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

13 figures from 6 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:6895726 (11 images)

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
Family	IPR050642	Pyruvate Dehydrogenase E1 Alpha Subunit
Homologous_superfamily	IPR029061	Thiamin diphosphate-binding fold