• Gene id: 57460

Gene Summary

• Gene Symbol: PPM1H   Gene   UCSC   Ensembl
• Aliases: ARHCL1, NERPP-2C, URCC2
• Gene name: protein phosphatase, Mg2+/Mn2+ dependent 1H
• Alternate names: protein phosphatase 1H, neurite extension-related protein phosphatase related to PP2C, protein phosphatase 1H (PP2C domain containing), ras homolog gene family, member C like 1,
• Gene location: 12q14.1-q14.2 (62935149: 62643991)     Exons: 13     NC_000012.12
• OMIM: 613577

Protein Summary

• Protein general information: Q9ULR3  
  • Name: Protein phosphatase 1H (EC 3.1.3.16)
  • Length: 514  
  • Mass: 56448
• Sequence:

  MLTRVKSAVANFMGGIMAGSSGSEHGGGSCGGSDLPLRFPYGRPEFLGLSQDEVECSADHIARPILILKETRRLP
  WATGYAEVINAGKSTHNEDQASCEVLTVKKKAGAVTSTPNRNSSKRRSSLPNGEGLQLKENSESEGVSCHYWSLF
  DGHAGSGAAVVASRLLQHHITEQLQDIVDILKNSAVLPPTCLGEEPENTPANSRTLTRAASLRGGVGAPGSPSTP
  PTRFFTEKKIPHECLVIGALESAFKEMDLQIERERSSYNISGGCTALIVICLLGKLYVANAGDSRAIIIRNGEII
  PMSSEFTPETERQRLQYLAFMQPHLLGNEFTHLEFPRRVQRKELGKKMLYRDFNMTGWAYKTIEDEDLKFPLIYG
  EGKKARVMATIGVTRGLGDHDLKVHDSNIYIKPFLSSAPEVRIYDLSKYDHGSDDVLILATDGLWDVLSNEEVAE
  AITQFLPNCDPDDPHRYTLAAQDLVMRARGVLKDRGWRISNDRLGSGDDISVYVIPLIHGNKLS

• Structural information:
  • Protein Domains: (77..50-)
    (/note="PPM-type-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01082"-)
  • Interpro: IPR015655  IPR036457  IPR001932  
  • Prosite: PS51746
  • CDD: cd00143
  • STRING: ENSP00000228705
• Other Databases: GeneCards:  PPM1H  Malacards:  PPM1H

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:0004741	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:1904184	positive regulation of pyruvate dehydrogenase activity	IBA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0004721	phosphoprotein phosphatase activity	IMP	molecular function
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004722	protein serine/threonine phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray