UniProtKB - O00330 (ODPX_HUMAN)
Pyruvate dehydrogenase protein X component, mitochondrial
PDHX
Functioni
GO - Molecular functioni
- transferase activity, transferring acyl groups Source: InterPro
GO - Biological processi
- mitochondrial acetyl-CoA biosynthetic process from pyruvate Source: MGI
- pyruvate metabolic process Source: Reactome
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000110435-MONOMER |
PathwayCommonsi | O00330 |
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 |
SIGNORi | O00330 |
Names & Taxonomyi
Protein namesi | Recommended name: Pyruvate dehydrogenase protein X component, mitochondrialAlternative name(s): Dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex E3-binding protein Short name: E3BP Lipoyl-containing pyruvate dehydrogenase complex component X proX |
Gene namesi | Name:PDHX Synonyms:PDX1 |
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:21350, PDHX |
MIMi | 608769, gene |
neXtProti | NX_O00330 |
VEuPathDBi | HostDB:ENSG00000110435.11 |
Subcellular locationi
Mitochondrion
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: GO_Central
Other locations
- pyruvate dehydrogenase complex Source: UniProtKB
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Pyruvate dehydrogenase E3-binding protein deficiency (PDHXD)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 183 | R → A: Strongly decreased DLD binding. 1 Publication | 1 | |
Mutagenesisi | 185 | S → A: Strongly decreased DLD binding. 1 Publication | 1 | |
Mutagenesisi | 186 | P → A: Strongly decreased DLD binding. 1 Publication | 1 | |
Mutagenesisi | 187 | A → M: Strongly decreased DLD binding. 1 Publication | 1 | |
Mutagenesisi | 189 | R → A: Strongly decreased DLD binding. 1 Publication | 1 | |
Mutagenesisi | 190 | N → A: Decreased DLD binding. 2 Publications | 1 | |
Mutagenesisi | 190 | N → K: Moderately decreased interaction with DLD. 1 Publication | 1 | |
Mutagenesisi | 193 | E → A: Strongly decreased DLD binding. 1 Publication | 1 | |
Mutagenesisi | 208 | R → A: Strongly decreased DLD binding. 1 Publication | 1 | |
Mutagenesisi | 208 | R → D: Decreased interaction with DLD. 1 Publication | 1 | |
Mutagenesisi | 210 | I → A: Strongly decreased DLD binding. 1 Publication | 1 | |
Mutagenesisi | 210 | I → R: Decreased interaction with DLD. 1 Publication | 1 | |
Mutagenesisi | 210 | I → S: Decreased interaction with DLD. 1 Publication | 1 | |
Mutagenesisi | 213 | K → A: Strongly decreased DLD binding. 1 Publication | 1 | |
Mutagenesisi | 214 | E → A: Strongly decreased DLD binding. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 8050 |
MalaCardsi | PDHX |
MIMi | 245349, phenotype |
OpenTargetsi | ENSG00000110435 |
Orphaneti | 255182, Pyruvate dehydrogenase E3-binding protein deficiency |
PharmGKBi | PA134976445 |
Miscellaneous databases
Pharosi | O00330, Tbio |
Genetic variation databases
BioMutai | PDHX |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 53 | MitochondrionBy similarityAdd BLAST | 53 | |
ChainiPRO_0000020484 | 54 – 501 | Pyruvate dehydrogenase protein X component, mitochondrialAdd BLAST | 448 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 97 | N6-lipoyllysinePROSITE-ProRule annotation1 Publication | 1 | |
Modified residuei | 194 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 196 | PhosphoserineCombined sources | 1 | |
Modified residuei | 394 | N6-succinyllysineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | O00330 |
jPOSTi | O00330 |
MassIVEi | O00330 |
MaxQBi | O00330 |
PaxDbi | O00330 |
PeptideAtlasi | O00330 |
PRIDEi | O00330 |
ProteomicsDBi | 19121 19268 47851 [O00330-1] |
PTM databases
iPTMneti | O00330 |
PhosphoSitePlusi | O00330 |
SwissPalmi | O00330 |
Expressioni
Gene expression databases
Bgeei | ENSG00000110435, Expressed in skeletal muscle tissue and 244 other tissues |
ExpressionAtlasi | O00330, baseline and differential |
Genevisiblei | O00330, HS |
Organism-specific databases
HPAi | ENSG00000110435, Tissue enhanced (skeletal) |
Interactioni
Subunit structurei
Part of the inner core of the multimeric pyruvate dehydrogenase complex that is composed of about 48 DLAT and 12 PDHX molecules (PubMed:14638692, PubMed:20361979). This core binds multiple copies of pyruvate dehydrogenase (subunits PDH1A and PDHB, E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3) (PubMed:14638692).
Interacts with SIRT4 (PubMed:25525879).
Interacts with DLD (PubMed:20385101, PubMed:16263718, PubMed:16442803, PubMed:20160912, PubMed:20361979).
7 PublicationsBinary interactionsi
Hide detailsO00330
With | #Exp. | IntAct |
---|---|---|
AGTRAP [Q6RW13] | 5 | EBI-751566,EBI-741181 |
CIDEB [Q9UHD4] | 3 | EBI-751566,EBI-7062247 |
DLD [P09622] | 7 | EBI-751566,EBI-353366 |
SIRT4 [Q9Y6E7] | 4 | EBI-751566,EBI-2606540 |
Protein-protein interaction databases
BioGRIDi | 113737, 51 interactors |
DIPi | DIP-29026N |
IntActi | O00330, 24 interactors |
MINTi | O00330 |
STRINGi | 9606.ENSP00000227868 |
Miscellaneous databases
RNActi | O00330, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O00330 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | O00330 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 56 – 132 | Lipoyl-bindingPROSITE-ProRule annotationAdd BLAST | 77 | |
Domaini | 183 – 220 | Peripheral subunit-binding (PSBD)PROSITE-ProRule annotationAdd BLAST | 38 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 149 – 170 | Pro-richAdd BLAST | 22 |
Sequence similaritiesi
Keywords - Domaini
Lipoyl, Transit peptidePhylogenomic databases
eggNOGi | KOG0557, Eukaryota |
GeneTreei | ENSGT00940000156046 |
HOGENOMi | CLU_016733_10_2_1 |
InParanoidi | O00330 |
OMAi | NAVWAGD |
OrthoDBi | 747232at2759 |
PhylomeDBi | O00330 |
TreeFami | TF332256 |
Family and domain databases
Gene3Di | 3.30.559.10, 1 hit 4.10.320.10, 1 hit |
InterProi | View protein in InterPro IPR003016, 2-oxoA_DH_lipoyl-BS IPR001078, 2-oxoacid_DH_actylTfrase IPR000089, Biotin_lipoyl IPR023213, CAT-like_dom_sf IPR036625, E3-bd_dom_sf IPR004167, PSBD IPR011053, Single_hybrid_motif |
Pfami | View protein in Pfam PF00198, 2-oxoacid_dh, 1 hit PF00364, Biotin_lipoyl, 1 hit PF02817, E3_binding, 1 hit |
SUPFAMi | SSF47005, SSF47005, 1 hit SSF51230, SSF51230, 1 hit |
PROSITEi | View protein in PROSITE PS50968, BIOTINYL_LIPOYL, 1 hit PS00189, LIPOYL, 1 hit PS51826, PSBD, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAASWRLGCD PRLLRYLVGF PGRRSVGLVK GALGWSVSRG ANWRWFHSTQ
60 70 80 90 100
WLRGDPIKIL MPSLSPTMEE GNIVKWLKKE GEAVSAGDAL CEIETDKAVV
110 120 130 140 150
TLDASDDGIL AKIVVEEGSK NIRLGSLIGL IVEEGEDWKH VEIPKDVGPP
160 170 180 190 200
PPVSKPSEPR PSPEPQISIP VKKEHIPGTL RFRLSPAARN ILEKHSLDAS
210 220 230 240 250
QGTATGPRGI FTKEDALKLV QLKQTGKITE SRPTPAPTAT PTAPSPLQAT
260 270 280 290 300
AGPSYPRPVI PPVSTPGQPN AVGTFTEIPA SNIRRVIAKR LTESKSTVPH
310 320 330 340 350
AYATADCDLG AVLKVRQDLV KDDIKVSVND FIIKAAAVTL KQMPDVNVSW
360 370 380 390 400
DGEGPKQLPF IDISVAVATD KGLLTPIIKD AAAKGIQEIA DSVKALSKKA
410 420 430 440 450
RDGKLLPEEY QGGSFSISNL GMFGIDEFTA VINPPQACIL AVGRFRPVLK
460 470 480 490 500
LTEDEEGNAK LQQRQLITVT MSSDSRVVDD ELATRFLKSF KANLENPIRL
A
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PLU0 | E9PLU0_HUMAN | Pyruvate dehydrogenase protein X co... | PDHX | 151 | Annotation score: | ||
E9PRI6 | E9PRI6_HUMAN | Pyruvate dehydrogenase protein X co... | PDHX | 182 | Annotation score: | ||
H0YD97 | H0YD97_HUMAN | Pyruvate dehydrogenase protein X co... | PDHX | 189 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 41 | A → R in AAC39661 (PubMed:9467010).Curated | 1 | |
Sequence conflicti | 251 | A → S in AAB66315 (PubMed:9242632).Curated | 1 | |
Sequence conflicti | 251 | A → S in CAA73606 (PubMed:9399911).Curated | 1 | |
Sequence conflicti | 344 | P → S in BAG62924 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_046619 | 23 | R → C1 PublicationCorresponds to variant dbSNP:rs1049306EnsemblClinVar. | 1 | |
Natural variantiVAR_046620 | 101 | T → A. Corresponds to variant dbSNP:rs11539202EnsemblClinVar. | 1 | |
Natural variantiVAR_046621 | 370 | D → V1 PublicationCorresponds to variant dbSNP:rs17850649Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_053817 | 2 – 53 | AASWR…TQWLR → QSGGAEGSPGAGRTGRGPGS GKAPPAEISSGAPDFPG in isoform 3. CuratedAdd BLAST | 52 | |
Alternative sequenceiVSP_045271 | 115 – 341 | Missing in isoform 2. CuratedAdd BLAST | 227 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF001437 mRNA Translation: AAB66315.1 Y13145 mRNA Translation: CAA73606.1 U82328 mRNA Translation: AAC39661.1 AJ298105 Genomic DNA Translation: CAC18649.1 AK301384 mRNA Translation: BAG62924.1 AC107928 Genomic DNA No translation available. AL138810 Genomic DNA No translation available. AL356215 Genomic DNA No translation available. CH471064 Genomic DNA Translation: EAW68158.1 CH471064 Genomic DNA Translation: EAW68160.1 BC010389 mRNA Translation: AAH10389.1 U79296 mRNA Translation: AAB50223.1 |
CCDSi | CCDS44569.1 [O00330-3] CCDS53616.1 [O00330-2] CCDS7896.1 [O00330-1] |
RefSeqi | NP_001128496.1, NM_001135024.1 [O00330-3] NP_001159630.1, NM_001166158.1 [O00330-2] NP_003468.2, NM_003477.2 [O00330-1] |
Genome annotation databases
Ensembli | ENST00000227868; ENSP00000227868; ENSG00000110435 [O00330-1] ENST00000430469; ENSP00000415695; ENSG00000110435 [O00330-2] ENST00000448838; ENSP00000389404; ENSG00000110435 [O00330-3] |
GeneIDi | 8050 |
KEGGi | hsa:8050 |
UCSCi | uc001mvt.4, human [O00330-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF001437 mRNA Translation: AAB66315.1 Y13145 mRNA Translation: CAA73606.1 U82328 mRNA Translation: AAC39661.1 AJ298105 Genomic DNA Translation: CAC18649.1 AK301384 mRNA Translation: BAG62924.1 AC107928 Genomic DNA No translation available. AL138810 Genomic DNA No translation available. AL356215 Genomic DNA No translation available. CH471064 Genomic DNA Translation: EAW68158.1 CH471064 Genomic DNA Translation: EAW68160.1 BC010389 mRNA Translation: AAH10389.1 U79296 mRNA Translation: AAB50223.1 |
CCDSi | CCDS44569.1 [O00330-3] CCDS53616.1 [O00330-2] CCDS7896.1 [O00330-1] |
RefSeqi | NP_001128496.1, NM_001135024.1 [O00330-3] NP_001159630.1, NM_001166158.1 [O00330-2] NP_003468.2, NM_003477.2 [O00330-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1ZY8 | X-ray | 2.59 | K/L/M/N/O | 54-274 | [»] | |
2DNC | NMR | - | A | 57-141 | [»] | |
2F5Z | X-ray | 2.18 | K/L/M/N/O | 173-228 | [»] | |
2F60 | X-ray | 1.55 | K | 173-228 | [»] | |
6H60 | electron microscopy | 6.00 | A | 1-501 | [»] | |
SMRi | O00330 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 113737, 51 interactors |
DIPi | DIP-29026N |
IntActi | O00330, 24 interactors |
MINTi | O00330 |
STRINGi | 9606.ENSP00000227868 |
PTM databases
iPTMneti | O00330 |
PhosphoSitePlusi | O00330 |
SwissPalmi | O00330 |
Genetic variation databases
BioMutai | PDHX |
Proteomic databases
EPDi | O00330 |
jPOSTi | O00330 |
MassIVEi | O00330 |
MaxQBi | O00330 |
PaxDbi | O00330 |
PeptideAtlasi | O00330 |
PRIDEi | O00330 |
ProteomicsDBi | 19121 19268 47851 [O00330-1] |
Protocols and materials databases
Antibodypediai | 25893, 290 antibodies |
DNASUi | 8050 |
Genome annotation databases
Ensembli | ENST00000227868; ENSP00000227868; ENSG00000110435 [O00330-1] ENST00000430469; ENSP00000415695; ENSG00000110435 [O00330-2] ENST00000448838; ENSP00000389404; ENSG00000110435 [O00330-3] |
GeneIDi | 8050 |
KEGGi | hsa:8050 |
UCSCi | uc001mvt.4, human [O00330-1] |
Organism-specific databases
CTDi | 8050 |
DisGeNETi | 8050 |
GeneCardsi | PDHX |
HGNCi | HGNC:21350, PDHX |
HPAi | ENSG00000110435, Tissue enhanced (skeletal) |
MalaCardsi | PDHX |
MIMi | 245349, phenotype 608769, gene |
neXtProti | NX_O00330 |
OpenTargetsi | ENSG00000110435 |
Orphaneti | 255182, Pyruvate dehydrogenase E3-binding protein deficiency |
PharmGKBi | PA134976445 |
VEuPathDBi | HostDB:ENSG00000110435.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0557, Eukaryota |
GeneTreei | ENSGT00940000156046 |
HOGENOMi | CLU_016733_10_2_1 |
InParanoidi | O00330 |
OMAi | NAVWAGD |
OrthoDBi | 747232at2759 |
PhylomeDBi | O00330 |
TreeFami | TF332256 |
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000110435-MONOMER |
PathwayCommonsi | O00330 |
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 |
SIGNORi | O00330 |
Miscellaneous databases
BioGRID-ORCSi | 8050, 5 hits in 876 CRISPR screens |
ChiTaRSi | PDHX, human |
EvolutionaryTracei | O00330 |
GeneWikii | E3_binding_protein |
GenomeRNAii | 8050 |
Pharosi | O00330, Tbio |
PROi | PR:O00330 |
RNActi | O00330, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000110435, Expressed in skeletal muscle tissue and 244 other tissues |
ExpressionAtlasi | O00330, baseline and differential |
Genevisiblei | O00330, HS |
Family and domain databases
Gene3Di | 3.30.559.10, 1 hit 4.10.320.10, 1 hit |
InterProi | View protein in InterPro IPR003016, 2-oxoA_DH_lipoyl-BS IPR001078, 2-oxoacid_DH_actylTfrase IPR000089, Biotin_lipoyl IPR023213, CAT-like_dom_sf IPR036625, E3-bd_dom_sf IPR004167, PSBD IPR011053, Single_hybrid_motif |
Pfami | View protein in Pfam PF00198, 2-oxoacid_dh, 1 hit PF00364, Biotin_lipoyl, 1 hit PF02817, E3_binding, 1 hit |
SUPFAMi | SSF47005, SSF47005, 1 hit SSF51230, SSF51230, 1 hit |
PROSITEi | View protein in PROSITE PS50968, BIOTINYL_LIPOYL, 1 hit PS00189, LIPOYL, 1 hit PS51826, PSBD, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ODPX_HUMAN | |
Accessioni | O00330Primary (citable) accession number: O00330 Secondary accession number(s): B4DW62 Q99783 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1999 |
Last sequence update: | January 24, 2001 | |
Last modified: | February 10, 2021 | |
This is version 204 of the entry and version 3 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
3D-structure, Reference proteomeDocuments
- 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants