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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; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: PDHA1
Protein SuperFamily: pyruvate dehydrogenase (lipoamide) alpha chain
Gene Tree: Pdha1

Human
homologs
PDHA1, pyruvate dehydrogenase (lipoamide) alpha 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5160
neXtProt AC: NX_P08559

Human Synonyms: PDHA, PDHAD, PDHCE1A, PHE1A

Human Chr (Location): Xp22.1; chrX:19343893-19361707 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PDHA1

Mutations,
alleles, and
phenotypes
All mutations/alleles(30) : Gene trapped(24) Spontaneous(1) Targeted(5)
Genomic Mutations involving Pdha1 (1)
 
Mice homozygous for a knock-out allele die by E12.5.
 
Interactions
Pdha1 interacts with 211 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Expression
Literature Summary: (10 records)
Data Summary: Results (163)    Tissues (151)    Images (16)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 20
RNA in situ 129
RT-PCR 14
cDNA source data(335)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pdha1 ; ZFIN pdha1b    NEW 
Molecular
reagents
All nucleic(342) Genomic(1) cDNA(336) Primer pair(4) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000019453 (Evidence)
Ensembl Gene Model ENSMUSG00000031299 (Evidence)
Entrez Gene 18597 (Evidence)
UniGene 34775
DFCI TC1573113
DoTS DT.102559007, DT.111022330, DT.496805, DT.97414918
NIA Mouse Gene Index U039829
EC 1.2.4.1
Consensus CDS Project CCDS41195.1
International Mouse Phenotyping Consortium Status Pdha1
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(67)
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
05/20/2015
MGI 5.22
The Jackson Laboratory