ZFIN ID: ZDB-GENE-030131-2921
Gene Name: dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)
Gene Symbol: dlat    Nomenclature History

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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)

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(Including Attributions)
Gene 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 the mitochondrial matrix and pyruvate dehydrogenase complex. Used to study lactic acidosis and pyruvate decarboxylase deficiency. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Is expressed in several structures, including adaxial cell; ectoderm; head; immature eye; and pronephric duct. Orthologous to human DLAT (dihydrolipoamide S-acetyltransferase).
Genome Resources: Alliance (1),  Gene:324201 (1),  Ensembl(GRCz11):ENSDARG00000015918 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
a13 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • m631 Point Mutation Unknown Missense ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa37305 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa37306 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • 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
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process acetyl-CoA biosynthetic process from pyruvate (more)
    Cellular Component mitochondrial matrix (more)
    Molecular Function CONTRIBUTES_TO   pyruvate dehydrogenase activity (more)
    GO Terms (all 11)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR000089 Biotin/lipoyl attachment
    Domain IPR001078 2-oxoacid dehydrogenase acyltransferase, catalytic domain
    Binding_site IPR003016 2-oxo acid dehydrogenase, lipoyl-binding site
    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
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA dlat-201 (1)    Ensembl 3382
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM dlat No data available
    MARKER RELATIONSHIPS
    dlat Contained in: [BAC] CH73-285B21 (1), DKEYP-14B8 (1)
    dlat Contains: [SNP] rs3729104 (1), rs3729105 (1)
    dlat Encodes: [EST] fc14f10, fc21f08, fc86g11, fj57d06
    [cDNA] MGC:194568 (1), MGC:194582 (1)
    dlat Has Artifact: [cDNA] MGC:111854 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_212667 (1) 1959 bp
    Genomic GenBank:BX296544 (1) 168838 bp
    Select Tool
    Polypeptide UniProtKB:B3DIV6 (1) 652 aa
    Sequence Information (all 22)
    ORTHOLOGY for dlat ( Chr: 21 )
    CITATIONS (36)