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

    Gene ID: 10295, updated on 3-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 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. 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
    4. 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
    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
    		Compare labs

    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)

    Genotypes

    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 cellular amino acid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phosphorylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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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