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Pdha1
Gene Detail
 Symbol
Name
ID
Pdha1
pyruvate dehydrogenase E1 alpha 1
MGI:97532
Synonyms Pdha-1
Feature Type protein coding gene
Genetic Map
Chromosome X
73.95 cM, cytoband F3-F4
Detailed Genetic Map ± 1 cM


Mapping data(24)
Sequence Map
ChrX:160122209-160138413 bp, - strand
From VEGA annotation of GRCm38

  16205 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:121491  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Protein SuperFamily: pyruvate dehydrogenase (lipoamide) alpha chain
Gene Tree: Pdha1

Human
homologs
Human Homolog PDHA1, pyruvate dehydrogenase (lipoamide) alpha 1
NCBI Gene ID 5160
neXtProt AC  NX_P08559
Human Synonyms  PDHA, PDHCE1A, PHE1A
Human Chr (Location)  Xp22.1; chrX:19343893-19361707 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human PDHA1
Alleles
and
phenotypes
All alleles(60) : Gene trapped(55) Targeted(5)
 
Mice homozygous for a knock-out allele die by E12.5.
 
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process acetyl-CoA biosynthetic process from pyruvate, carbohydrate metabolic process, ...
Component intracellular membrane-bounded organelle, mitochondrion, ...
Function oxidoreductase activity, oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor, ...
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (163)    Tissues (151)    Images (16)
Theiler Stages: 15, 19, 22, 23, 26, 28
Assay TypeResults
Immunohistochemistry 20
RNA in situ 129
RT-PCR 14
cDNA source data(335)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(342) Genomic(1) cDNA(336) Primer pair(4) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000019453 (Evidence)
Ensembl Gene ModelENSMUSG00000031299 (Evidence)
Entrez Gene18597 (Evidence)
UniGene34775
DFCITC1573113
DoTSDT.102559007, DT.111022330, DT.496805, DT.97414918
NIA Mouse Gene IndexU039829
EC1.2.4.1
Consensus CDS ProjectCCDS41195.1
International Mouse Knockout Project StatusPdha1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019453 VEGA Gene Model | MGI Sequence Detail 16205 C57BL/6J ±  kb
transcript OTTMUST00000046449 VEGA | MGI Sequence Detail 2848 Not Applicable 
polypeptide OTTMUSP00000020974 VEGA | MGI Sequence Detail 390 Not Applicable 

For the selected sequences
All sequences(41) RefSeq(2) UniProt(2)
Polymorphisms All PCR and RFLP(4) : PCR(1) RFLP(3) SNPs within 2kb(107 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001017 Dehydrogenase, E1 component
InterPro IPR017597 Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y
Protein Ontology PR:000012493 pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
References (Earliest) J:10821 Brown RM, et al., Pyruvate dehydrogenase E1 alpha subunit genes in the mouse: mapping and comparison with human homologs. Somat Cell Mol Genet. 1990 Sep;16(5):487-92
(Latest) J:185555 Mugford JW, et al., Failure of extra-embryonic progenitor maintenance in the absence of dosage compensation. Development. 2012 Jun;139(12):2130-8
All references(68)
Other
accession IDs
MGD-MRK-13218, MGD-MRK-13219

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory