dlat dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: dlatprovided by ZNC
Official Full Name: dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-2921
See related: Ensembl:ENSDARG00000015918 AllianceGenome:ZFIN:ZDB-GENE-030131-2921
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: noa; nrb; wu:fc14f10; wu:fc21f08
Summary: 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 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). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 21

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	21	NC_007132.7 (23020540..23034865, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	21	NC_007132.6 (22983935..22998260, complement)

Chromosome 21 - NC_007132.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deficiency of dihydrolipoamide S-acetyltransferase (Dlat) results in neurological dysfunction, congenital lactic acidosis, growth retardation, and early death.
Title: A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet.

Submit: New GeneRIF Correction

General gene information

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Markers

fj57d06.x1 (e-PCR)
- UniSTS:188705

fc14f10.x1 (e-PCR)
- UniSTS:203813

fj91f07.y1 (e-PCR)
- UniSTS:200315

AI658322 (e-PCR)
- UniSTS:206071

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables dihydrolipoyllysine-residue acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables dihydrolipoyllysine-residue acetyltransferase activity	IEA Inferred from Electronic Annotation more info
contributes_to pyruvate dehydrogenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in acetyl-CoA biosynthetic process from pyruvate	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within acetyl-CoA biosynthetic process from pyruvate	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within acetyl-CoA biosynthetic process from pyruvate	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within detection of light stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within detection of light stimulus involved in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pyruvate metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within pyruvate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of pyruvate dehydrogenase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of pyruvate dehydrogenase complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial

Names: no optokinetic nystagmus a; no optokinetic response b

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_212667.2 → NP_997832.2 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial

Status: VALIDATED

Source sequence(s)

BX296544, CU694531

UniProtKB/TrEMBL

B3DIV6, B3DIX0, F6NRK1, Q804C3

Related

ENSDARP00000023098.6, ENSDART00000016502.8

Conserved Domains (2) summary

cl27351
Location:220 → 652

E3_binding; e3 binding domain

cl27364
Location:95 → 166

Transketolase_C; Transketolase, C-terminal domain