ENSG00000163644


Homo sapiens

Features
Gene ID: ENSG00000163644
  
Biological name :PPM1K
  
Synonyms : PPM1K / protein phosphatase, Mg2+/Mn2+ dependent 1K / Q8N3J5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: q22.1
Gene start: 88257620
Gene end: 88284769
  
Corresponding Affymetrix probe sets: 226773_at (Human Genome U133 Plus 2.0 Array)   235061_at (Human Genome U133 Plus 2.0 Array)   240050_s_at (Human Genome U133 Plus 2.0 Array)   242752_at (Human Genome U133 Plus 2.0 Array)   244011_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000477241
Ensembl peptide - ENSP00000477211
Ensembl peptide - ENSP00000477341
Ensembl peptide - ENSP00000295908
Ensembl peptide - ENSP00000476452
Ensembl peptide - ENSP00000476789
Ensembl peptide - ENSP00000477051
NCBI entrez gene - 152926     See in Manteia.
OMIM - 611065
RefSeq - XM_017007807
RefSeq - NM_152542
RefSeq - XM_005262775
RefSeq - XM_006714111
RefSeq - XM_017007803
RefSeq - XM_017007804
RefSeq - XM_017007805
RefSeq - XM_017007806
RefSeq Peptide - NP_689755
swissprot - Q8N3J5
swissprot - A0A0A0MQZ4
swissprot - V9GYI6
swissprot - V9GYS8
swissprot - V9GYZ5
swissprot - V9GY69
Ensembl - ENSG00000163644
  
Related genetic diseases (OMIM): 615135 - ?Maple syrup urine disease, mild variant, 615135
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ppm1kENSDARG00000010655Danio rerio
 si:ch211-149b19.3ENSDARG00000076011Danio rerio
 PPM1KENSGALG00000011266Gallus gallus
 Ppm1kENSMUSG00000037826Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PPM1L / Q5SGD2 / protein phosphatase, Mg2+/Mn2+ dependent 1LENSG0000016359028
PPM1E / Q8WY54 / protein phosphatase, Mg2+/Mn2+ dependent 1EENSG0000017517528
PPM1F / P49593 / protein phosphatase, Mg2+/Mn2+ dependent 1FENSG0000010003428
ILKAP / Q9H0C8 / ILK associated serine/threonine phosphataseENSG0000013232324


Protein motifs (from Interpro)
Interpro ID Name
 IPR000222  PPM-type phosphatase, divalent cation binding
 IPR001932  PPM-type phosphatase domain
 IPR015655  Protein phosphatase 2C family
 IPR036457  PPM-type phosphatase domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006470 protein dephosphorylation IEA
 biological_processGO:0009083 branched-chain amino acid catabolic process TAS
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004721 phosphoprotein phosphatase activity IEA
 molecular_functionGO:0004722 protein serine/threonine phosphatase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0043169 cation binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Branched-chain amino acid catabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0008344 Elevated plasma branched chain amino acids 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000083123 BCKDHB / P21953 / branched chain keto acid dehydrogenase E1 subunit beta  / reaction
 ENSG00000137992 DBT / P11182 / dihydrolipoamide branched chain transacylase E2  / reaction
 ENSG00000248098 BCKDHA / P12694 / branched chain keto acid dehydrogenase E1, alpha polypeptide  / reaction
 ENSG00000091140 DLD / P09622 / dihydrolipoamide dehydrogenase  / reaction






 

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