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Gene Info

Gene Information For:Hs. PDHA1, Pyruvate dehydrogenase (lipoamide) alpha 1
Sequence ID:NM_001173454
NM_001173455
NM_000284
NM_001173456
RefSeqGene ID:NG_016781
Entrez Gene ID:5160
Ensembl ID:ENSG00000131828

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    adrenal cortex, b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, ear, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, placenta, pooled tissue, prostate, retina, salivary gland, skin, soft tissue, spleen, stem cell, stomach, synovium, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
LEIGHSYNDROME, X-LINKED 
PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY 

Cytogenetic Location (from UniGene)

Cytogenetic Location:Xp22.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:X: 19378874 - 19380975

 Exon Info From UCSC:
NM_001173454
NM_001173455
NM_000284
NM_001173456

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
2961286Full LengthBC002406pyruvate dehydrogenase (lipoamide) alpha 1

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000275  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000284 NP_000275 P08559 EC 1.2.4.1 E1_dh
NM_001173454 NP_001166925      
NM_001173455 NP_001166926      
NM_001173456 NP_001166927      

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
M24848 AAA36533 P08559 EC 1.2.4.1
J03575 AAA60050 P08559 EC 1.2.4.1
J03503 AAA60055 P08559 EC 1.2.4.1
L13318 AAA60227 P08559 EC 1.2.4.1
L48690 AAB59581 P08559 EC 1.2.4.1
BC002406 AAH02406 P08559 EC 1.2.4.1
DQ891865 ABM82791    
DQ895054 ABM85980    
DQ895057 ABM85983    
EF576990 ABQ58815 A5YPB6  
EF590117 ABQ59099 P08559 EC 1.2.4.1
AK222740 BAD96460 P08559 EC 1.2.4.1
AK222988 BAD96708 Q53GE3  
AK312263 BAG35194 B2R5P7  
AK293250 BAH11476 P08559 EC 1.2.4.1
AK296341 BAH12323 P08559 EC 1.2.4.1
AK296457 BAH12361 P08559 EC 1.2.4.1
X52709 CAA36933 P08559 EC 1.2.4.1
X52710 CAA36934 P08559 EC 1.2.4.1

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens PDHA1 NP_001166926 M.musculus Pdha1 18597 Gene Info NP_032836 98
R.norvegicus Pdha1 29554   NP_001004072 98
D.melanogaster l(1)G0334 31406   NP_572181 59
A.gambiae AgaP_AGAP003030 1272922   XP_311846 57
A.thaliana E1 ALPHA 842284   NP_176198 56
A.thaliana IAR4 839031   NP_173828 51

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

BioCarta Pathways
Pathway information courtesy of BioCarta