bckdha branched chain keto acid dehydrogenase E1 subunit alpha [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: bckdhaprovided by ZNC
Official Full Name: branched chain keto acid dehydrogenase E1 subunit alphaprovided by ZNC
Primary source: ZFIN:ZDB-GENE-050522-376
See related: Ensembl:ENSDARG00000040555 AllianceGenome:ZFIN:ZDB-GENE-050522-376
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: wu:fd20d04; zgc:110049
Summary: Predicted to enable 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity. Predicted to be involved in branched-chain amino acid catabolic process. Predicted to be part of oxoglutarate dehydrogenase complex. Is expressed in liver and muscle. 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, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 18

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	18	NC_007129.7 (36066403..36081358)
105	previous assembly	GRCz10 (GCF_000002035.5)	18	NC_007129.6 (36085395..36100350)

Chromosome 18 - NC_007129.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	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

Process	Evidence Code	Pubs
involved_in branched-chain amino acid catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
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: branched chain keto acid dehydrogenase E1, alpha polypeptide

NP_001019590.1

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_001024419.1 → NP_001019590.1 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

See identical proteins and their annotated locations for NP_001019590.1

Status: PROVISIONAL

Source sequence(s)

BC095157

UniProtKB/TrEMBL

B2GQB8, Q4VBU0

Related

ENSDARP00000059346.4, ENSDART00000059347.5

Conserved Domains (2) summary

PLN02374
Location:22 → 414

PLN02374; pyruvate dehydrogenase (acetyl-transferring)

cd02000
Location:106 → 398

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 ...