, intercellular bridge forming factor Neighboring gene RNA, U1 small nuclear 85, pseudogene Neighboring gene uncharacterized LOC105371843 Neighboring gene RAD51 paralog C Neighboring gene RNA, U6 small nuclear 518, pseudogene Neighboring gene ribosomal protein S12 pseudogene 30 Neighboring gene tripartite motif containing 37 Neighboring gene RNA, 7SL, cytoplasmic 716, pseudogene Neighboring gene RNA, U2 small nuclear 58, pseudogene Neighboring gene spindle and kinetochore associated complex subunit 2

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.
NHGRI GWA Catalog
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
NHGRI GWA Catalog
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1072, DKFZp781F1422

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular response to drug IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-threonine dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of stress fiber assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein phosphatase 1E
Names
ca(2+)/calmodulin-dependent protein kinase phosphatase N
caMKP-nucleus
nuclear calmodulin-dependent protein kinase phosphatase
partner of PIX 1
partner of PIX-alpha
partner of PIXA
protein phosphatase 1E (PP2C domain containing)
NP_055721.3
XP_016879848.1
XP_024306425.1

NCBI Reference Sequences (RefSeq)

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_014906.4NP_055721.3  protein phosphatase 1E

    See identical proteins and their annotated locations for NP_055721.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and is protein-coding.
    Source sequence(s)
    AC100832, AK289966
    Consensus CDS
    CCDS11613.1
    UniProtKB/TrEMBL
    A7E2X1
    Related
    ENSP00000312411.2, OTTHUMP00000261004, ENST00000308249.3, OTTHUMT00000445458
    Conserved Domains (1) summary
    cd00143
    Location:230488
    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_048561.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC100832, AK289966, BC143845

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    58755869..58985617
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450657.1XP_024306425.1  protein phosphatase 1E isoform X1

    Conserved Domains (1) summary
    cd00143
    Location:1249
    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_017024359.1XP_016879848.1  protein phosphatase 1E isoform X1

    Conserved Domains (1) summary
    cd00143
    Location:1249
    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 ...
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