Reactome | H139Hfs13* PPM1K [mitochondrial matrix]

H139Hfs13* PPM1K [mitochondrial matrix]

Stable Identifier

R-HSA-9912515

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

Protein phosphatase 1K, mitochondrial ecNumber3.1.3.16/ecNumber, PPM1K_HUMAN

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Literature References

PubMed ID	Title	Journal	Year
23086801	A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease Oyarzabal, A, Martínez-Pardo, M, Merinero, B, Navarrete, R, Desviat, LR, Ugarte, M, Rodríguez-Pombo, P	Hum Mutat	2013

External Reference Information

External Reference

UniProt:Q8N3J5 PPM1K

Gene Names

PPM1K, PP2CM

Chain

transit peptide:1-29, chain:30-372

Reference Genes

BioGPS Gene:152926 PPM1K

COSMIC (genes):PPM1K PPM1K

CTD Gene:152926 PPM1K

dbSNP Gene:152926 PPM1K

ENSEMBL:ENSG00000163644 PPM1K

HGNC:25415 PPM1K

KEGG:hsa:152926 PPM1K

Monarch:152926 PPM1K

NCBI Gene:152926 PPM1K

OMIM:611065 PPM1K

UCSC:Q8N3J5 PPM1K

Reference Transcript

Other Identifiers

11727870_at

11727871_at

11760681_x_at

152926

16977892

226773_PM_at

226773_at

235061_PM_at

235061_at

242752_PM_at

242752_at

2777327

2777329

2777331

2777332

2777334

2777335

2777336

2777337

2777343

2777345

2777346

2777347

2777348

2777349

2777352

2777353

2777356

2777357

2777358

2777359

2777360

2777361

2777362

2777363

2777364

2777365

2777366

2777367

2777368

2777371

2777372

50124_at

52085_at

56110_at

70516_at

8101699

8101701

A_24_P162532

A_24_P214598

A_33_P3314356

GE86193

GE87833

GO:0003824

GO:0004721

GO:0004722

GO:0005515

GO:0005739

GO:0005759

GO:0006470

GO:0006520

GO:0007005

GO:0009083

GO:0016787

GO:0030145

GO:0043169

GO:0046872

GO:0047385

GO:0140096

GO:1902108

GO:1902531

HMNXSV003012337

HMNXSV003022890

HMNXSV003025835

Hs.291000.0.A1_3p_at

Hs.43273.0.A1_3p_at

Hs.43744.1.A1_3p_at

ILMN_2070043

ILMN_2070044

PH_hs_0003177

PH_hs_0015079

PH_hs_0039920

TC04001372.hg

TC04001373.hg

TC04002626.hg

Participates

as a component of

H139Hfs13* PPM1K:Mn2+ [mitochondrial matrix] (Homo sapiens)

Other forms of this molecule

PPM1K [mitochondrial matrix]

Modified Residues

Name

Replacement of residues 139 to 150 by HPMGEMYYGFAS

Disease

Name	Identifier	Synonyms
maple syrup urine disease	DOID:9269	dihydrolipoamide dehydrogenase deficiency

Cross References

RefSeq

XP_006714174.1, NP_689755.3, XP_016863292.1, XP_054205018.1, XP_054205019.1

ENSEMBL

ENSG00000163644, ENST00000608933, ENSP00000477341

OpenTargets

ENSG00000163644

Mondo

0009563

GeneCards

PPM1K

HPA

ENSG00000163644-PPM1K

PRO

Q8N3J5

Pharos - Targets

Q8N3J5

Orphanet

PPM1K

HMDB Protein

HMDBP08798

PDB

4DA1, 6AK7, 2IQ1

Interactors (3)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P11182 DBT	11	Lipo-K105-DBT [mitochondrial matrix] (R-HSA-70017) Isobutyryl-lipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859151) Isovaleryl-lipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859144) 2-Methylbutyryl-lipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859145) LipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859167) DBT [mitochondrial matrix] (R-HSA-6792584) P276C Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865046) S399C Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865036) K313_Y338del Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865051) I98M Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865057) DBT [cytosol] (R-HSA-9714663)	0.788	8
UniProt:Q13490 BIRC2	5	BIRC2 [cytosol] (R-HSA-50847) K48pUb-BIRC2 [cytosol] (R-HSA-5675479) BIRC2(373-618) [cytosol] (R-HSA-202931) BIRC2(1-372) [cytosol] (R-HSA-202913) K63polyUb-BIRC2 [cytosol] (R-HSA-5668512)	0.718	6
UniProt:P98170 XIAP	3	XIAP [cytosol] (R-HSA-50849) K48pUb-XIAP [cytosol] (R-HSA-5675477) XIAP [nucleoplasm] (R-HSA-3322366)	0.556	3