Human Gene PDHA2 (ENST00000295266.6) from GENCODE V44
  Description: Homo sapiens pyruvate dehydrogenase E1 subunit alpha 2 (PDHA2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005390)
Gencode Transcript: ENST00000295266.6
Gencode Gene: ENSG00000163114.6
Transcript (Including UTRs)
   Position: hg38 chr4:95,840,093-95,841,464 Size: 1,372 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg38 chr4:95,840,151-95,841,317 Size: 1,167 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:95,840,093-95,841,464)mRNA (may differ from genome)Protein (388 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ODPAT_HUMAN
DESCRIPTION: RecName: Full=Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial; EC=1.2.4.1; AltName: Full=PDHE1-A type II; Flags: Precursor;
FUNCTION: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It contains multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3).
CATALYTIC ACTIVITY: Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine = [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2).
COFACTOR: Thiamine pyrophosphate.
ENZYME REGULATION: E1 activity is regulated by phosphorylation (inactivation) and dephosphorylation (activation) of the alpha subunit.
SUBUNIT: Tetramer of 2 alpha and 2 beta subunits.
SUBCELLULAR LOCATION: Mitochondrion matrix.
TISSUE SPECIFICITY: Testis. Expressed in postmeiotic spermatogenic cells.
SEQUENCE CAUTION: Sequence=AAH94760.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 61.82 RPKM in Testis
Total median expression: 61.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.7058-0.288 Picture PostScript Text
3' UTR -22.80147-0.155 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001017 - DH_E1
IPR017597 - Pyrv_DH_E1_asu_subgrp-y

Pfam Domains:
PF00676 - Dehydrogenase E1 component

ModBase Predicted Comparative 3D Structure on P29803
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologGenome BrowserNo orthologGenome Browser
     Gene Details
     Gene Sorter
   Ensembl SGD
   Protein Sequence Protein Sequence
   Alignment Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004739 pyruvate dehydrogenase (acetyl-transferring) activity
GO:0016491 oxidoreductase activity
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor
GO:0034604 pyruvate dehydrogenase (NAD+) activity

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006006 glucose metabolic process
GO:0006086 acetyl-CoA biosynthetic process from pyruvate
GO:0006090 pyruvate metabolic process
GO:0006099 tricarboxylic acid cycle
GO:0008152 metabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0043231 intracellular membrane-bounded organelle
GO:0045254 pyruvate dehydrogenase complex


-  Descriptions from all associated GenBank mRNAs
  BC030697 - Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2, mRNA (cDNA clone MGC:26632 IMAGE:4824350), complete cds.
BC094760 - Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2, mRNA (cDNA clone IMAGE:4837212), partial cds.
BC066953 - Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2, mRNA (cDNA clone MGC:87402 IMAGE:5273609), complete cds.
BC119656 - Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2, mRNA (cDNA clone MGC:149517 IMAGE:40115940), complete cds.
BC119657 - Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2, mRNA (cDNA clone MGC:149518 IMAGE:40115941), complete cds.
BC127637 - Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2, mRNA (cDNA clone MGC:157671 IMAGE:40115943), complete cds.
BC127638 - Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2, mRNA (cDNA clone MGC:157672 IMAGE:40115944), complete cds.
AK313872 - Homo sapiens cDNA, FLJ94505, Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.
KJ905850 - Synthetic construct Homo sapiens clone ccsbBroadEn_15520 PDHA2 gene, encodes complete protein.
DQ575650 - Homo sapiens piRNA piR-43762, complete sequence.
DQ571710 - Homo sapiens piRNA piR-31822, complete sequence.
JD249007 - Sequence 230031 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00010 - Glycolysis / Gluconeogenesis
hsa00020 - Citrate cycle (TCA cycle)
hsa00290 - Valine, leucine and isoleucine biosynthesis
hsa00620 - Pyruvate metabolism
hsa00650 - Butanoate metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle
PYRUVDEHYD-PWY - pyruvate decarboxylation to acetyl CoA

Reactome (by CSHL, EBI, and GO)

Protein P29803 (Reactome details) participates in the following event(s):

R-HSA-203946 PDK isoforms phosphorylate lipo-PDH
R-HSA-204169 PDP dephosphorylates p-lipo-PDH
R-HSA-6792572 LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs
R-HSA-71397 lipo-PDH decarboxylates PYR to Ac-CoA
R-HSA-204174 Regulation of pyruvate dehydrogenase (PDH) complex
R-HSA-5362517 Signaling by Retinoic Acid
R-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-70268 Pyruvate metabolism
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle
R-HSA-162582 Signal Transduction
R-HSA-1430728 Metabolism
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport

-  Other Names for This Gene
  Alternate Gene Symbols: B2R9Q3, ENST00000295266.1, ENST00000295266.2, ENST00000295266.3, ENST00000295266.4, ENST00000295266.5, NM_005390, ODPAT_HUMAN, P29803, PDHAL, Q0VDI5, Q4VC02, Q6NXQ1, uc003htr.1, uc003htr.2, uc003htr.3, uc003htr.4, uc003htr.5, uc003htr.6
UCSC ID: ENST00000295266.6
RefSeq Accession: NM_005390
Protein: P29803 (aka ODPAT_HUMAN)
CCDS: CCDS3644.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.