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. Is expressed in brain; gut; intestine; liver; and muscle. Used to study maple syrup urine disease. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human DBT (dihydrolipoamide branched chain transacylase E2).
Genome Resources
Note
None
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
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 Alliance Maple syrup urine disease, type II 248600
Associated With dbt Via Experimental Models
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:A0A2R8Q4A3 466
UniProtKB:A0A0R4INZ8 532
UniProtKB:Q5BKV3 493
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations