ZFIN ID: ZDB-GENE-040426-2173
Gene Name: pyruvate dehydrogenase E1 subunit beta
Gene Symbol: pdhb    Nomenclature History

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Previous Names: nir (1), noir (1), wu:fc76a05, zgc:64062 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 22 Mapping Details/Browsers
Description: Exhibits pyruvate dehydrogenase activity. Involved in pigmentation. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Is expressed in alar plate midbrain region; musculature system; optic tectum; optic vesicle; and pronephric duct. Orthologous to human PDHB (pyruvate dehydrogenase E1 beta subunit).
Genome Resources: Alliance (1),  Gene:406428 (1),  Ensembl(GRCz11):ENSDARG00000021346 (2)
GENE EXPRESSION
All Expression Data: 6 figures from 2 publications
Directly Submitted Expression Data: 4 figures (6 images) from Thisse et al., 2004 [MGC:64062]
  1 figure (1 image) from Thisse et al., 2004 [IMAGE:6895600]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Larval:Days 7-13 (168.0h-14d, 4.5mm, 8 teeth)
 
Curated Microarray Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa3153 Point Mutation Unknown Premature Stop ENU
sa12405 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • tc22 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • tp89 Point Mutation Unknown Missense ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • DISEASE ASSOCIATED WITH pdhb HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    pyruvate decarboxylase deficiency Alliance Pyruvate dehydrogenase E1-beta deficiency 614111
    DISEASE ASSOCIATED WITH pdhb VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process pigmentation (more)
    Cellular Component mitochondrial pyruvate dehydrogenase complex (more)
    Molecular Function pyruvate dehydrogenase activity (more)
    GO Terms (all 8)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR005475 Transketolase-like, pyrimidine-binding domain
    Homologous_superfamily IPR009014 Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II
    Family IPR027110 Pyruvate dehydrogenase E1 component subunit beta
    Homologous_superfamily IPR029061 Thiamin diphosphate-binding fold
    Domain IPR033248 Transketolase, C-terminal domain
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA pdhb-201 (1)    Ensembl 1421
    pdhb-202 (1)    Ensembl 880
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-pdhb monoclonal IgG1 , k Mouse WB Abcam plc
    2
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM pdhb No data available
    MARKER RELATIONSHIPS
    pdhb Contained in: [BAC] DKEYP-87E7 (1)
    pdhb Encodes: [EST] fc76a05 (1), IMAGE:6895600 (1)
    [cDNA] MGC:64062 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_213154 (1) 1429 bp
    Genomic GenBank:BX649457 (1) 159207 bp
    Select Tool
    Polypeptide UniProtKB:Q7T368 (1) 359 aa
    Sequence Information (all 13)
    ORTHOLOGY for pdhb ( Chr: 22 )
    CITATIONS (38)