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

Gene ID: 10295, updated on 6-Jan-2019

Summary

Official Symbol
BCKDKprovided by HGNC
Official Full Name
branched chain ketoacid 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

Genomic context

See BCKDK in Genome Data Viewer
Location:
16p11.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (31108294..31117651)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31119615..31124112)

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Branched-chain keto acid dehydrogenase kinase deficiency
MedGen: C3554078 OMIM: 614923 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Branched-chain amino acid catabolism, organism-specific biosystem (from REACTOME)
    Branched-chain amino acid catabolism, organism-specific biosystemThe branched-chain amino acids, leucine, isoleucine, and valine, are all essential amino acids (i.e., ones required in the diet). They are major constituents of muscle protein. The breakdown of these...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity TAS
Traceable Author Statement
more info
 
kinase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
branched-chain amino acid catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
PubMed 
cellular amino acid catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphorylation TAS
Traceable Author Statement
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial alpha-ketoglutarate dehydrogenase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial alpha-ketoglutarate dehydrogenase complex TAS
Traceable Author Statement
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
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
NP_001116429.1
NP_001258855.1
NP_005872.2
XP_016878348.1

NCBI Reference Sequences (RefSeq)

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
    5001..9498
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001122957.2NP_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_001271926.1NP_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, ENST00000219794.10
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    31108294..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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