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DBT dihydrolipoamide branched chain transacylase E2 [ Homo sapiens (human) ]

Gene ID: 1629, updated on 14-Apr-2018
Official Symbol
DBTprovided by HGNC
Official Full Name
dihydrolipoamide branched chain transacylase E2provided by HGNC
Primary source
HGNC:HGNC:2698
See related
Ensembl:ENSG00000137992 MIM:248610; Vega:OTTHUMG00000010921
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
E2; E2B; BCATE2; BCKADE2; BCKAD-E2; BCOADC-E2
Summary
The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 5.8), thyroid (RPKM 4.4) and 25 other tissues See more
Orthologs
Location:
1p21.2
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (100186922..100249864, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100652478..100715409, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene major facilitator superfamily domain containing 14A Neighboring gene SAS-6 centriolar assembly protein Neighboring gene tRNA methyltransferase 13 homolog Neighboring gene leucine rich repeat containing 39 Neighboring gene ribosomal protein L23a pseudogene 90 Neighboring gene brain protein I3 pseudogene 1 Neighboring gene RTCA antisense RNA 1 Neighboring gene RNA 3'-terminal phosphate cyclase Neighboring gene microRNA 553

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC9061

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity IEA
Inferred from Electronic Annotation
more info
 
lipoic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acyl-CoA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
 
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
mitochondrial alpha-ketoglutarate dehydrogenase complex TAS
Traceable Author Statement
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
Preferred Names
lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
Names
52 kDa mitochondrial autoantigen of primary biliary cirrhosis
BCKAD E2 subunit
E2 component of branched chain alpha-keto acid dehydrogenase complex
branched chain 2-oxo-acid dehydrogenase complex component E2
branched chain acyltransferase, E2 component
branched-chain alpha-keto acid dehydrogenase complex component E2
dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex
dihydrolipoyl transacylase
dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex
mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b)
NP_001909.3
XP_005270602.1
XP_016855957.1
XP_016855958.1

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_011852.2 RefSeqGene

    Range
    5001..67932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001918.3NP_001909.3  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001909.3

    Status: REVIEWED

    Source sequence(s)
    AK024946, AL445928, BC016675, DA274670
    Consensus CDS
    CCDS767.1
    UniProtKB/Swiss-Prot
    P11182
    Related
    ENSP00000359151.3, OTTHUMP00000012596, ENST00000370132.8, OTTHUMT00000030101
    Conserved Domains (1) summary
    cl27351
    Location:67482
    E3_binding; e3 binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    100186922..100249864 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270545.4XP_005270602.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005270602.1

    Conserved Domains (3) summary
    PRK11857
    Location:2293
    PRK11857; dihydrolipoamide acetyltransferase; Reviewed
    pfam00198
    Location:86298
    2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
    pfam02817
    Location:224
    E3_binding; e3 binding domain
  2. XM_017000468.2XP_016855957.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform X1

    Conserved Domains (3) summary
    PRK11857
    Location:2293
    PRK11857; dihydrolipoamide acetyltransferase; Reviewed
    pfam00198
    Location:86298
    2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
    pfam02817
    Location:224
    E3_binding; e3 binding domain
  3. XM_017000469.2XP_016855958.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform X1

    Conserved Domains (3) summary
    PRK11857
    Location:2293
    PRK11857; dihydrolipoamide acetyltransferase; Reviewed
    pfam00198
    Location:86298
    2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
    pfam02817
    Location:224
    E3_binding; e3 binding domain

RNA

  1. XR_946560.3 RNA Sequence

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