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

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpression of DBT suppresses the aggressiveness of renal clear cell carcinoma and correlates with immune infiltration.
Title: Overexpression of DBT suppresses the aggressiveness of renal clear cell carcinoma and correlates with immune infiltration.
Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.
Title: Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.
Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.
Title: Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.
The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved.
Title: Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan.
Deletion in DBT gene is associated with maple syrup urine disease.
Title: Molecular characterization of maple syrup urine disease patients from Tunisia.
4 novel mutations in DBT gene resulting in intermittent maple syrup urine disease in 7 Norwegian patients; pathogenic effect of the mutations is depletion of cellular protein; intermittent form of MSUD appears to be due to residual R301C mutant protein
Title: Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
In 37% (12 patients) of a total of 64 alleles, the supposed maple syrup urine disease-causing mutations in Turkish patients were located in the BCKDHA gene, in 44% (14 patients) in the BCKDHB gene and in 19% (6 patients) in the DBT gene.
Title: Molecular genetics of maple syrup urine disease in the Turkish population.
30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA, 5 in BCKDHB and 6 in DBT); 7 of are described for the first time.
Title: Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Examination of the deletion mutation in the E2 (DBT) gene facilitated early MSUD diagnosis and was beneficial for the determination of the proper course of treatment.
Title: Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

Go to the top of the page Help

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
Maple syrup urine disease type 2 MedGen: C1855371 OMIM: 620699 GeneReviews: Maple Syrup Urine Disease	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D11S2921 (e-PCR)
- UniSTS:152074

SGC31939 (e-PCR)
- UniSTS:99854

GDB:434012 (e-PCR)
- UniSTS:157204

RH39750 (e-PCR)
- UniSTS:91943

D1S1361 (e-PCR)
- UniSTS:149557

RH39768 (e-PCR)
- UniSTS:86842

L17709 (e-PCR)
- UniSTS:42599

SHGC-35260 (e-PCR)
- UniSTS:35952

D1S1423 (e-PCR)
- UniSTS:149619

D1S3592 (e-PCR)
- UniSTS:37772

L18441 (e-PCR)
- UniSTS:71348

L17971 (e-PCR)
- UniSTS:43966

SHGC-75206 (e-PCR)
- UniSTS:75975

Dbt (e-PCR), detects polymorphism
- UniSTS:142835

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acyltransferase activity, transferring groups other than amino-acyl groups	TAS Traceable Author Statement more info
contributes_to branched-chain alpha-keto acid dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity	IEA Inferred from Electronic Annotation more info
enables lipoic acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in branched-chain amino acid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in branched-chain amino acid catabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
part_of branched-chain alpha-ketoacid dehydrogenase complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in mitochondrial matrix	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
part_of oxoglutarate dehydrogenase complex	TAS Traceable Author Statement more info	PubMed

General protein information

Go to the top of the page Help

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

EC 2.3.1.168

NP_001386901.1

EC 2.3.1.168

NP_001909.4

EC 2.3.1.168

XP_016855957.1

EC 2.3.1.168

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

NG_011852.3 RefSeqGene

Range

5000..67915

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001399969.1 → NP_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
NM_001399972.1 → NP_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
NM_001918.5 → NP_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:67 → 482

PLN02528; 2-oxoisovalerate dehydrogenase E2 component

RNA

NR_174363.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL445928
NR_174364.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL445928
NR_174365.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL445928
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

100186919..100249834 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017000468.3 → XP_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:2 → 293

PRK11857; dihydrolipoamide acetyltransferase; Reviewed

pfam00198
Location:86 → 298

2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)

pfam02817
Location:2 → 24

E3_binding; e3 binding domain