Gene

pdha1a

ID
ZDB-GENE-040426-2719
Name
pyruvate dehydrogenase E1 subunit alpha 1a
Symbol
pdha1a Nomenclature History
Previous Names
  • pdha1
  • im:6895726
  • wu:fd18b01
  • wu:fo96f03
  • zgc:73271
  • zgc:86692
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Predicted to have pyruvate dehydrogenase (acetyl-transferring) activity. Predicted to be involved in acetyl-CoA biosynthetic process from pyruvate. Predicted to localize to mitochondrial pyruvate dehydrogenase complex. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Is expressed in several structures, including adaxial cell; alar plate midbrain region; heart tube; musculature system; and pronephric duct. Orthologous to several human genes including PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
11 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Sandoval et al., 2017
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pdha1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
pyruvate decarboxylase deficiency Alliance Pyruvate dehydrogenase E1-alpha deficiency 312170
Associated With pdha1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001017 Dehydrogenase, E1 component
Family IPR017597 Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y
Homologous_superfamily IPR029061 Thiamin diphosphate-binding fold
Domain Details Per Protein
Protein Length Dehydrogenase, E1 component Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y Thiamin diphosphate-binding fold
UniProtKB:A0A2R8QAA8 410
UniProtKB:A0A0R4IT09 400
UniProtKB:Q6P948 393
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations