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

Gene ID: 152926, updated on 7-Dec-2018

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
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; 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

Genomic context

See PPM1K in Genome Data Viewer
Location:
4q22.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (88257609..88284831, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (89178761..89205983, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily G member 2 (Junior blood group) Neighboring gene RNA, U6atac small nuclear 31, pseudogene Neighboring gene RNA, U6 small nuclear 1298, pseudogene Neighboring gene RNA, U6 small nuclear 112, pseudogene Neighboring gene PPM1K divergent transcript Neighboring gene uncharacterized LOC105377326

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

  • Branched-chain amino acid catabolism, organism-specific biosystem (from REACTOME)
    Branched-chain amino acid catabolism, organism-specific biosystemThe branched-chain amino acids, leucine, isoleucine, and valine, are all essential amino acids (i.e., ones required in the diet). They are major constituents of muscle protein. The breakdown of these...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35131, DKFZp667B084, DKFZp761G058

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium-dependent protein serine/threonine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine phosphatase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
 
positive regulation of pyruvate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
protein phosphatase 1K, mitochondrial
Names
PP2C domain-containing protein phosphatase 1K
PP2C-kappa
PP2C-type mitochondrial phosphoprotein phosphatase
branched-chain I+/--ketoacid dehydrogenase phosphatase
branched-chain alpha-ketoacid dehydrogenase phosphatase
protein phosphatase 2C kappa
NP_689755.3
XP_005262832.1
XP_006714174.1
XP_016863292.1
XP_016863293.1
XP_016863294.1
XP_016863295.1
XP_016863296.1

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.

Genomic

  1. NG_032931.1 RefSeqGene

    Range
    5001..32223
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152542.5NP_689755.3  protein phosphatase 1K, mitochondrial

    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
    Q8N3J5
    Related
    ENSP00000477341.1, ENST00000608933.5
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    88257609..88284831 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007804.2XP_016863293.1  protein phosphatase 1K, mitochondrial isoform X2

  2. XM_017007805.2XP_016863294.1  protein phosphatase 1K, mitochondrial isoform X3

  3. XM_006714111.4XP_006714174.1  protein phosphatase 1K, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006714174.1

    UniProtKB/Swiss-Prot
    Q8N3J5
    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 ...
  4. XM_017007803.2XP_016863292.1  protein phosphatase 1K, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q8N3J5
    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 ...
  5. XM_017007807.2XP_016863296.1  protein phosphatase 1K, mitochondrial isoform X4

  6. XM_017007806.2XP_016863295.1  protein phosphatase 1K, mitochondrial isoform X2

  7. XM_005262775.4XP_005262832.1  protein phosphatase 1K, mitochondrial isoform X5

    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 ...
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