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

Gene ID: 10295, updated on 8-Jul-2021

Summary

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
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
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Genomic context

See BCKDK in Genome Data Viewer
Location:
16p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (31108381..31117651)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31119707..31124159)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 646 Neighboring gene serine protease 53 Neighboring gene vitamin K epoxide reductase complex subunit 1 Neighboring gene lysine acetyltransferase 8 Neighboring gene serine protease 8

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Branched-chain keto acid dehydrogenase kinase deficiency
MedGen: C3554078 OMIM: 614923 GeneReviews: Not available
Compare labs
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables pyruvate dehydrogenase (acetyl-transferring) kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
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 cellular amino acid catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
involved_in isoleucine catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in leucine catabolic process IEA
Inferred from Electronic Annotation
more info
 
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 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 IEA
Inferred from Electronic Annotation
more info
 
involved_in valine catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of mitochondrial alpha-ketoglutarate dehydrogenase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of mitochondrial alpha-ketoglutarate dehydrogenase complex TAS
Traceable Author Statement
more info
PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in mitochondrion TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

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_033011.1 RefSeqGene

    Range
    5093..9498
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001122957.4NP_001116429.1  [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial 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:266341
    HATPase_c; Histidine kinase-like ATPases
    COG0642
    Location:154340
    BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]
    pfam10436
    Location:69222
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
  2. NM_001271926.3NP_001258855.1  [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial 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:69222
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
  3. NM_005881.4NP_005872.2  [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial 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
    O14874
    UniProtKB/TrEMBL
    A0A024QZA9
    Related
    ENSP00000219794.6, ENST00000219794.11
    Conserved Domains (2) summary
    smart00387
    Location:266401
    HATPase_c; Histidine kinase-like ATPases
    pfam10436
    Location:69222
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    31108381..31117651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022859.1XP_016878348.1  3-methyl-2-oxobutanoate dehydrogenase [lipoamide] kinase, mitochondrial isoform X1

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