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 located in mitochondrial matrix. 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