Reactome | R174Gfs1* BCKDK [mitochondrial matrix]

R174Gfs1* BCKDK [mitochondrial matrix]

Stable Identifier

R-HSA-9912469

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial ecNumber2.7.11.4/ecNumber, BCKD_HUMAN

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Literature References

PubMed ID	Title	Journal	Year
24449431	Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients Sanz, P, Castejón, E, Nunes, V, Ruiz-Sala, P, Agulló, SB, Palacin, M, Vilaseca, MA, Robles, C, Rodríguez-Pombo, P, Ugarte, M, Lopez-Sala, A, Fort, J, Pristoupilova, A, Dopazo, J, Bodoy, S, Ormaizabal, A, Artuch, R, Garcia-Cazorla, A, Navarrete, R, Font-Llitjós, M, Alcaide, P, Merinero, B, Oyarzabal, A	Hum. Mutat.	2014

External Reference Information

External Reference

UniProt:O14874 BCKDK

Gene Names

BCKDK

Chain

transit peptide:1-30, chain:31-412

Reference Genes

BioGPS Gene:10295 BCKDK

COSMIC (genes):BCKDK BCKDK

CTD Gene:10295 BCKDK

dbSNP Gene:10295 BCKDK

ENSEMBL:ENSG00000103507 BCKDK

HGNC:16902 BCKDK

KEGG:hsa:10295 BCKDK

Monarch:10295 BCKDK

NCBI Gene:10295 BCKDK

OMIM:614901 BCKDK

UCSC:O14874 BCKDK

Reference Transcript

Other Identifiers

10295

11719705_a_at

11743293_a_at

11743294_x_at

11744767_x_at

16818165

202030_PM_at

202030_at

32828_at

3656830

3656831

3656832

3656833

3656834

3656835

3656836

3656837

3656838

3656839

3656840

3656841

3656842

3656843

3656844

3656845

3656846

3656847

3656848

3656849

3656850

3656851

3656852

3656853

3656854

7995040

A_14_P123905

A_23_P365149

A_23_P3823

GE54207

GO:0003824

GO:0004672

GO:0004674

GO:0004722

GO:0004740

GO:0005515

GO:0005524

GO:0005739

GO:0005759

GO:0006520

GO:0006629

GO:0008610

GO:0009063

GO:0009083

GO:0010906

GO:0016301

GO:0016310

GO:0016740

GO:0016772

GO:0016787

GO:0043226

GO:0045252

GO:0045763

GO:0047323

GO:0106310

GO:0140096

HMNXSV003033146

ILMN_1693394

PH_hs_0001785

TC16000370.hg

g5031608_3p_at

Participates

as a component of

R174Gfs1* BCKDK dimer [mitochondrial matrix] (Homo sapiens)

Other forms of this molecule

BCKDK [mitochondrial matrix]

R224P BCKDK [mitochondrial matrix]

L389P BCKDK [mitochondrial matrix]

R156* BCKDK [mitochondrial matrix]

Modified Residues

Name

Replacement of residues 174 to 174 by G

Disease

Name	Identifier	Synonyms
branched-chain keto acid dehydrogenase kinase deficiency	DOID:0090126	BCKDKD, BCKDK deficiency, autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Cross References

RefSeq

NP_001258855.1, NP_005872.2, NP_001116429.1

Guide to Pharmacology - Targets

1939

ClinGen

CA395657836

OpenTargets

ENSG00000103507

ENSEMBL

ENST00000219794, ENSP00000219794, ENST00000287507, ENSG00000103507, ENST00000394950, ENSP00000378404, ENST00000394951, ENSP00000378405, ENSP00000287507

PRO

O14874

GlyGen

O14874

PDB

8F5F, 8F5S, 8F5J

IntEnz

2.7.11.1

HPA

ENSG00000103507-BCKDK

GeneCards

BCKDK

Pharos - Targets

O14874

Orphanet

BCKDK

HMDB Protein

HMDBP01493

Interactors (3)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P41208 CETN2	3	CETN2 [cytosol] (R-HSA-380298) CETN2 [nucleoplasm] (R-HSA-4570490) polySUMO2,3-CETN2 [nucleoplasm] (R-HSA-4570486)	0.643	3
UniProt:O95395 GCNT3	1	GCNT3 [Golgi membrane] (R-HSA-914013)	0.527	4
UniProt:P40763 STAT3	12	p-Y705-STAT3 [nucleoplasm] (R-HSA-1112554) p-Y705-STAT3 [cytosol] (R-HSA-914048) STAT3 [cytosol] (R-HSA-539044) p-Y705-STAT3 [cytosol] (R-HSA-8983130) p-Y705-STAT3 [nucleoplasm] (R-HSA-9027589) p-S727-STAT3 [cytosol] (R-HSA-198705) p-Y705,S727-STAT3 [cytosol] (R-HSA-539048) p-Y705,S727-STAT3 [nucleoplasm] (R-HSA-9701429) AcK685- p-Y705,S727-STAT3 [nucleoplasm] (R-HSA-9701435) p-STAT3 [cytosol] (R-HSA-8982823) p-STAT3 [nucleoplasm] (R-HSA-8983188) Unfolded STAT3 [cytosol] (R-HSA-6813811)	0.508	2