Gene

pdhb

ID
ZDB-GENE-040426-2173
Name
pyruvate dehydrogenase E1 subunit beta
Symbol
pdhb Nomenclature History
Previous Names
  • nir (1)
  • noir (1)
  • wu:fc76a05
  • zgc:64062 (1)
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Predicted to enable pyruvate dehydrogenase (acetyl-transferring) activity. Acts upstream of or within pigmentation. Predicted to be located in mitochondrion. Predicted to be part of pyruvate dehydrogenase complex. Is expressed in alar plate midbrain region; musculature system; optic tectum; optic vesicle; and pronephric duct. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human PDHB (pyruvate dehydrogenase E1 subunit beta).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
6 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
10 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa3153Allele with one point mutationUnknownPremature StopENU
sa12405Allele with one point mutationUnknownSplice SiteENU
tc22Allele with one point mutationUnknownPremature StopENU
tp89Allele with one point mutationUnknownMissenseENU
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Sequence Targeting Reagents
No data available
Human 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
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Associated With pdhb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR005475 Transketolase-like, pyrimidine-binding domain
Domain IPR033248 Transketolase, C-terminal domain
Family IPR027110 Pyruvate dehydrogenase E1 component subunit beta, mitochondrial-type
Homologous_superfamily IPR009014 Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II
Homologous_superfamily IPR029061 Thiamin diphosphate-binding fold
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Domain Details Per Protein
Protein Additional Resources Length Pyruvate dehydrogenase E1 component subunit beta, mitochondrial-type Thiamin diphosphate-binding fold Transketolase, C-terminal domain Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II Transketolase-like, pyrimidine-binding domain
UniProtKB:Q7T368 InterPro 359
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 22
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA pdhb-201 (1) Ensembl 1,421 nt
mRNA pdhb-202 (1) Ensembl 880 nt
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Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-pdhb monoclonal IgG1 , k Mouse
  • WB
Abcam plc
2
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Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEYP-87E7ZFIN Curated Data
EncodesESTfc76a05ZFIN Curated Data
EncodesESTIMAGE:6895600Thisse et al., 2004
EncodescDNAMGC:64062ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanPDHB3
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
MousePdhb14
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
1 - 10 of 15
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