Bckdk branched chain ketoacid dehydrogenase kinase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bckdkprovided by MGI
Official Full Name: branched chain ketoacid dehydrogenase kinaseprovided by MGI
Primary source: MGI:MGI:1276121
See related: Ensembl:ENSMUSG00000030802 AllianceGenome:MGI:1276121
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables protein kinase activity. Predicted to be involved in several processes, including branched-chain amino acid catabolic process; regulation of glucose metabolic process; and spermatogenesis. Located in mitochondrion. Is expressed in several structures, including genitourinary system; heart; liver; lung; and skeletal muscle. Used to study autism spectrum disorder and branched-chain keto acid dehydrogenase kinase deficiency. Human ortholog(s) of this gene implicated in branched-chain keto acid dehydrogenase kinase deficiency. Orthologous to human BCKDK (branched chain keto acid dehydrogenase kinase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 49.2), mammary gland adult (RPKM 45.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7; 7 F3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (127503245..127508836)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (127904073..127909664)

Chromosome 7 - NC_000073.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BCKDK regulates the TCA cycle through PDC in the absence of PDK family during embryonic development.
Title: BCKDK regulates the TCA cycle through PDC in the absence of PDK family during embryonic development.
leucine supplementation increased the expression of enzymes (BCAT1, BCAT2 and BCKDK) that metabolize branched-chain amino acids.
Title: Oral leucine supplementation is sensed by the brain but neither reduces food intake nor induces an anorectic pattern of gene expression in the hypothalamus.
Results suggest that targeting mitochondrial BCKD kinase (BDK) as a pharmacological approach to mitigate the branched-chain amino acids (BCAAs) accumulation in metabolic diseases and heart failure.
Title: Structure-based design and mechanisms of allosteric inhibitors for mitochondrial branched-chain α-ketoacid dehydrogenase kinase.
branched-chain a-keto acid dehydrogenase complex kinase plays an important role in conserving branched-chain amino acids by limiting their oxidation
Title: Impaired growth and neurological abnormalities in branched-chain alpha-keto acid dehydrogenase kinase-deficient mice.
Tissue-specific translation of murine BCKDK mRNA is dependent upon an upstream open reading frame in the 5'-untranslated region
Title: Tissue-specific translation of murine branched-chain alpha-ketoacid dehydrogenase kinase mRNA is dependent upon an upstream open reading frame in the 5'-untranslated region.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (3) 1 citation
Targeted (3) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Bckdk (e-PCR), detects polymorphism
- UniSTS:141162

Bckdk (e-PCR), detects polymorphism
- UniSTS:527271

AI327402 (e-PCR)
- UniSTS:165558

Homology

Homologs of the Bckdk gene: The Bckdk gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, zebrafish, S.cerevisiae, K.lactis, E.gossypii, M.oryzae, N.crassa, and frog.
Orthologs from Annotation Pipeline: 425 organisms have orthologs with human gene Bckdk
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity	ISO Inferred from Sequence Orthology more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
enables pyruvate dehydrogenase (acetyl-transferring) kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity, transferring phosphorus-containing groups	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in branched-chain amino acid catabolic process	ISO Inferred from Sequence Orthology more info
involved_in isoleucine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in leucine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of glucose metabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in spermatogenesis	ISO Inferred from Sequence Orthology more info
involved_in valine catabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of mitochondrial alpha-ketoglutarate dehydrogenase complex	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial

Names: BCKD-kinase; BCKDHKIN; branched-chain alpha-ketoacid dehydrogenase kinase

NP_033869.1

EC 2.7.11.4

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_009739.3 → NP_033869.1 [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial precursor

See identical proteins and their annotated locations for NP_033869.1

Status: VALIDATED

Source sequence(s)

AK150607, BY077717

Consensus CDS

CCDS21884.1

UniProtKB/Swiss-Prot

O55028

UniProtKB/TrEMBL

A0A8C6I0Q9, Q3UCB5

Related

ENSMUSP00000070345.8, ENSMUST00000071056.14

Conserved Domains (3) summary

smart00387
Location:266 → 401

HATPase_c; Histidine kinase-like ATPases

COG0642
Location:154 → 400

BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]

pfam10436
Location:69 → 222

BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase