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Protein

[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial

Gene

PDK3

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

Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species.7 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by interaction with DLAT. Inhibited by AZD7545, dichloroacetate and radicicol.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei287ATP1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi247 – 254ATP1 Publication8
Nucleotide bindingi306 – 307ATP1 Publication2
Nucleotide bindingi323 – 328ATP1 Publication6

<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

GO - Biological processi

<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>Keywordsi

Molecular functionKinase, Transferase
Biological processCarbohydrate metabolism, Glucose metabolism
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-204174 Regulation of pyruvate dehydrogenase (PDH) complex
R-HSA-5362517 Signaling by Retinoic Acid

SIGNOR Signaling Network Open Resource

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SIGNORi
Q15120

<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 (acetyl-transferring)] kinase isozyme 3, mitochondrial (EC:2.7.11.2)
Alternative name(s):
Pyruvate dehydrogenase kinase isoform 3
<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:PDK3
Synonyms:PDHK3
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000067992.12

Human Gene Nomenclature Database

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HGNCi
HGNC:8811 PDK3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300906 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15120

<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; Source: COMPARTMENTS

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

Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.
See also OMIM:300905
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_070082158R → H in CMTX6; gain of function; results in a 5-fold increase in kinase activity, decreased sensitivity to pyruvate inhibition, reduced affinity for nucleotides and increased affinity for pyruvate dehydrogenase complex component E2 (PDC-E2), leading to PDC hyperphosphorylation and increased inactivation. 1 PublicationCorresponds to variant dbSNP:rs397515323EnsemblClinVar.1

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>Mutagenesisi120N → H: No effect on kinase activity; when associated with N-121. 1 Publication1
Mutagenesisi121D → N: No effect on kinase activity; when associated with H-120. 1 Publication1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
5165

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
PDK3

MalaCards human disease database

More...
MalaCardsi
PDK3
MIMi300905 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000067992

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

More...
Orphaneti
352675 X-linked Charcot-Marie-Tooth disease type 6

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33156

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3893

Drug and drug target database

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DrugBanki
DB03760 Dihydrolipoic Acid
DB03758 Radicicol

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
2143

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PDK3

Domain mapping of disease mutations (DMDM)

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DMDMi
3183119

<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 polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000023443? – 406[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial
<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 – ?MitochondrionSequence analysis

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 residuei278N6-succinyllysineBy similarity1

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q15120

MaxQB - The MaxQuant DataBase

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MaxQBi
Q15120

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

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PaxDbi
Q15120

PeptideAtlas

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PeptideAtlasi
Q15120

PRoteomics IDEntifications database

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PRIDEi
Q15120

ProteomicsDB human proteome resource

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ProteomicsDBi
60447
60448 [Q15120-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q15120

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

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PhosphoSitePlusi
Q15120

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in heart, skeletal muscle, spinal cord, as well as fetal and adult brain.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated in response to hypoxia. Up-regulated in response to fatty acids. Up-regulated by PPARD.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000067992 Expressed in 161 organ(s), highest expression level in tibial artery

CleanEx database of gene expression profiles

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CleanExi
HS_PDK3

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q15120 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA046583
HPA072492

<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

Homodimer. Interacts with the pyruvate dehydrogenase complex subunit 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).5 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111191, 37 interactors

Database of interacting proteins

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DIPi
DIP-29498N

Protein interaction database and analysis system

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IntActi
Q15120, 30 interactors

Molecular INTeraction database

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MINTi
Q15120

STRING: functional protein association networks

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STRINGi
9606.ENSP00000387536

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q15120

<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

1406
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q15120

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

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SMRi
Q15120

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q15120

<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>Domaini131 – 362Histidine kinasePROSITE-ProRule annotationAdd BLAST232

<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 PDK/BCKDK protein kinase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0787 Eukaryota
COG0642 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153673

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000164315

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000511

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q15120

KEGG Orthology (KO)

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KOi
K00898

Identification of Orthologs from Complete Genome Data

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OMAi
KYGFDPF

Database of Orthologous Groups

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OrthoDBi
EOG091G07DJ

Database for complete collections of gene phylogenies

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PhylomeDBi
Q15120

TreeFam database of animal gene trees

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TreeFami
TF314918

Family and domain databases

Conserved Domains Database

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CDDi
cd00075 HATPase_c, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.140.20, 1 hit
3.30.565.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036784 AK/P_DHK_N_sf
IPR018955 BCDHK/PDK_N
IPR039028 BCKD/PDK
IPR003594 HATPase_C
IPR036890 HATPase_C_sf
IPR005467 His_kinase_dom

The PANTHER Classification System

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PANTHERi
PTHR11947 PTHR11947, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF10436 BCDHK_Adom3, 1 hit
PF02518 HATPase_c, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00387 HATPase_c, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF55874 SSF55874, 1 hit
SSF69012 SSF69012, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50109 HIS_KIN, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)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 2 <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
Isoform 1 (identifier: Q15120-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MRLFRWLLKQ PVPKQIERYS RFSPSPLSIK QFLDFGRDNA CEKTSYMFLR
60 70 80 90 100
KELPVRLANT MREVNLLPDN LLNRPSVGLV QSWYMQSFLE LLEYENKSPE
110 120 130 140 150
DPQVLDNFLQ VLIKVRNRHN DVVPTMAQGV IEYKEKFGFD PFISTNIQYF
160 170 180 190 200
LDRFYTNRIS FRMLINQHTL LFGGDTNPVH PKHIGSIDPT CNVADVVKDA
210 220 230 240 250
YETAKMLCEQ YYLVAPELEV EEFNAKAPDK PIQVVYVPSH LFHMLFELFK
260 270 280 290 300
NSMRATVELY EDRKEGYPAV KTLVTLGKED LSIKISDLGG GVPLRKIDRL
310 320 330 340 350
FNYMYSTAPR PSLEPTRAAP LAGFGYGLPI SRLYARYFQG DLKLYSMEGV
360 370 380 390 400
GTDAVIYLKA LSSESFERLP VFNKSAWRHY KTTPEADDWS NPSSEPRDAS

KYKAKQ
Length:406
Mass (Da):46,939
Last modified:November 1, 1996 - v1
<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:iEF2415D3F9D8D61E
GO
Isoform 2 (identifier: Q15120-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     406-406: Q → QDKIKTNRTF

Note: No experimental confirmation available.
Show »
Length:415
Mass (Da):48,043
Checksum:iBDE814D88CE6A279
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070081114K → T1 PublicationCorresponds to variant dbSNP:rs146331370Ensembl.1
Natural variantiVAR_070082158R → H in CMTX6; gain of function; results in a 5-fold increase in kinase activity, decreased sensitivity to pyruvate inhibition, reduced affinity for nucleotides and increased affinity for pyruvate dehydrogenase complex component E2 (PDC-E2), leading to PDC hyperphosphorylation and increased inactivation. 1 PublicationCorresponds to variant dbSNP:rs397515323EnsemblClinVar.1
Natural variantiVAR_042297219E → A in a head & neck squamous cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_070083334Y → S1 Publication1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_043365406Q → QDKIKTNRTF in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
L42452 mRNA Translation: AAC42011.1
AK301965 mRNA Translation: BAG63378.1
CH471074 Genomic DNA Translation: EAW99019.1
BC015948 mRNA Translation: AAH15948.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14212.1 [Q15120-1]
CCDS48088.1 [Q15120-2]

Protein sequence database of the Protein Information Resource

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PIRi
I70160

NCBI Reference Sequences

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RefSeqi
NP_001135858.1, NM_001142386.2 [Q15120-2]
NP_005382.1, NM_005391.4 [Q15120-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.296031

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000379162; ENSP00000368460; ENSG00000067992 [Q15120-1]
ENST00000441463; ENSP00000387536; ENSG00000067992 [Q15120-2]
ENST00000648777; ENSP00000497727; ENSG00000067992 [Q15120-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5165

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5165

UCSC genome browser

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UCSCi
uc004dbg.4 human [Q15120-1]

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
L42452 mRNA Translation: AAC42011.1
AK301965 mRNA Translation: BAG63378.1
CH471074 Genomic DNA Translation: EAW99019.1
BC015948 mRNA Translation: AAH15948.1
CCDSiCCDS14212.1 [Q15120-1]
CCDS48088.1 [Q15120-2]
PIRiI70160
RefSeqiNP_001135858.1, NM_001142386.2 [Q15120-2]
NP_005382.1, NM_005391.4 [Q15120-1]
UniGeneiHs.296031

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Y8NX-ray2.60A9-406[»]
1Y8OX-ray2.48A9-406[»]
1Y8PX-ray2.63A9-406[»]
2PNRX-ray2.50A/B/E/F9-406[»]
2Q8IX-ray2.60A9-406[»]
ProteinModelPortaliQ15120
SMRiQ15120
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111191, 37 interactors
DIPiDIP-29498N
IntActiQ15120, 30 interactors
MINTiQ15120
STRINGi9606.ENSP00000387536

Chemistry databases

BindingDBiQ15120
ChEMBLiCHEMBL3893
DrugBankiDB03760 Dihydrolipoic Acid
DB03758 Radicicol
GuidetoPHARMACOLOGYi2143

PTM databases

iPTMnetiQ15120
PhosphoSitePlusiQ15120

Polymorphism and mutation databases

BioMutaiPDK3
DMDMi3183119

Proteomic databases

EPDiQ15120
MaxQBiQ15120
PaxDbiQ15120
PeptideAtlasiQ15120
PRIDEiQ15120
ProteomicsDBi60447
60448 [Q15120-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
5165
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379162; ENSP00000368460; ENSG00000067992 [Q15120-1]
ENST00000441463; ENSP00000387536; ENSG00000067992 [Q15120-2]
ENST00000648777; ENSP00000497727; ENSG00000067992 [Q15120-1]
GeneIDi5165
KEGGihsa:5165
UCSCiuc004dbg.4 human [Q15120-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5165
DisGeNETi5165
EuPathDBiHostDB:ENSG00000067992.12

GeneCards: human genes, protein and diseases

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GeneCardsi
PDK3
GeneReviewsiPDK3
HGNCiHGNC:8811 PDK3
HPAiHPA046583
HPA072492
MalaCardsiPDK3
MIMi300905 phenotype
300906 gene
neXtProtiNX_Q15120
OpenTargetsiENSG00000067992
Orphaneti352675 X-linked Charcot-Marie-Tooth disease type 6
PharmGKBiPA33156

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0787 Eukaryota
COG0642 LUCA
GeneTreeiENSGT00940000153673
HOGENOMiHOG000164315
HOVERGENiHBG000511
InParanoidiQ15120
KOiK00898
OMAiKYGFDPF
OrthoDBiEOG091G07DJ
PhylomeDBiQ15120
TreeFamiTF314918

Enzyme and pathway databases

ReactomeiR-HSA-204174 Regulation of pyruvate dehydrogenase (PDH) complex
R-HSA-5362517 Signaling by Retinoic Acid
SIGNORiQ15120

Miscellaneous databases

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

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ChiTaRSi
PDK3 human
EvolutionaryTraceiQ15120

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PDK3

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

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GenomeRNAii
5165

Protein Ontology

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PROi
PR:Q15120

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000067992 Expressed in 161 organ(s), highest expression level in tibial artery
CleanExiHS_PDK3
GenevisibleiQ15120 HS

Family and domain databases

CDDicd00075 HATPase_c, 1 hit
Gene3Di1.20.140.20, 1 hit
3.30.565.10, 1 hit
InterProiView protein in InterPro
IPR036784 AK/P_DHK_N_sf
IPR018955 BCDHK/PDK_N
IPR039028 BCKD/PDK
IPR003594 HATPase_C
IPR036890 HATPase_C_sf
IPR005467 His_kinase_dom
PANTHERiPTHR11947 PTHR11947, 1 hit
PfamiView protein in Pfam
PF10436 BCDHK_Adom3, 1 hit
PF02518 HATPase_c, 1 hit
SMARTiView protein in SMART
SM00387 HATPase_c, 1 hit
SUPFAMiSSF55874 SSF55874, 1 hit
SSF69012 SSF69012, 1 hit
PROSITEiView protein in PROSITE
PS50109 HIS_KIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiPDK3_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: Q15120
Secondary accession number(s): B4DXG6
<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, 1998
Last sequence update: November 1, 1996
Last modified: December 5, 2018
This is version 184 of the entry and version 1 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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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