PPM1K

Protein identityUniProt · HPA

UniProt accession

Q8N3J5

Gene

PPM1K

Ensembl

ENSG00000163644

Chromosome

4

Canonical length

372 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

372 residues, UniProt reviewed canonical sequence.

>Q8N3J5|PPM1K
     1  MSTAALITLV RSGGNQVRRR VLLSSRLLQD DRRVTPTCHS STSEPRCSRF DPDGSGSPAT
    61  WDNFGIWDNR IDEPILLPPS IKYGKPIPKI SLENVGCASQ IGKRKENEDR FDFAQLTDEV
   121  LYFAVYDGHG GPAAADFCHT HMEKCIMDLL PKEKNLETLL TLAFLEIDKA FSSHARLSAD
   181  ATLLTSGTTA TVALLRDGIE LVVASVGDSR AILCRKGKPM KLTIDHTPER KDEKERIKKC
   241  GGFVAWNSLG QPHVNGRLAM TRSIGDLDLK TSGVIAEPET KRIKLHHADD SFLVLTTDGI
   301  NFMVNSQEIC DFVNQCHDPN EAAHAVTEQA IQYGTEDNST AVVVPFGAWG KYKNSEINFS
   361  FSRSFASSGR WA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PPM1K can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

87 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PPM1K.

Disease | AllUniProt

Conditions PPM1K is implicated in, by any mechanism.

• Maple syrup urine disease, mild variant (MSUDMV) MIM:615135

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 150 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Maple syrup urine disease, mild variant

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.06

gnomAD pLI

0

gnomAD missense Z

1.29

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• branched-chain amino acid catabolic process
• regulation of intracellular signal transduction
• regulation of mitochondrial membrane permeability involved in apoptotic process

Molecular functions

• manganese ion binding
• protein serine/threonine phosphatase activity
• [3-methyl-2-oxobutanoate dehydrogenase (lipoamide)]-phosphatase activity

Cellular components

• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• PPM-type phosphatase, divalent cation binding
• PPM-type phosphatase-like domain
• Protein phosphatase 2C
• PPM-type phosphatase-like domain superfamily
• Protein phosphatase 2C

KeywordsUniProt

• Hydrolase
• Manganese
• Metal-binding
• Mitochondrion
• Phosphoprotein
• Protein phosphatase
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of PPM1K in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• E1
• BCKDHA