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Gene: PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) Homo sapiens
Symbol: PDHA1
Name: pyruvate dehydrogenase E1 subunit alpha 1
Description: Exhibits pyruvate dehydrogenase (acetyl-transferring) activity. Involved in acetyl-CoA biosynthetic process from pyruvate. Localizes to the mitochondrion; nucleolus; and pyruvate dehydrogenase complex. Implicated in pyruvate decarboxylase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: PDHA; PDHAD; PDHCE1A; PDHE1-A type I; PHE1A; pyruvate dehydrogenase (lipoamide) alpha 1; pyruvate dehydrogenase alpha 1; pyruvate dehydrogenase complex, E1-alpha polypeptide 1; pyruvate dehydrogenase E1 alpha 1 subunit; pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; pyruvate dehydrogenase E1 subunit
Mus musculus (house mouse) : Pdha1 (pyruvate dehydrogenase E1 alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pdha1 (pyruvate dehydrogenase E1 subunit alpha 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pdha1 (pyruvate dehydrogenase E1 alpha 1 subunit)
Pan paniscus (bonobo/pygmy chimpanzee) : PDHA1 (pyruvate dehydrogenase E1 alpha 1 subunit)
Canis lupus familiaris (dog) : PDHA1 (pyruvate dehydrogenase E1 alpha 1 subunit)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pdha1 (pyruvate dehydrogenase E1 alpha 1 subunit)
Sus scrofa (pig) : PDHA1 (pyruvate dehydrogenase E1 alpha 1 subunit)
Chlorocebus sabaeus (green monkey) : PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1)
Heterocephalus glaber (naked mole-rat) : Pdha1 (pyruvate dehydrogenase E1 subunit alpha 1)
more info ...
Related Pseudogenes: PDHA1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38 EnsemblX19,343,893 - 19,361,718 (+)Ensembl
GRCh38X19,343,893 - 19,361,718 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X19,362,011 - 19,379,825 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X19,271,972 - 19,287,886 (+)NCBINCBI36hg18NCBI36
Build 34X19,121,707 - 19,137,622NCBI
CeleraX23,483,337 - 23,501,163 (+)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX17,111,170 - 17,129,001 (+)NCBIHuRef
CHM1_1X19,393,050 - 19,410,882 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on PDHA1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 736556
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.