Gene

dbt

ID

ZDB-GENE-050320-85

Name

dihydrolipoamide branched chain transacylase E2

Symbol

dbt Nomenclature History

Previous Names

im:7147214
que
zgc:103768

Type

protein_coding_gene

Location

Chr: 22 Mapping Details/Browsers

Description

Predicted to have acetyltransferase activity and lipoic acid binding activity. Involved in branched-chain amino acid metabolic process. Predicted to localize to mitochondrion. Used to study maple syrup urine disease. Human ortholog(s) of this gene implicated in maple syrup urine disease. Is expressed in brain; gut; intestine; liver; and muscle. Orthologous to human DBT (dihydrolipoamide branched chain transacylase E2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:7147214 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 7 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With dbt Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Maple syrup urine disease, type II	620699

Associated With dbt Via Experimental Models

Human Disease	Fish	Conditions	Citations
maple syrup urine disease	dbt^ti274/ti274	standard conditions	Friedrich et al., 2012

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Binding_site	IPR003016	2-oxo acid dehydrogenase, lipoyl-binding site
Domain	IPR000089	Biotin/lipoyl attachment
Domain	IPR001078	2-oxoacid dehydrogenase acyltransferase, catalytic domain
Domain	IPR004167	Peripheral subunit-binding domain
Homologous_superfamily	IPR011053	Single hybrid motif
Homologous_superfamily	IPR023213	Chloramphenicol acetyltransferase-like domain superfamily
Homologous_superfamily	IPR036625	E3-binding domain superfamily

Domain Details Per Protein

Protein	Length	2-oxoacid dehydrogenase acyltransferase, catalytic domain	2-oxo acid dehydrogenase, lipoyl-binding site	Biotin/lipoyl attachment	Chloramphenicol acetyltransferase-like domain superfamily	E3-binding domain superfamily	Peripheral subunit-binding domain	Single hybrid motif
UniProtKB:Q5BKV3 InterPro	493

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	dbt-202 (1) Ensembl	Havana	2374 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	dbt-002 (1) Ensembl	Havana	502 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations