• Gene id: 152926

Gene Summary

• Gene Symbol: PPM1K   Gene   UCSC   Ensembl
• Aliases: BDP, MSUDMV, PP2Ckappa, PP2Cm, PTMP, UG0882E07
• Gene name: protein phosphatase, Mg2+/Mn2+ dependent 1K
• Alternate names: protein phosphatase 1K, mitochondrial, PP2C domain-containing protein phosphatase 1K, PP2C-kappa, PP2C-type mitochondrial phosphoprotein phosphatase, branched-chain I+/--ketoacid dehydrogenase phosphatase, branched-chain alpha-ketoacid dehydrogenase phosphatas,
• Gene location: 4q22.1 (88284669: 88257616)     Exons: 11     NC_000004.12
• Gene summary(Entrez): 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 permea
• OMIM: 611065

Protein Summary

• Protein general information: Q8N3J5  
  • Name: Protein phosphatase 1K, mitochondrial (EC 3.1.3.16) (PP2C domain containing protein phosphatase 1K) (PP2C like mitochondrial protein) (PP2C type mitochondrial phosphoprotein phosphatase) (PTMP) (Protein phosphatase 2C isoform kappa) (PP2C kappa)
  • Length: 372  
  • Mass: 40997
• Sequence:

  MSTAALITLVRSGGNQVRRRVLLSSRLLQDDRRVTPTCHSSTSEPRCSRFDPDGSGSPATWDNFGIWDNRIDEPI
  LLPPSIKYGKPIPKISLENVGCASQIGKRKENEDRFDFAQLTDEVLYFAVYDGHGGPAAADFCHTHMEKCIMDLL
  PKEKNLETLLTLAFLEIDKAFSSHARLSADATLLTSGTTATVALLRDGIELVVASVGDSRAILCRKGKPMKLTID
  HTPERKDEKERIKKCGGFVAWNSLGQPHVNGRLAMTRSIGDLDLKTSGVIAEPETKRIKLHHADDSFLVLTTDGI
  NFMVNSQEICDFVNQCHDPNEAAHAVTEQAIQYGTEDNSTAVVVPFGAWGKYKNSEINFSFSRSFASSGRWA

• Structural information:
  • Protein Domains: (94..34-)
    (/note="PPM-type-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01082"-)
  • Interpro: IPR015655  IPR000222  IPR036457  IPR001932  
  • Prosite: PS01032 PS51746
  • CDD: cd00143
  • PDB: 2IQ1 4DA1 6AK7
  • PDBsum: 2IQ1 4DA1 6AK7
  • STRING: ENSP00000477341
• Other Databases: GeneCards:  PPM1K  Malacards:  PPM1K

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004724	magnesium-dependent protein serine/threonine phosphatase activity	IBA	molecular function
GO:0004722	protein serine/threonine phosphatase activity	IBA	molecular function
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0043169	cation binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004722	protein serine/threonine phosphatase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Maple syrup urine disease	KEGG:H00172
Maple syrup urine disease	KEGG:H00172
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq