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BckdhB Branched chain keto acid dehydrogenase E1 subunit beta [ Drosophila melanogaster (fruit fly) ]

Gene ID: 3355069, updated on 18-Sep-2024

Summary

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Official Symbol
BckdhBprovided by FlyBase
Official Full Name
Branched chain keto acid dehydrogenase E1 subunit betaprovided by FlyBase
Primary source
FLYBASE:FBgn0039993
Locus tag
Dmel_CG17691
See related
AllianceGenome:FB:FBgn0039993
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Drosophila melanogaster
Lineage
Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as
bckdhB; CG17691; Dmel\CG17691
Summary
Predicted to contribute to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity. Predicted to be involved in branched-chain amino acid catabolic process and response to nutrient. Predicted to be located in mitochondrion. Predicted to be part of mitochondrial alpha-ketoglutarate dehydrogenase complex. Is expressed in adult head and adult heart. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

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See BckdhB in Genome Data Viewer
Location:
41A1-41A1; 2-55 cM
Exon count:
6
Annotation release Status Assembly Chr Location
Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2R NT_033778.4 (1590484..1596457)

Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene long non-coding RNA:CR44043 Neighboring gene lethal (2) 41Ab Neighboring gene Maf1 Neighboring gene pseudo Neighboring gene uncharacterized protein

Genomic regions, transcripts, and products

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Genomic Sequence:
NT_033778.4 Chromosome 2R Reference Release 6 plus ISO1 MT Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Cytogenetic and molecular characterization of heterochromatin gene models in Drosophila melanogaster. Rossi F, et al. Genetics, 2007 Feb. PMID 17110485, Free PMC Article
  2. Drosophila as a diet discovery tool for treating amino acid disorders. Mele S, et al. Trends Endocrinol Metab, 2023 Feb. PMID 36567227
  3. Comparative Genomic Analyses Provide New Insights into the Evolutionary Dynamics of Heterochromatin in Drosophila. Caizzi R, et al. PLoS Genet, 2016 Aug. PMID 27513559, Free PMC Article
  4. The Insect Prothoracic Gland as a Model for Steroid Hormone Biosynthesis and Regulation. Ou Q, et al. Cell Rep, 2016 Jun 28. PMID 27320926, Free PMC Article
  5. Molecular and comparative genetics of mental retardation. Inlow JK, et al. Genetics, 2004 Feb. PMID 15020472, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

  • Annotated by Drosophila Heterochromatin Genome Project, Lawrence Berkeley National Lab, http://www.dhgp.org

Gene Ontology Provided by FlyBase

Function Evidence Code Pubs
contributes_to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity ISS
Inferred from Sequence or Structural Similarity
more info
  
contributes_to branched-chain alpha-keto acid dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in branched-chain amino acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in branched-chain amino acid catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to nutrient IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of branched-chain alpha-ketoacid dehydrogenase complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of oxoglutarate dehydrogenase complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
branched chain keto acid dehydrogenase E1 subunit beta
Names
BckdhB-PC
BckdhB-PE
BckdhB-PF
CG17691-PC
CG17691-PE
CG17691-PF
branched-chain a-keto acid dehydrogenase

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

  1. NT_033778.4 Reference assembly

    Range
    1590484..1596457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001110548.2 → NP_001104018.1  branched chain keto acid dehydrogenase E1 subunit beta, isoform C [Drosophila melanogaster]

    See identical proteins and their annotated locations for NP_001104018.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    A8QHW9, Q7PLE6, Q8SZ03
    Conserved Domains (3) summary
    cd07036
    Location:48 → 213
    TPP_PYR_E1-PDHc-beta_like; Pyrimidine (PYR) binding domain of the beta subunits of the E1 components of human pyruvate dehydrogenase complex (E1- PDHc) and related proteins
    PTZ00182
    Location:10 → 362
    PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
    pfam02780
    Location:233 → 353
    Transketolase_C; Transketolase, C-terminal domain

  2. NM_001015354.4 → NP_001015354.3  branched chain keto acid dehydrogenase E1 subunit beta, isoform E [Drosophila melanogaster]

    See identical proteins and their annotated locations for NP_001015354.3

    Status: REVIEWED

    UniProtKB/TrEMBL
    A8QHW9, Q7PLE6, Q8SZ03
    Conserved Domains (3) summary
    cd07036
    Location:48 → 213
    TPP_PYR_E1-PDHc-beta_like; Pyrimidine (PYR) binding domain of the beta subunits of the E1 components of human pyruvate dehydrogenase complex (E1- PDHc) and related proteins
    PTZ00182
    Location:10 → 362
    PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
    pfam02780
    Location:233 → 353
    Transketolase_C; Transketolase, C-terminal domain

  3. NM_001110546.2 → NP_001104016.2  branched chain keto acid dehydrogenase E1 subunit beta, isoform F [Drosophila melanogaster]

    See identical proteins and their annotated locations for NP_001104016.2

    Status: REVIEWED

    UniProtKB/TrEMBL
    A8QHW8, L7S0L4
    Conserved Domains (1) summary
    cl11410
    Location:48 → 106
    TPP_enzyme_PYR; Pyrimidine (PYR) binding domain of thiamine pyrophosphate (TPP)-dependent enzymes
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A8QHW8 A8QHW8
Q7PLE6 Q7PLE6
Q8SZ03 Q8SZ03

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