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UniProtKB - O00330 (ODPX_HUMAN)

Entry version 195 (16 Oct 2019)
Sequence version 3 (24 Jan 2001)
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Protein

Pyruvate dehydrogenase protein X component, mitochondrial

Gene

PDHX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:ENSG00000110435-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...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

SIGNOR Signaling Network Open Resource

More...SIGNORi		O00330

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Pyruvate dehydrogenase protein X component, mitochondrial
Alternative name(s):
Dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex
E3-binding protein
Short name:
E3BP
Lipoyl-containing pyruvate dehydrogenase complex component X
proX
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PDHX
Synonyms:PDX1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21350 PDHX

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608769 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O00330

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Pyruvate dehydrogenase E3-binding protein deficiency (PDHXD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by decreased activity of the pyruvate dehydrogenase complex without observable reduction in the activities of enzymes E1, E2, or E3. Clinical features include hypotonia and psychomotor retardation.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi183R → A: Strongly decreased DLD binding. 1 Publication1
Mutagenesisi185S → A: Strongly decreased DLD binding. 1 Publication1
Mutagenesisi186P → A: Strongly decreased DLD binding. 1 Publication1
Mutagenesisi187A → M: Strongly decreased DLD binding. 1 Publication1
Mutagenesisi189R → A: Strongly decreased DLD binding. 1 Publication1
Mutagenesisi190N → A: Decreased DLD binding. 2 Publications1
Mutagenesisi190N → K: Moderately decreased interaction with DLD. 1 Publication1
Mutagenesisi193E → A: Strongly decreased DLD binding. 1 Publication1
Mutagenesisi208R → A: Strongly decreased DLD binding. 1 Publication1
Mutagenesisi208R → D: Decreased interaction with DLD. 1 Publication1
Mutagenesisi210I → A: Strongly decreased DLD binding. 1 Publication1
Mutagenesisi210I → R: Decreased interaction with DLD. 1 Publication1
Mutagenesisi210I → S: Decreased interaction with DLD. 1 Publication1
Mutagenesisi213K → A: Strongly decreased DLD binding. 1 Publication1
Mutagenesisi214E → A: Strongly decreased DLD binding. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		8050

MalaCards human disease database

More...MalaCardsi		PDHX
MIMi245349 phenotype

Open Targets

More...OpenTargetsi		ENSG00000110435

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		255182 Pyruvate dehydrogenase E3-binding protein deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134976445

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O00330

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PDHX

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 53MitochondrionBy similarityAdd BLAST53
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002048454 – 501Pyruvate dehydrogenase protein X component, mitochondrialAdd BLAST448

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei97N6-lipoyllysinePROSITE-ProRule annotation1 Publication1
Modified residuei194N6-acetyllysineCombined sources1
Modified residuei196PhosphoserineCombined sources1
Modified residuei394N6-succinyllysineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Delipoylated at Lys-97 by SIRT4, delipoylation decreases the PHD complex activity.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O00330

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O00330

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O00330

MaxQB - The MaxQuant DataBase

More...MaxQBi		O00330

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O00330

PeptideAtlas

More...PeptideAtlasi		O00330

PRoteomics IDEntifications database

More...PRIDEi		O00330

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		19121
19268
47851 [O00330-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O00330

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O00330

SwissPalm database of S-palmitoylation events

More...SwissPalmi		O00330

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000110435 Expressed in 233 organ(s), highest expression level in skeletal muscle tissue

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O00330 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O00330 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA038484
HPA038485

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		113737, 34 interactors

Database of interacting proteins

More...DIPi		DIP-29026N

Protein interaction database and analysis system

More...IntActi		O00330, 22 interactors

Molecular INTeraction database

More...MINTi		O00330

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000227868

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1501
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O00330

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O00330

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini56 – 132Lipoyl-bindingPROSITE-ProRule annotationAdd BLAST77
Domaini183 – 220Peripheral subunit-binding (PSBD)PROSITE-ProRule annotationAdd BLAST38

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi149 – 170Pro-richAdd BLAST22

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the 2-oxoacid dehydrogenase family.Curated

Keywords - Domaini

Lipoyl, Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0557 Eukaryota
COG0508 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156046

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000281566

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O00330

KEGG Orthology (KO)

More...KOi		K13997

Identification of Orthologs from Complete Genome Data

More...OMAi		NAVWAGD

Database of Orthologous Groups

More...OrthoDBi		747232at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O00330

TreeFam database of animal gene trees

More...TreeFami		TF332256

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.559.10, 1 hit
4.10.320.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00198 2-oxoacid_dh, 1 hit
PF00364 Biotin_lipoyl, 1 hit
PF02817 E3_binding, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47005 SSF47005, 1 hit
SSF51230 SSF51230, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50968 BIOTINYL_LIPOYL, 1 hit
PS00189 LIPOYL, 1 hit
PS51826 PSBD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O00330-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:501
Mass (Da):54,122
Last modified:January 24, 2001 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9CF0C1DAE9E12EF9
GO
Isoform 2 (identifier: O00330-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-341: Missing.

Note: No experimental confirmation available.
Show »
Length:274
Mass (Da):29,906
Checksum:i7657F43CA5F9B61D
GO
Isoform 3 (identifier: O00330-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2-53: AASWRLGCDP...RWFHSTQWLR → QSGGAEGSPG...ISSGAPDFPG

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:486
Mass (Da):51,460
Checksum:iC0682D60CAC5BDF5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PLU0E9PLU0_HUMAN
Pyruvate dehydrogenase protein X co...
PDHX
151Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PRI6E9PRI6_HUMAN
Pyruvate dehydrogenase protein X co...
PDHX
182Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YD97H0YD97_HUMAN
Pyruvate dehydrogenase protein X co...
PDHX
189Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti41A → R in AAC39661 (PubMed:9467010).Curated1
Sequence conflicti251A → S in AAB66315 (PubMed:9242632).Curated1
Sequence conflicti251A → S in CAA73606 (PubMed:9399911).Curated1
Sequence conflicti344P → S in BAG62924 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04661923R → C1 PublicationCorresponds to variant dbSNP:rs1049306EnsemblClinVar.1
Natural variantiVAR_046620101T → A. Corresponds to variant dbSNP:rs11539202EnsemblClinVar.1
Natural variantiVAR_046621370D → V1 PublicationCorresponds to variant dbSNP:rs17850649Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0538172 – 53AASWR…TQWLR → QSGGAEGSPGAGRTGRGPGS GKAPPAEISSGAPDFPG in isoform 3. CuratedAdd BLAST52
Alternative sequenceiVSP_045271115 – 341Missing in isoform 2. CuratedAdd BLAST227

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS44569.1 [O00330-3]
CCDS53616.1 [O00330-2]
CCDS7896.1 [O00330-1]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000227868; ENSP00000227868; ENSG00000110435 [O00330-1]
ENST00000430469; ENSP00000415695; ENSG00000110435 [O00330-2]
ENST00000448838; ENSP00000389404; ENSG00000110435 [O00330-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8050

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8050

UCSC genome browser

More...UCSCi		uc001mvt.4 human [O00330-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS44569.1 [O00330-3]
CCDS53616.1 [O00330-2]
CCDS7896.1 [O00330-1]
RefSeqiNP_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:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ZY8X-ray2.59K/L/M/N/O54-274[»]
2DNCNMR-A57-141[»]
2F5ZX-ray2.18K/L/M/N/O173-228[»]
2F60X-ray1.55K173-228[»]
6H60electron microscopy6.00A1-501[»]
SMRiO00330
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi113737, 34 interactors
DIPiDIP-29026N
IntActiO00330, 22 interactors
MINTiO00330
STRINGi9606.ENSP00000227868

PTM databases

iPTMnetiO00330
PhosphoSitePlusiO00330
SwissPalmiO00330

Polymorphism and mutation databases

BioMutaiPDHX

Proteomic databases

EPDiO00330
jPOSTiO00330
MassIVEiO00330
MaxQBiO00330
PaxDbiO00330
PeptideAtlasiO00330
PRIDEiO00330
ProteomicsDBi19121
19268
47851 [O00330-1]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		8050

Genome annotation databases

EnsembliENST00000227868; ENSP00000227868; ENSG00000110435 [O00330-1]
ENST00000430469; ENSP00000415695; ENSG00000110435 [O00330-2]
ENST00000448838; ENSP00000389404; ENSG00000110435 [O00330-3]
GeneIDi8050
KEGGihsa:8050
UCSCiuc001mvt.4 human [O00330-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8050
DisGeNETi8050

GeneCards: human genes, protein and diseases

More...GeneCardsi		PDHX
HGNCiHGNC:21350 PDHX
HPAiHPA038484
HPA038485
MalaCardsiPDHX
MIMi245349 phenotype
608769 gene
neXtProtiNX_O00330
OpenTargetsiENSG00000110435
Orphaneti255182 Pyruvate dehydrogenase E3-binding protein deficiency
PharmGKBiPA134976445

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0557 Eukaryota
COG0508 LUCA
GeneTreeiENSGT00940000156046
HOGENOMiHOG000281566
InParanoidiO00330
KOiK13997
OMAiNAVWAGD
OrthoDBi747232at2759
PhylomeDBiO00330
TreeFamiTF332256

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000110435-MONOMER
ReactomeiR-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
SIGNORiO00330

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PDHX human
EvolutionaryTraceiO00330

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		E3_binding_protein

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		8050
PharosiO00330

Protein Ontology

More...PROi		PR:O00330

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000110435 Expressed in 233 organ(s), highest expression level in skeletal muscle tissue
ExpressionAtlasiO00330 baseline and differential
GenevisibleiO00330 HS

Family and domain databases

Gene3Di3.30.559.10, 1 hit
4.10.320.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF00198 2-oxoacid_dh, 1 hit
PF00364 Biotin_lipoyl, 1 hit
PF02817 E3_binding, 1 hit
SUPFAMiSSF47005 SSF47005, 1 hit
SSF51230 SSF51230, 1 hit
PROSITEiView protein in PROSITE
PS50968 BIOTINYL_LIPOYL, 1 hit
PS00189 LIPOYL, 1 hit
PS51826 PSBD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiODPX_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O00330
Secondary accession number(s): B4DW62
, D3DR11, E9PB14, E9PBP7, O60221, Q96FV8, Q99783
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 24, 2001
Last modified: October 16, 2019
This is version 195 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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