About Gene List

PF3D7_0504600 (BCKDHB)

Genome location: Pf3D7_05_v3:177,390..179,177(+)

Genome classification: Core

Function and Localization

Product Description: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial, putative

SignalP Peptide: N/A

# Transmembrane Domains: 0

EC Numbers: 1.2.4.4 (3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring))

Curated GO (PlasmoDB):

Type GO Term Name
Component GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex
Component GO:0030062 mitochondrial tricarboxylic acid cycle enzyme complex
Component GO:0005739 mitochondrion
Function GO:0003863 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
Function GO:0003826 alpha-ketoacid dehydrogenase activity
Process GO:0009083 branched-chain amino acid catabolic process
Process GO:0007584 response to nutrient
Process GO:0006099 tricarboxylic acid cycle

Expression by stage (LR - Le Roch et al., and MCA - Malaria Cell Atlas):

Stage LR class MCA mean MCA prop. zeros
Sporozoite not expressed N/A N/A
Ring not expressed 0.01 1.00
Trophozoite expressed 0.06 0.96
Schizont expressed 0.14 0.89
Gametocyte expressed 0.14 0.91

More info:

Resistome Mutations

Old (Pf3D7v3) Gene ID: PF3D7_0504600

Resistome Missense Mutations: None

Resistome Compounds with Missense Mutations: None

Resistome # Samples with Disruptive Mutations: 0 (0 missense, 0 "interesting" missense)

Essentiality (ABS)

Zhang Phenotype: Non - Mutable in CDS *tentative

MIS: 0.999 | MFS: -1.662 | #Insertions: 0

PlasmoGEM Phenotype: Slow (Pb ortholog: PBANKA_1104200)

  • Relative Growth Rate: 0.61 ± 0.01
  • Confidence: 10.00

RMgmDB ABS Phenotype: Different from wild type (Pb ortholog: PBANKA_1104200)

Modification: Disrupted | RMgm-2940

More info: PhenoPlasm Link

Binding Evidence

AlphaFill Uniprot ID: Q8I0X1

"Best" AlphaFill ligand hit: COI (alpha-ketoisocaproic acid, Local RMSD=0.02) with 1UMD (Global RMSD=0.88)

BRENDA EC Inhibitors:

EC # Name EC Inhibitors
1.2.4.4 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) ATPNADHpyruvateClofibratemicroRNA 29amicroRNA 29b2-oxoglutarate2-oxobutanoate2-oxopentanoateisobutanoyl-CoAisopentanoyl-CoAcinnamylpyruvate...

No evidence of orthology to BindingDB entries

Orthology Information

Ortholog Group (OrthoMCL): OG6_101601

Most Similar Human Ortholog: P21953

TM-align score: 0.85 | RMSD: 1.06

Seq Identity: 0.60 | Length: 329 / 381

All Human Orthologs (OrthoMCL):

Gene ID Description
ENSG00000083123 branched chain keto acid dehydrogenase E1 subunit beta

Genetic Variation

MalariaGEN Pf7 (worldwide samples) # unique SNV/indels:

Homozygous genotype calls only

variant type common rare doubleton singleton
synonymous 2 22 11 23
disruptive 2 17 8 19
missense 2 17 7 18

Any inclusion in genotype call

variant type common rare doubleton singleton
synonymous 7 48 20 14
disruptive 5 33 19 41
missense 2 29 19 28

PlasmoDB Total SNPs: 71

Non-coding: 61 | Synonymous: 7 | Nonsynonymous: 3 | Stop Codon: 0

Protein Information

Protein Length: 381 | Molecular Weight (kDa): 43.032

UniProt ID(s): Q8I0X1

PDB ID(s): None

Isoelectric Point: 8.38

Protein Domain Annotations:

Source Family ID Description
InterPro IPR005475 Transketolase-like, pyrimidine-binding domain
InterPro IPR009014 Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II
InterPro IPR029061 Thiamin diphosphate-binding fold
InterPro IPR033248 Transketolase, C-terminal domain
PFam PF02779 Transketolase-like, pyrimidine-binding domain
PFam PF02780 Transketolase, C-terminal domain
Superfamily SSF52518 Thiamin diphosphate-binding fold
Superfamily SSF52922 Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II

Associated Publications

PMID Title Authors DOI/Link
12368867 Sequence of Plasmodium falciparum chromosomes 1, 3-9 and 13. Hall N, Pain A, ..., Barrell BG 10.1038/nature01095
34494883 A Prioritized and Validated Resource of Mitochondrial Proteins in PlasmodiumIdentifies Unique Biology. van Esveld SL, Meerstein-Kessel L, ..., Huynen MA 10.1128/mSphere.00614-21