UniProtKB - P29803 (ODPAT_HUMAN)
Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial
PDHA2
Functioni
The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO2, and thereby links the glycolytic pathway to the tricarboxylic cycle.
1 PublicationCatalytic activityi
- (R)-N6-lipoyl-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + H+ + pyruvate = (R)-N6-(S8-acetyldihydrolipoyl)-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + CO21 PublicationEC:1.2.4.11 Publication
Cofactori
Activity regulationi
GO - Molecular functioni
- pyruvate dehydrogenase (acetyl-transferring) activity Source: UniProtKB
- pyruvate dehydrogenase (NAD+) activity Source: Ensembl
GO - Biological processi
- acetyl-CoA biosynthetic process from pyruvate Source: GO_Central
- glucose metabolic process Source: UniProtKB-KW
- pyruvate metabolic process Source: UniProtKB
- tricarboxylic acid cycle Source: UniProtKB-KW
Keywordsi
Molecular function | Oxidoreductase |
Biological process | Carbohydrate metabolism, Glucose metabolism, Tricarboxylic acid cycle |
Ligand | Pyruvate, Thiamine pyrophosphate |
Enzyme and pathway databases
PathwayCommonsi | P29803 |
Reactomei | R-HSA-204174, Regulation of pyruvate dehydrogenase (PDH) complex R-HSA-389661, Glyoxylate metabolism and glycine degradation R-HSA-5362517, Signaling by Retinoic Acid R-HSA-70268, Pyruvate metabolism |
SignaLinki | P29803 |
SIGNORi | P29803 |
Names & Taxonomyi
Protein namesi | Recommended name: Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial (EC:1.2.4.1)Alternative name(s): PDHE1-A type II |
Gene namesi | Name:PDHA2 Synonyms:PDHAL |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8807, PDHA2 |
MIMi | 179061, gene |
neXtProti | NX_P29803 |
VEuPathDBi | HostDB:ENSG00000163114 |
Subcellular locationi
Mitochondrion
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: HPA
Nucleus
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 230 | S → A: Slightly reduces enzyme activity. 1 Publication | 1 | |
Mutagenesisi | 291 | S → A: Strongly reduces enzyme activity. Increases enzyme activity in stem cells. 2 Publications | 1 | |
Mutagenesisi | 291 | S → E or D: Abolishes enzyme activity. Increases neuronal cell death in response to glutamate excitotoxicity. 2 Publications | 1 | |
Mutagenesisi | 293 | S → A: Increases enzyme activity in stem cells. 1 Publication | 1 | |
Mutagenesisi | 293 | S → D: Abolishes enzyme activity. Increases neuronal cell death in response to glutamate excitotoxicity. 1 Publication | 1 | |
Mutagenesisi | 298 | S → A: Slightly reduces enzyme activity. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 5161 |
MalaCardsi | PDHA2 |
OpenTargetsi | ENSG00000163114 |
PharmGKBi | PA33151 |
Miscellaneous databases
Pharosi | P29803, Tbio |
Chemistry databases
DrugBanki | DB00157, NADH |
Genetic variation databases
BioMutai | PDHA2 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 27 | MitochondrionBy similarityAdd BLAST | 27 | |
ChainiPRO_0000020447 | 28 – 388 | Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrialAdd BLAST | 361 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 291 | Phosphoserine; by PDK1, PDK2, PDK3 and PDK42 Publications | 1 | |
Modified residuei | 293 | Phosphoserine1 Publication | 1 | |
Modified residuei | 298 | Phosphoserine; by PDK31 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P29803 |
jPOSTi | P29803 |
MassIVEi | P29803 |
MaxQBi | P29803 |
PaxDbi | P29803 |
PeptideAtlasi | P29803 |
PRIDEi | P29803 |
ProteomicsDBi | 54610 |
PTM databases
iPTMneti | P29803 |
PhosphoSitePlusi | P29803 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000163114, Expressed in testis and 28 other tissues |
Genevisiblei | P29803, HS |
Organism-specific databases
HPAi | ENSG00000163114, Tissue enriched (testis) |
Interactioni
Subunit structurei
Heterotetramer of two PDHA2 and two PDHB subunits. The heterotetramer interacts with DLAT, and is part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules.
1 PublicationBinary interactionsi
P29803
With | #Exp. | IntAct |
---|---|---|
MEOX2 [Q6FHY5] | 3 | EBI-2957428,EBI-16439278 |
Protein-protein interaction databases
BioGRIDi | 111187, 19 interactors |
ComplexPortali | CPX-6242, Mitochondrial pyruvate dehydrogenase complex, testis-specific variant |
IntActi | P29803, 9 interactors |
MINTi | P29803 |
STRINGi | 9606.ENSP00000295266 |
Miscellaneous databases
RNActi | P29803, protein |
Family & Domainsi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG0225, Eukaryota |
GeneTreei | ENSGT00530000063174 |
HOGENOMi | CLU_029393_5_2_1 |
InParanoidi | P29803 |
OMAi | FGMPGVT |
OrthoDBi | 871160at2759 |
PhylomeDBi | P29803 |
TreeFami | TF300742 |
Family and domain databases
InterProi | View protein in InterPro IPR001017, DH_E1 IPR017597, Pyrv_DH_E1_asu_subgrp-y IPR029061, THDP-binding |
Pfami | View protein in Pfam PF00676, E1_dh, 1 hit |
SUPFAMi | SSF52518, SSF52518, 1 hit |
TIGRFAMsi | TIGR03182, PDH_E1_alph_y, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
10 20 30 40 50
MLAAFISRVL RRVAQKSARR VLVASRNSSN DATFEIKKCD LYLLEEGPPV
60 70 80 90 100
TTVLTRAEGL KYYRMMLTVR RMELKADQLY KQKFIRGFCH LCDGQEACCV
110 120 130 140 150
GLEAGINPSD HVITSYRAHG VCYTRGLSVR SILAELTGRR GGCAKGKGGS
160 170 180 190 200
MHMYTKNFYG GNGIVGAQGP LGAGIALACK YKGNDEICLT LYGDGAANQG
210 220 230 240 250
QIAEAFNMAA LWKLPCVFIC ENNLYGMGTS TERAAASPDY YKRGNFIPGL
260 270 280 290 300
KVDGMDVLCV REATKFAANY CRSGKGPILM ELQTYRYHGH SMSDPGVSYR
310 320 330 340 350
TREEIQEVRS KRDPIIILQD RMVNSKLATV EELKEIGAEV RKEIDDAAQF
360 370 380
ATTDPEPHLE ELGHHIYSSD SSFEVRGANP WIKFKSVS
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 127 | L → P in AAH66953 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_034359 | 376 | R → G. Corresponds to variant dbSNP:rs17024795Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M86808 Genomic DNA Translation: AAA60232.1 AK313872 mRNA Translation: BAG36600.1 BC030697 mRNA Translation: AAH30697.3 BC066953 mRNA Translation: AAH66953.2 BC094760 mRNA Translation: AAH94760.1 Different initiation. BC119656 mRNA Translation: AAI19657.1 BC119657 mRNA Translation: AAI19658.1 BC127637 mRNA Translation: AAI27638.1 BC127638 mRNA Translation: AAI27639.1 |
CCDSi | CCDS3644.1 |
PIRi | A37104, DEHUPT |
RefSeqi | NP_005381.1, NM_005390.4 |
Genome annotation databases
Ensembli | ENST00000295266.6; ENSP00000295266.4; ENSG00000163114.6 |
GeneIDi | 5161 |
KEGGi | hsa:5161 |
MANE-Selecti | ENST00000295266.6; ENSP00000295266.4; NM_005390.5; NP_005381.1 |
UCSCi | uc003htr.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M86808 Genomic DNA Translation: AAA60232.1 AK313872 mRNA Translation: BAG36600.1 BC030697 mRNA Translation: AAH30697.3 BC066953 mRNA Translation: AAH66953.2 BC094760 mRNA Translation: AAH94760.1 Different initiation. BC119656 mRNA Translation: AAI19657.1 BC119657 mRNA Translation: AAI19658.1 BC127637 mRNA Translation: AAI27638.1 BC127638 mRNA Translation: AAI27639.1 |
CCDSi | CCDS3644.1 |
PIRi | A37104, DEHUPT |
RefSeqi | NP_005381.1, NM_005390.4 |
3D structure databases
AlphaFoldDBi | P29803 |
SMRi | P29803 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111187, 19 interactors |
ComplexPortali | CPX-6242, Mitochondrial pyruvate dehydrogenase complex, testis-specific variant |
IntActi | P29803, 9 interactors |
MINTi | P29803 |
STRINGi | 9606.ENSP00000295266 |
Chemistry databases
DrugBanki | DB00157, NADH |
PTM databases
iPTMneti | P29803 |
PhosphoSitePlusi | P29803 |
Genetic variation databases
BioMutai | PDHA2 |
Proteomic databases
EPDi | P29803 |
jPOSTi | P29803 |
MassIVEi | P29803 |
MaxQBi | P29803 |
PaxDbi | P29803 |
PeptideAtlasi | P29803 |
PRIDEi | P29803 |
ProteomicsDBi | 54610 |
Protocols and materials databases
Antibodypediai | 25781, 155 antibodies from 26 providers |
DNASUi | 5161 |
Genome annotation databases
Ensembli | ENST00000295266.6; ENSP00000295266.4; ENSG00000163114.6 |
GeneIDi | 5161 |
KEGGi | hsa:5161 |
MANE-Selecti | ENST00000295266.6; ENSP00000295266.4; NM_005390.5; NP_005381.1 |
UCSCi | uc003htr.5, human |
Organism-specific databases
CTDi | 5161 |
DisGeNETi | 5161 |
GeneCardsi | PDHA2 |
HGNCi | HGNC:8807, PDHA2 |
HPAi | ENSG00000163114, Tissue enriched (testis) |
MalaCardsi | PDHA2 |
MIMi | 179061, gene |
neXtProti | NX_P29803 |
OpenTargetsi | ENSG00000163114 |
PharmGKBi | PA33151 |
VEuPathDBi | HostDB:ENSG00000163114 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0225, Eukaryota |
GeneTreei | ENSGT00530000063174 |
HOGENOMi | CLU_029393_5_2_1 |
InParanoidi | P29803 |
OMAi | FGMPGVT |
OrthoDBi | 871160at2759 |
PhylomeDBi | P29803 |
TreeFami | TF300742 |
Enzyme and pathway databases
PathwayCommonsi | P29803 |
Reactomei | R-HSA-204174, Regulation of pyruvate dehydrogenase (PDH) complex R-HSA-389661, Glyoxylate metabolism and glycine degradation R-HSA-5362517, Signaling by Retinoic Acid R-HSA-70268, Pyruvate metabolism |
SignaLinki | P29803 |
SIGNORi | P29803 |
Miscellaneous databases
BioGRID-ORCSi | 5161, 13 hits in 1074 CRISPR screens |
ChiTaRSi | PDHA2, human |
GeneWikii | Pyruvate_dehydrogenase_(lipoamide)_alpha_2 |
GenomeRNAii | 5161 |
Pharosi | P29803, Tbio |
PROi | PR:P29803 |
RNActi | P29803, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163114, Expressed in testis and 28 other tissues |
Genevisiblei | P29803, HS |
Family and domain databases
InterProi | View protein in InterPro IPR001017, DH_E1 IPR017597, Pyrv_DH_E1_asu_subgrp-y IPR029061, THDP-binding |
Pfami | View protein in Pfam PF00676, E1_dh, 1 hit |
SUPFAMi | SSF52518, SSF52518, 1 hit |
TIGRFAMsi | TIGR03182, PDH_E1_alph_y, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ODPAT_HUMAN | |
Accessioni | P29803Primary (citable) accession number: P29803 Secondary accession number(s): B2R9Q3 Q6NXQ1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1993 |
Last sequence update: | April 1, 1993 | |
Last modified: | May 25, 2022 | |
This is version 188 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot