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Entry version 183 (18 Sep 2019)
Sequence version 2 (06 Jun 2002)
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Protein

[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial

Gene

BCKDK

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

Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex.1 Publication

<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>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
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-70895 Branched-chain amino acid catabolism

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O14874

<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:
[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial (EC:2.7.11.4)
Alternative name(s):
Branched-chain alpha-ketoacid dehydrogenase kinase
Short name:
BCKD-kinase
Short name:
BCKDHKIN
<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:BCKDK
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16902 BCKDK

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614901 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O14874

<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

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

Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. A diet enriched in branched amino acids (BCAAs) allows to normalize plasma BCAA levels. This suggests that it may be possible to treat patients with mutations in BCKDK with BCAA supplementation.
Disease descriptionA metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids.
Related information in OMIM
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_072184174R → G in BCKDKD; partial loss of kinase activity. 1 Publication1
Natural variantiVAR_069037224R → P in BCKDKD. 1 PublicationCorresponds to variant dbSNP:rs147210405EnsemblClinVar.1
Natural variantiVAR_072185389L → P in BCKDKD; complete loss of kinase activity. 1 Publication1

Keywords - Diseasei

Autism, Autism spectrum disorder, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
10295

MalaCards human disease database

More...
MalaCardsi
BCKDK
MIMi614923 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000103507

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

More...
Orphaneti
308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134899581

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB02930 Adenosine 5'-[Gama-thio]triphosphate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BCKDK

<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 – 30MitochondrionBy similarityAdd BLAST30
<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_000002345231 – 412[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrialAdd BLAST382

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 residuei31PhosphoserineBy similarity1
Modified residuei52Phosphoserine; by autocatalysisBy similarity1
Modified residuei192N6-acetyllysineCombined sources1
Modified residuei233N6-acetyllysineCombined sources1
Modified residuei356PhosphoserineBy similarity1
Modified residuei360PhosphoserineBy 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

Autophosphorylated.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O14874

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O14874

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O14874

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O14874

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

More...
PaxDbi
O14874

PeptideAtlas

More...
PeptideAtlasi
O14874

PRoteomics IDEntifications database

More...
PRIDEi
O14874

ProteomicsDB human proteome resource

More...
ProteomicsDBi
2373
48278 [O14874-1]
76605

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O14874

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

More...
PhosphoSitePlusi
O14874

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O14874

<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

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000103507 Expressed in 195 organ(s), highest expression level in apex of heart

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O14874 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O14874 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA017995
HPA056067

<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

Monomer.

By similarity

<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)

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BioGridi
115583, 41 interactors

Protein interaction database and analysis system

More...
IntActi
O14874, 19 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000378405

<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

3D structure databases

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

More...
SMRi
O14874

Database of comparative protein structure models

More...
ModBasei
Search...

<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>Domaini159 – 404Histidine kinasePROSITE-ProRule annotationAdd BLAST246

<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

More...
eggNOGi
KOG0787 Eukaryota
COG0642 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182814

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000164315

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O14874

KEGG Orthology (KO)

More...
KOi
K00905

Identification of Orthologs from Complete Genome Data

More...
OMAi
VVSNPHV

Database of Orthologous Groups

More...
OrthoDBi
1242599at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O14874

TreeFam database of animal gene trees

More...
TreeFami
TF331303

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.140.20, 1 hit
3.30.565.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
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
IPR004358 Sig_transdc_His_kin-like_C

The PANTHER Classification System

More...
PANTHERi
PTHR11947 PTHR11947, 1 hit

Pfam protein domain database

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

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00344 BCTRLSENSOR

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00387 HATPase_c, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF55874 SSF55874, 1 hit
SSF69012 SSF69012, 1 hit

PROSITE; a protein domain and family database

More...
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>. 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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14874-1) [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
MILASVLRSG PGGGLPLRPL LGPALALRAR STSATDTHHV EMARERSKTV
60 70 80 90 100
TSFYNQSAID AAAEKPSVRL TPTMMLYAGR SQDGSHLLKS ARYLQQELPV
110 120 130 140 150
RIAHRIKGFR CLPFIIGCNP TILHVHELYI RAFQKLTDFP PIKDQADEAQ
160 170 180 190 200
YCQLVRQLLD DHKDVVTLLA EGLRESRKHI EDEKLVRYFL DKTLTSRLGI
210 220 230 240 250
RMLATHHLAL HEDKPDFVGI ICTRLSPKKI IEKWVDFARR LCEHKYGNAP
260 270 280 290 300
RVRINGHVAA RFPFIPMPLD YILPELLKNA MRATMESHLD TPYNVPDVVI
310 320 330 340 350
TIANNDVDLI IRISDRGGGI AHKDLDRVMD YHFTTAEAST QDPRISPLFG
360 370 380 390 400
HLDMHSGAQS GPMHGFGFGL PTSRAYAEYL GGSLQLQSLQ GIGTDVYLRL
410
RHIDGREESF RI
Length:412
Mass (Da):46,360
Last modified:June 6, 2002 - v2
<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:iAC97CF5D151FEFB4
GO
Isoform 2 (identifier: O14874-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     282-311: Missing.
     366-412: Missing.

Note: No experimental confirmation available.
Show »
Length:335
Mass (Da):37,768
Checksum:iB66E1F96C0718C57
GO
Isoform 3 (identifier: O14874-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     366-412: Missing.

Note: No experimental confirmation available.
Show »
Length:365
Mass (Da):41,090
Checksum:i8702A3E7E94341DC
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BS02H3BS02_HUMAN
Protein-serine/threonine kinase
BCKDK
217Annotation score:

Annotation score:2 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>
H3BTL2H3BTL2_HUMAN
Protein-serine/threonine kinase
BCKDK
216Annotation score:

Annotation score:2 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>
H3BUV3H3BUV3_HUMAN
Protein-serine/threonine kinase
BCKDK
146Annotation score:

Annotation score:2 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>
H3BNP3H3BNP3_HUMAN
Protein-serine/threonine kinase
BCKDK
88Annotation score:

Annotation score:2 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>
H3BQP2H3BQP2_HUMAN
[3-methyl-2-oxobutanoate dehydrogen...
BCKDK
60Annotation 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 conflicti3L → P in AK130145 (PubMed:14702039).Curated1
Sequence conflicti114F → S in AK130145 (PubMed:14702039).Curated1
Sequence conflicti218V → F in AAB82714 (Ref. 1) Curated1
Sequence conflicti227P → S in AK130145 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072184174R → G in BCKDKD; partial loss of kinase activity. 1 Publication1
Natural variantiVAR_069037224R → P in BCKDKD. 1 PublicationCorresponds to variant dbSNP:rs147210405EnsemblClinVar.1
Natural variantiVAR_072185389L → P in BCKDKD; complete loss of kinase activity. 1 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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_054604282 – 311Missing in isoform 2. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_054605366 – 412Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST47

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
AF026548 mRNA Translation: AAB82714.1
AK130145 mRNA No translation available.
CR542093 mRNA Translation: CAG46890.1
AC135050 Genomic DNA No translation available.
CH471192 Genomic DNA Translation: EAW52160.1
CH471192 Genomic DNA Translation: EAW52161.1
CH471192 Genomic DNA Translation: EAW52163.1
BC007363 mRNA Translation: AAH07363.1
BC009872 mRNA Translation: AAH09872.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS10705.1 [O14874-1]
CCDS45467.1 [O14874-3]
CCDS61917.1 [O14874-2]

NCBI Reference Sequences

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RefSeqi
NP_001116429.1, NM_001122957.2 [O14874-3]
NP_001258855.1, NM_001271926.1 [O14874-2]
NP_005872.2, NM_005881.3 [O14874-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000219794; ENSP00000219794; ENSG00000103507 [O14874-1]
ENST00000287507; ENSP00000287507; ENSG00000103507 [O14874-2]
ENST00000394950; ENSP00000378404; ENSG00000103507 [O14874-3]
ENST00000394951; ENSP00000378405; ENSG00000103507 [O14874-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10295

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10295

UCSC genome browser

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UCSCi
uc002eav.6 human [O14874-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Protein Spotlight

The silence within - Issue 147 of March 2013

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF026548 mRNA Translation: AAB82714.1
AK130145 mRNA No translation available.
CR542093 mRNA Translation: CAG46890.1
AC135050 Genomic DNA No translation available.
CH471192 Genomic DNA Translation: EAW52160.1
CH471192 Genomic DNA Translation: EAW52161.1
CH471192 Genomic DNA Translation: EAW52163.1
BC007363 mRNA Translation: AAH07363.1
BC009872 mRNA Translation: AAH09872.1
CCDSiCCDS10705.1 [O14874-1]
CCDS45467.1 [O14874-3]
CCDS61917.1 [O14874-2]
RefSeqiNP_001116429.1, NM_001122957.2 [O14874-3]
NP_001258855.1, NM_001271926.1 [O14874-2]
NP_005872.2, NM_005881.3 [O14874-1]

3D structure databases

SMRiO14874
ModBaseiSearch...

Protein-protein interaction databases

BioGridi115583, 41 interactors
IntActiO14874, 19 interactors
STRINGi9606.ENSP00000378405

Chemistry databases

DrugBankiDB02930 Adenosine 5'-[Gama-thio]triphosphate

PTM databases

iPTMnetiO14874
PhosphoSitePlusiO14874
SwissPalmiO14874

Polymorphism and mutation databases

BioMutaiBCKDK

Proteomic databases

EPDiO14874
jPOSTiO14874
MassIVEiO14874
MaxQBiO14874
PaxDbiO14874
PeptideAtlasiO14874
PRIDEiO14874
ProteomicsDBi2373
48278 [O14874-1]
76605

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
10295
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000219794; ENSP00000219794; ENSG00000103507 [O14874-1]
ENST00000287507; ENSP00000287507; ENSG00000103507 [O14874-2]
ENST00000394950; ENSP00000378404; ENSG00000103507 [O14874-3]
ENST00000394951; ENSP00000378405; ENSG00000103507 [O14874-1]
GeneIDi10295
KEGGihsa:10295
UCSCiuc002eav.6 human [O14874-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10295
DisGeNETi10295

GeneCards: human genes, protein and diseases

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GeneCardsi
BCKDK
HGNCiHGNC:16902 BCKDK
HPAiHPA017995
HPA056067
MalaCardsiBCKDK
MIMi614901 gene
614923 phenotype
neXtProtiNX_O14874
OpenTargetsiENSG00000103507
Orphaneti308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
PharmGKBiPA134899581

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0787 Eukaryota
COG0642 LUCA
GeneTreeiENSGT00950000182814
HOGENOMiHOG000164315
InParanoidiO14874
KOiK00905
OMAiVVSNPHV
OrthoDBi1242599at2759
PhylomeDBiO14874
TreeFamiTF331303

Enzyme and pathway databases

ReactomeiR-HSA-70895 Branched-chain amino acid catabolism
SIGNORiO14874

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
BCKDK

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

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GenomeRNAii
10295

Pharos

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Pharosi
O14874

Protein Ontology

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PROi
PR:O14874

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000103507 Expressed in 195 organ(s), highest expression level in apex of heart
ExpressionAtlasiO14874 baseline and differential
GenevisibleiO14874 HS

Family and domain databases

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
IPR004358 Sig_transdc_His_kin-like_C
PANTHERiPTHR11947 PTHR11947, 1 hit
PfamiView protein in Pfam
PF10436 BCDHK_Adom3, 1 hit
PF02518 HATPase_c, 1 hit
PRINTSiPR00344 BCTRLSENSOR
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
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiBCKD_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: O14874
Secondary accession number(s): A8MY43
, Q6FGL4, Q96G95, Q96IN5
<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: June 6, 2002
Last modified: September 18, 2019
This is version 183 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  3. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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