Bckdha branched chain keto acid dehydrogenase E1 subunit alpha [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Bckdhaprovided by RGD
Official Full Name: branched chain keto acid dehydrogenase E1 subunit alphaprovided by RGD
Primary source: RGD:2196
See related: EnsemblRapid:ENSRNOG00000020607 AllianceGenome:RGD:2196
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: E1a; BCKDA
Summary: Predicted to enable metal ion binding activity and oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor. Predicted to contribute to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity and branched-chain alpha-keto acid dehydrogenase activity. Involved in response to cAMP; response to glucocorticoid; and response to nutrient. Predicted to be located in mitochondrion. Predicted to be part of branched-chain alpha-ketoacid dehydrogenase complex and oxoglutarate dehydrogenase complex. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Adrenal (RPKM 1002.9), Kidney (RPKM 697.8) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q21

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (90266731..90295521, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (81138946..81167765, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (82423291..82452094, complement)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of extramitochondrial BCKDH and its uncoupling from AMP deaminase in type 2 diabetic OLETF rat hearts.
Title: Downregulation of extramitochondrial BCKDH and its uncoupling from AMP deaminase in type 2 diabetic OLETF rat hearts.
It has been found that NaBut reduces proliferation rate of ERasBcl (E1A, cHa-ras and bcl-2 ) cells significantly weaker than of ERas transformed cells
Title: [Antiapoptotic gene bcl-2 prevents cellular senescence program reactivation induced by histone deacetylase inhibitor sodium butyrate in E1A and cHa-ras transformed rat fibroblasts].
Simvastatin stimulates liver BCKDH activity and BCAAs degradation in rats fed with the low protein diet.
Title: Simvastatin increases liver branched-chain α-ketoacid dehydrogenase activity in rats fed with low protein diet.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54154 (e-PCR)
- UniSTS:109391

D1Rat97 (e-PCR)
- UniSTS:118631

BE119497 (e-PCR)
- UniSTS:249200

D1Bda6 (e-PCR)
- UniSTS:240340

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	IEA Inferred from Electronic Annotation more info
contributes_to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	ISO Inferred from Sequence Orthology more info
enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	ISO Inferred from Sequence Orthology more info
contributes_to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	ISS Inferred from Sequence or Structural Similarity more info
enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	ISS Inferred from Sequence or Structural Similarity more info
enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	TAS Traceable Author Statement more info	PubMed
enables branched-chain alpha-keto acid dehydrogenase activity	IEA Inferred from Electronic Annotation more info
contributes_to branched-chain alpha-keto acid dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables branched-chain alpha-keto acid dehydrogenase activity	TAS Traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed

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	IEA Inferred from Electronic Annotation more info
involved_in branched-chain amino acid catabolic process	ISO Inferred from Sequence Orthology more info
involved_in branched-chain amino acid catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in branched-chain amino acid catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in response to cAMP	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to glucocorticoid	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to nutrient	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
part_of branched-chain alpha-ketoacid dehydrogenase complex	IEA Inferred from Electronic Annotation more info
part_of branched-chain alpha-ketoacid dehydrogenase complex	ISO Inferred from Sequence Orthology more info
part_of branched-chain alpha-ketoacid dehydrogenase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info	PubMed
part_of oxoglutarate dehydrogenase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

Names: BCKDE1A; BCKDH E1-alpha; branched chain alpha-ketoacid dehydrogenase subunit E1 alpha; branched chain keto acid dehydrogenase subunit E1, alpha polypeptide; branched chain ketoacid dehydrogenase E1, alpha polypeptide; branched-chain alpha-keto acid dehydrogenase E1 component alpha chain

NP_036914.1

EC 1.2.4.4

XP_017444303.1

EC 1.2.4.4

XP_038957453.1

EC 1.2.4.4

XP_063137592.1

EC 1.2.4.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_012782.1 → NP_036914.1 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

See identical proteins and their annotated locations for NP_036914.1

Status: VALIDATED

Source sequence(s)

BC089915, CB579195, J02827

UniProtKB/Swiss-Prot

P11960

UniProtKB/TrEMBL

B1WBN3

Related

ENSRNOP00000109641.1, ENSRNOT00000151777.1

Conserved Domains (1) summary

pfam00676
Location:107 → 407

E1_dh; Dehydrogenase E1 component

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086019.1 Reference GRCr8

Range

90266731..90295521 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039101525.2 → XP_038957453.1 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform X2

UniProtKB/Swiss-Prot

P11960

Conserved Domains (1) summary

cd02000
Location:106 → 329

TPP_E1_PDC_ADC_BCADC; Thiamine pyrophosphate (TPP) family, E1 of PDC_ADC_BCADC subfamily, TPP-binding module; composed of proteins similar to the E1 components of the human pyruvate dehydrogenase complex (PDC), the acetoin dehydrogenase complex (ADC) and the branched chain ...
XM_017588814.3 → XP_017444303.1 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform X1

UniProtKB/TrEMBL

A6J973
XM_063281522.1 → XP_063137592.1 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform X3