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. Acts upstream of or within acetyl-CoA biosynthetic process from pyruvate and detection of light stimulus involved in visual perception. Predicted to be part of 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

Comparative Information

Expression

All Expression Data

3 figures from Baxendale et al., 2009

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression 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

Human Disease	Fish	Conditions	Citations
lactic acidosis	dlat^a13/a13 (AB)	standard conditions	Taylor et al., 2004
pyruvate decarboxylase deficiency	dlat^a13/a13 (AB)	standard conditions	Taylor et al., 2004
pyruvate decarboxylase deficiency	dlat^m631/m631	standard conditions	Ferriero et al., 2013

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
Family	IPR045257	Dihydrolipoamide acetyltransferase/Pyruvate dehydrogenase protein X component
Homologous_superfamily	IPR011053	Single hybrid motif
Homologous_superfamily	IPR023213	Chloramphenicol acetyltransferase-like domain superfamily
Homologous_superfamily	IPR036625	E3-binding domain superfamily