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

Gene ID: 1629, updated on 10-Dec-2024

Summary

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; AllianceGenome:HGNC:2698
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; BCKDH-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
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Genomic context

See DBT in Genome Data Viewer
Location:
1p21.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (100186919..100249834, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (100035014..100097802, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100652475..100715390, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SAS-6 centriolar assembly protein Neighboring gene ReSE screen-validated silencer GRCh37_chr1:100578889-100579078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1373 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:100598108-100598271 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:100598267-100598869 Neighboring gene Sharpr-MPRA regulatory region 13340 Neighboring gene tRNA methyltransferase 13 homolog Neighboring gene leucine rich repeat containing 39 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:100665653-100666490 Neighboring gene ribosomal protein L23a pseudogene 90 Neighboring gene brain protein I3 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:100708816-100709049 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:100714559-100715118 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:100715119-100715678 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:100731463-100732012 Neighboring gene RTCA antisense RNA 1 Neighboring gene RNA 3'-terminal phosphate cyclase Neighboring gene microRNA 553

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC9061

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of branched-chain alpha-ketoacid dehydrogenase complex PubMed 
is_active_in cytoplasm  
located_in cytosol  
located_in microtubule cytoskeleton  
located_in mitochondrial matrix PubMed 
located_in mitochondrial matrix  
located_in mitochondrial nucleoid PubMed 
located_in mitochondrion PubMed 
is_active_in mitochondrion  
located_in mitochondrion  
part_of oxoglutarate dehydrogenase complex PubMed 

General protein information

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_001386898.1
NP_001386901.1
NP_001909.4
XP_016855957.1

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_011852.3 RefSeqGene

    Range
    5000..67915
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001399969.1NP_001386898.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL445928
    Consensus CDS
    CCDS91012.1
    UniProtKB/TrEMBL
    A0A7P0T9W1
    Related
    ENSP00000505780.1, ENST00000681780.1
  2. NM_001399972.1NP_001386901.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL445928
    Consensus CDS
    CCDS91012.1
    UniProtKB/TrEMBL
    A0A7P0T9W1
  3. NM_001918.5NP_001909.4  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AK024946, AL445928, BC016675, DA274670
    Consensus CDS
    CCDS767.1
    UniProtKB/Swiss-Prot
    B2R811, P11182, Q5VVL8
    UniProtKB/TrEMBL
    A0A7P0Z494
    Related
    ENSP00000359151.3, ENST00000370132.8
    Conserved Domains (1) summary
    PLN02528
    Location:67482
    PLN02528; 2-oxoisovalerate dehydrogenase E2 component

RNA

  1. NR_174363.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445928
  2. NR_174364.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445928
  3. NR_174365.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445928
  4. NR_174366.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445928

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    100186919..100249834 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000468.3XP_016855957.1  lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A7P0T9W1
    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_007095647.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    100035014..100097802 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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