ZFIN is now using GRCz12tu for Genomic Data
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
Genome Assembly
GRCz12tu
Annotation Status
Current
Description
Predicted to enable dihydrolipoamide branched chain acyltransferase activity. Acts upstream of or within branched-chain amino acid metabolic process. Predicted to be located in cytosol and mitochondrial matrix. Predicted to be part of branched-chain alpha-ketoacid dehydrogenase complex. Predicted to be active in 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 type II. 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
Thisse Expression 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 type II Alliance Maple syrup urine disease, type II 620699
Associated With dbt Via Experimental Models
Human Disease Fish Conditions Citations
maple syrup urine disease dbtti274/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
Family IPR050743 2-oxoacid dehydrogenase family, E2 component
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 Additional Resources Length 2-oxoacid dehydrogenase acyltransferase, catalytic domain 2-oxoacid dehydrogenase family, E2 component 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 Has Havana Data Length (nt) Analysis
mRNA dbt-202 (1)
Ensembl
Ensembl 2,374 nt
ZFIN BLAST
ncRNA dbt-002 (1)
Ensembl
Ensembl 502 nt
ZFIN BLAST
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Genome Browsers
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations
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