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 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:19362011-19379825 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human PDHA1

Alleles and phenotypes

All alleles(60) : Targeted(5) Gene trapped(55)
 

Mice homozygous for a knock-out allele die by E12.5.

 

Gene Ontology (GO) classifications

All GO classifications: (18 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: (9 records)
Data Summary: Results (131)    Tissues (120)    Images (14)
Theiler Stages: 15, 19, 22, 23, 26, 28

Assay Type	Results
Immunohistochemistry	20
RNA in situ	97
RT-PCR	14

cDNA source data(337)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(344) Genomic(1) cDNA(338) 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 Knockout Project Status	Pdha1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000019453	VEGA Gene Model | MGI Sequence Detail	16205	C57BL/6J
transcript	OTTMUST00000046449	VEGA | MGI Sequence Detail	2848	Not Applicable
polypeptide	OTTMUSP00000020974	VEGA | MGI Sequence Detail	390	Not Applicable

All sequences(43) RefSeq(2) UniProt(2)

Polymorphisms

All PCR and RFLP(4) : PCR(1) RFLP(3) SNPs(82 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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