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BCKDK branched chain keto acid dehydrogenase kinase [ Homo sapiens (human) ]

Gene ID: 10295, updated on 14-Nov-2024

Summary

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Official Symbol
BCKDKprovided by HGNC
Official Full Name
branched chain keto acid dehydrogenase kinaseprovided by HGNC
Primary source
HGNC:HGNC:16902
See related
Ensembl:ENSG00000103507 MIM:614901; AllianceGenome:HGNC:16902
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BDK; BCKDKD
Summary
The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Expression
Ubiquitous expression in kidney (RPKM 12.8), heart (RPKM 12.4) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See BCKDK in Genome Data Viewer
Location:
16p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31108386..31117640)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31495847..31505117)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31119707..31124159)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31104343-31105051 Neighboring gene vitamin K epoxide reductase complex subunit 1 Neighboring gene zinc finger protein ENSP00000375192-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10748 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31117007-31117823 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31119431-31120324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31120325-31121217 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:31128803-31129029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10749 Neighboring gene lysine acetyltransferase 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31140425-31141372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31141373-31142320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31143269-31144214 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31145163-31146109 Neighboring gene serine protease 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Phosphorylation of BCKDK of BCAA catabolism at Y246 by Src promotes metastasis of colorectal cancer. Tian Q, et al. Oncogene, 2020 May. PMID 32238881, Free PMC Article
  2. BCKDK of BCAA Catabolism Cross-talking With the MAPK Pathway Promotes Tumorigenesis of Colorectal Cancer. Xue P, et al. EBioMedicine, 2017 Jun. PMID 28501528, Free PMC Article
  3. Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. García-Cazorla A, et al. Hum Mutat, 2014 Apr. PMID 24449431
  4. Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease. Harris RA, et al. Adv Enzyme Regul, 1990. PMID 2403034
  5. APN-mediated phosphorylation of BCKDK promotes hepatocellular carcinoma metastasis and proliferation via the ERK signaling pathway. Zhai M, et al. Cell Death Dis, 2020 May 26. PMID 32457292, Free PMC Article

See all (75) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cross-talk between BCKDK-mediated phosphorylation and STUB1-dependent ubiquitination degradation of BCAT1 promotes GBM progression.
    Title: Cross-talk between BCKDK-mediated phosphorylation and STUB1-dependent ubiquitination degradation of BCAT1 promotes GBM progression.
  2. BCKDK regulates breast cancer cell adhesion and tumor metastasis by inhibiting TRIM21 ubiquitinate talin1.
    Title: BCKDK regulates breast cancer cell adhesion and tumor metastasis by inhibiting TRIM21 ubiquitinate talin1.
  3. APN-mediated phosphorylation of BCKDK promotes hepatocellular carcinoma metastasis and proliferation via the ERK signaling pathway.
    Title: APN-mediated phosphorylation of BCKDK promotes hepatocellular carcinoma metastasis and proliferation via the ERK signaling pathway.
  4. Phosphorylation of BCKDK of BCAA catabolism at Y246 by Src promotes metastasis of colorectal cancer.
    Title: Phosphorylation of BCKDK of BCAA catabolism at Y246 by Src promotes metastasis of colorectal cancer.
  5. our study indicates that BCKDK promotes colorectal tumorigenesis through up-regulation of the MAPK signaling pathway by phosphorylating MEK at Ser221.
    Title: BCKDK of BCAA Catabolism Cross-talking With the MAPK Pathway Promotes Tumorigenesis of Colorectal Cancer.
  6. There is a relationship between plamsa CST and BCKDK in sepsis patients.
    Title: The plasma levels of CST and BCKDK in patients with sepsis.
  7. Results demonstrate that BCKDK mutations can result in neurobehavioral deficits in humans.
    Title: Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
  8. This publication is about the mouse gene but contains the 5' sequence of the human gene, including upstream open reading frame information.
    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.
  9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Branched-chain keto acid dehydrogenase kinase deficiency
MedGen: C3554078 OMIM: 614923 GeneReviews: Not available
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EBI GWAS Catalog

Description
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity TAS
Traceable Author Statement
more info
  
enables kinase activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein serine/threonine phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables pyruvate dehydrogenase (acetyl-transferring) kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in amino acid catabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
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 lipid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of amino acid metabolic process TAS
Traceable Author Statement
more info
  
involved_in regulation of acetyl-CoA biosynthetic process from pyruvate IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of glucose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HDA PubMed 
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion TAS
Traceable Author Statement
more info
 PubMed 
part_of oxoglutarate dehydrogenase complex ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of oxoglutarate dehydrogenase complex TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
branched-chain alpha-ketoacid dehydrogenase kinase
Names
BCKD-kinase
BCKDH kinase
BCKDHKIN
[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial
branched chain alpha-ketoacid dehydrogenase kinase
branched chain ketoacid dehydrogenase kinase
NP_001116429.1
NP_001258855.1
NP_005872.2
XP_016878348.1
XP_054235357.1

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.

Genomic

  1. NG_033011.2 RefSeqGene

    Range
    5002..9407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001122957.4 → NP_001116429.1  branched-chain alpha-ketoacid dehydrogenase kinase isoform b precursor

    See identical proteins and their annotated locations for NP_001116429.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) retains an intron in the 3' end of the coding sequence compared to variant 1. The resulting isoform (b) is shorter at the C-terminus compared to isoform a.
    Source sequence(s)
    AC135050, BC009872, BM679327, BX427330
    Consensus CDS
    CCDS45467.1
    UniProtKB/Swiss-Prot
    O14874
    Related
    ENSP00000378404.3, ENST00000394950.7
    Conserved Domains (3) summary
    smart00387
    Location:266 → 341
    HATPase_c; Histidine kinase-like ATPases
    COG0642
    Location:154 → 340
    BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]
    pfam10436
    Location:69 → 222
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

  2. NM_001271926.3 → NP_001258855.1  branched-chain alpha-ketoacid dehydrogenase kinase isoform c

    See identical proteins and their annotated locations for NP_001258855.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) retains an alternate exon in the 3' coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) is shorter at the C-terminus and lacks an alternate internal segment compared to isoform a.
    Source sequence(s)
    AC135050, BC009872, BM679327, BX427330
    Consensus CDS
    CCDS61917.1
    UniProtKB/Swiss-Prot
    O14874
    Related
    ENSP00000287507.3, ENST00000287507.7
    Conserved Domains (1) summary
    pfam10436
    Location:69 → 222
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

  3. NM_005881.4 → NP_005872.2  branched-chain alpha-ketoacid dehydrogenase kinase isoform a precursor

    See identical proteins and their annotated locations for NP_005872.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC135050, BC007363, BM679327, BX427330
    Consensus CDS
    CCDS10705.1
    UniProtKB/Swiss-Prot
    A8MY43, O14874, Q6FGL4, Q96G95, Q96IN5
    Related
    ENSP00000219794.6, ENST00000219794.11
    Conserved Domains (2) summary
    smart00387
    Location:266 → 401
    HATPase_c; Histidine kinase-like ATPases
    pfam10436
    Location:69 → 222
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    31108386..31117640
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022859.2 → XP_016878348.1  branched-chain alpha-ketoacid dehydrogenase kinase isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    31495847..31505117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379382.1 → XP_054235357.1  branched-chain alpha-ketoacid dehydrogenase kinase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14874.2 GenPept UniProtKB/Swiss-Prot:O14874

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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