Gene

dlat

ID
ZDB-GENE-030131-2921
Name
dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)
Symbol
dlat Nomenclature History
Previous Names
  • fc86g11
  • fj57d06
  • no optokinetic nystagmus a
  • no optokinetic response b (1)
  • noa
  • nrb (1)
  • wu:fc14f10 (1)
  • wu:fc21f08 (1)
  • wu:fc86g11 (1)
  • wu:fj57d06 (1)
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Contributes to pyruvate dehydrogenase activity. Involved in acetyl-CoA biosynthetic process from pyruvate and detection of light stimulus involved in visual perception. Predicted to localize to mitochondrial pyruvate dehydrogenase complex. Is expressed in several structures, including adaxial cell; ectoderm; head; immature eye; and pronephric duct. Used to study lactic acidosis and pyruvate decarboxylase deficiency. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human DLAT (dihydrolipoamide S-acetyltransferase).
Genome Resources
Note
None
Expression
All Expression Data
3 figures from Baxendale et al., 2009
Cross-Species Comparison
High Throughput Data
No data available
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 dlat Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
pyruvate decarboxylase deficiency Alliance Pyruvate dehydrogenase E2 deficiency 245348
Associated With dlat 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
Family IPR006257 Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex
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 Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex E3-binding domain superfamily Peripheral subunit-binding domain Single hybrid motif
UniProtKB:Q804C3 652
UniProtKB:B3DIV6 652
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