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Entry version 205 (18 Sep 2019)
Sequence version 2 (01 Aug 1992)
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Protein

2-oxoisovalerate dehydrogenase subunit beta, mitochondrial

Gene

BCKDHB

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

The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO2. It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).

<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 functionOxidoreductase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:MONOMER-12006

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-70895 Branched-chain amino acid catabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P21953

<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:
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial (EC:1.2.4.4)
Alternative name(s):
Branched-chain alpha-keto acid dehydrogenase E1 component beta chain
Short name:
BCKDE1B
Short name:
BCKDH E1-beta
<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:BCKDHB
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:987 BCKDHB

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
248611 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P21953

<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

Maple syrup urine disease 1B (MSUD1B)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.
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_068348170R → H in MSUD1B. 1 PublicationCorresponds to variant dbSNP:rs371518124EnsemblClinVar.1
Natural variantiVAR_024851183R → P in MSUD1B. 1 PublicationCorresponds to variant dbSNP:rs79761867EnsemblClinVar.1
Natural variantiVAR_004974206H → R in MSUD1B. 1 Publication1
Natural variantiVAR_024852278G → S in MSUD1B. 1 PublicationCorresponds to variant dbSNP:rs386834233EnsemblClinVar.1
Natural variantiVAR_068349346Q → R in MSUD1B. 1 Publication1

Keywords - Diseasei

Disease mutation, Maple syrup urine disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
594

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

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GeneReviewsi
BCKDHB

MalaCards human disease database

More...
MalaCardsi
BCKDHB
MIMi248600 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000083123

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

More...
Orphaneti
268145 Classic maple syrup urine disease
268162 Intermediate maple syrup urine disease
268173 Intermittent maple syrup urine disease
268184 Thiamine-responsive maple syrup urine disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25298

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P21953

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BCKDHB

Domain mapping of disease mutations (DMDM)

More...
DMDMi
129034

<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 – 50MitochondrionCombined sourcesAdd BLAST50
<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_000002047051 – 3922-oxoisovalerate dehydrogenase subunit beta, mitochondrialAdd BLAST342

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 residuei232N6-acetyllysineBy similarity1
Modified residuei241N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P21953

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P21953

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P21953

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

More...
PaxDbi
P21953

PeptideAtlas

More...
PeptideAtlasi
P21953

PRoteomics IDEntifications database

More...
PRIDEi
P21953

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
53944 [P21953-1]
64342

Consortium for Top Down Proteomics

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TopDownProteomicsi
P21953-1 [P21953-1]

2D gel databases

REPRODUCTION-2DPAGE

More...
REPRODUCTION-2DPAGEi
IPI00011276

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P21953

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

More...
PhosphoSitePlusi
P21953

<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
ENSG00000083123 Expressed in 195 organ(s), highest expression level in right lobe of liver

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P21953 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P21953 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA031580

<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

Heterotetramer of 2 alpha and 2 beta chains.

<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
107066, 25 interactors

Database of interacting proteins

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DIPi
DIP-6147N

Protein interaction database and analysis system

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IntActi
P21953, 17 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000318351

<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

1392
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

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SMRi
P21953

Database of comparative protein structure models

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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
P21953

<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

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0525 Eukaryota
COG0022 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156533

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000281451

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P21953

KEGG Orthology (KO)

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KOi
K00167

Identification of Orthologs from Complete Genome Data

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OMAi
VQERCFH

Database of Orthologous Groups

More...
OrthoDBi
1200844at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P21953

TreeFam database of animal gene trees

More...
TreeFami
TF105947

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.920, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029061 THDP-binding
IPR009014 Transketo_C/PFOR_II
IPR005475 Transketolase-like_Pyr-bd
IPR033248 Transketolase_C

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02779 Transket_pyr, 1 hit
PF02780 Transketolase_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00861 Transket_pyr, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52518 SSF52518, 1 hit
SSF52922 SSF52922, 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 (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: P21953-1) [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
MAVVAAAAGW LLRLRAAGAE GHWRRLPGAG LARGFLHPAA TVEDAAQRRQ
60 70 80 90 100
VAHFTFQPDP EPREYGQTQK MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF
110 120 130 140 150
GGVFRCTVGL RDKYGKDRVF NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA
160 170 180 190 200
DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL TIRSPWGCVG HGALYHSQSP
210 220 230 240 250
EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP KILYRAAAEE
260 270 280 290 300
VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE
310 320 330 340 350
VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF
360 370 380 390
LNLEAPISRV CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY
Length:392
Mass (Da):43,122
Last modified:August 1, 1992 - 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:iD78097834D063BB7
GO
Isoform 2 (identifier: P21953-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     212-218: VVIPRSP → IKVISLS
     219-392: Missing.

Note: No experimental confirmation available.
Show »
Length:218
Mass (Da):23,550
Checksum:iFF30CBDA08FEF0F7
GO

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 conflicti20 – 23EGHW → RLPP (PubMed:2335211).Curated4
Sequence conflicti322T → S in CAA36685 (PubMed:2335211).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05043741T → I. Corresponds to variant dbSNP:rs35470366EnsemblClinVar.1
Natural variantiVAR_068348170R → H in MSUD1B. 1 PublicationCorresponds to variant dbSNP:rs371518124EnsemblClinVar.1
Natural variantiVAR_024851183R → P in MSUD1B. 1 PublicationCorresponds to variant dbSNP:rs79761867EnsemblClinVar.1
Natural variantiVAR_004974206H → R in MSUD1B. 1 Publication1
Natural variantiVAR_024852278G → S in MSUD1B. 1 PublicationCorresponds to variant dbSNP:rs386834233EnsemblClinVar.1
Natural variantiVAR_068349346Q → R in MSUD1B. 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_056370212 – 218VVIPRSP → IKVISLS in isoform 2. 1 Publication7
Alternative sequenceiVSP_056371219 – 392Missing in isoform 2. 1 PublicationAdd BLAST174

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
M55575 mRNA Translation: AAA51812.1
D90391 Genomic DNA Translation: BAA14389.1
AK289977 mRNA Translation: BAF82666.1
BT020063 mRNA Translation: AAV38866.1
AL049696 Genomic DNA No translation available.
AL391595 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48696.1
CH471051 Genomic DNA Translation: EAW48697.1
CH471051 Genomic DNA Translation: EAW48698.1
BC034481 mRNA Translation: AAH34481.1
BC040139 mRNA Translation: AAH40139.1
U50708 mRNA Translation: AAB16763.1
X52446 mRNA Translation: CAA36685.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4994.1 [P21953-1]

Protein sequence database of the Protein Information Resource

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PIRi
A37157

NCBI Reference Sequences

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RefSeqi
NP_000047.1, NM_000056.4 [P21953-1]
NP_001305904.1, NM_001318975.1
NP_898871.1, NM_183050.3 [P21953-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000320393; ENSP00000318351; ENSG00000083123 [P21953-1]
ENST00000356489; ENSP00000348880; ENSG00000083123 [P21953-1]
ENST00000369760; ENSP00000358775; ENSG00000083123 [P21953-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
594

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:594

UCSC genome browser

More...
UCSCi
uc003pjd.3 human [P21953-1]

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
M55575 mRNA Translation: AAA51812.1
D90391 Genomic DNA Translation: BAA14389.1
AK289977 mRNA Translation: BAF82666.1
BT020063 mRNA Translation: AAV38866.1
AL049696 Genomic DNA No translation available.
AL391595 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48696.1
CH471051 Genomic DNA Translation: EAW48697.1
CH471051 Genomic DNA Translation: EAW48698.1
BC034481 mRNA Translation: AAH34481.1
BC040139 mRNA Translation: AAH40139.1
U50708 mRNA Translation: AAB16763.1
X52446 mRNA Translation: CAA36685.1
CCDSiCCDS4994.1 [P21953-1]
PIRiA37157
RefSeqiNP_000047.1, NM_000056.4 [P21953-1]
NP_001305904.1, NM_001318975.1
NP_898871.1, NM_183050.3 [P21953-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
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
1DTWX-ray2.70B51-392[»]
1OLSX-ray1.85B51-392[»]
1OLUX-ray1.90B51-392[»]
1OLXX-ray2.25B51-392[»]
1U5BX-ray1.83B51-392[»]
1V11X-ray1.95B51-392[»]
1V16X-ray1.90B51-392[»]
1V1MX-ray2.00B51-392[»]
1V1RX-ray1.80B51-392[»]
1WCIX-ray1.84B51-392[»]
1X7WX-ray1.73B51-392[»]
1X7XX-ray2.10B51-392[»]
1X7YX-ray1.57B51-392[»]
1X7ZX-ray1.72B51-392[»]
1X80X-ray2.00B51-392[»]
2BEUX-ray1.89B51-392[»]
2BEVX-ray1.80B51-392[»]
2BEWX-ray1.79B51-392[»]
2BFBX-ray1.77B51-392[»]
2BFCX-ray1.64B51-392[»]
2BFDX-ray1.39B51-392[»]
2BFEX-ray1.69B51-392[»]
2BFFX-ray1.46B51-392[»]
2J9FX-ray1.88B/D51-392[»]
SMRiP21953
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi107066, 25 interactors
DIPiDIP-6147N
IntActiP21953, 17 interactors
STRINGi9606.ENSP00000318351

PTM databases

iPTMnetiP21953
PhosphoSitePlusiP21953

Polymorphism and mutation databases

BioMutaiBCKDHB
DMDMi129034

2D gel databases

REPRODUCTION-2DPAGEiIPI00011276

Proteomic databases

EPDiP21953
jPOSTiP21953
MassIVEiP21953
PaxDbiP21953
PeptideAtlasiP21953
PRIDEiP21953
ProteomicsDBi53944 [P21953-1]
64342
TopDownProteomicsiP21953-1 [P21953-1]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
594

Genome annotation databases

EnsembliENST00000320393; ENSP00000318351; ENSG00000083123 [P21953-1]
ENST00000356489; ENSP00000348880; ENSG00000083123 [P21953-1]
ENST00000369760; ENSP00000358775; ENSG00000083123 [P21953-2]
GeneIDi594
KEGGihsa:594
UCSCiuc003pjd.3 human [P21953-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
594
DisGeNETi594

GeneCards: human genes, protein and diseases

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GeneCardsi
BCKDHB
GeneReviewsiBCKDHB
HGNCiHGNC:987 BCKDHB
HPAiHPA031580
MalaCardsiBCKDHB
MIMi248600 phenotype
248611 gene
neXtProtiNX_P21953
OpenTargetsiENSG00000083123
Orphaneti268145 Classic maple syrup urine disease
268162 Intermediate maple syrup urine disease
268173 Intermittent maple syrup urine disease
268184 Thiamine-responsive maple syrup urine disease
PharmGKBiPA25298

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0525 Eukaryota
COG0022 LUCA
GeneTreeiENSGT00940000156533
HOGENOMiHOG000281451
InParanoidiP21953
KOiK00167
OMAiVQERCFH
OrthoDBi1200844at2759
PhylomeDBiP21953
TreeFamiTF105947

Enzyme and pathway databases

BioCyciMetaCyc:MONOMER-12006
ReactomeiR-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-70895 Branched-chain amino acid catabolism
SABIO-RKiP21953

Miscellaneous databases

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

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ChiTaRSi
BCKDHB human
EvolutionaryTraceiP21953

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
BCKDHB

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

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GenomeRNAii
594
PharosiP21953

Protein Ontology

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PROi
PR:P21953

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000083123 Expressed in 195 organ(s), highest expression level in right lobe of liver
ExpressionAtlasiP21953 baseline and differential
GenevisibleiP21953 HS

Family and domain databases

Gene3Di3.40.50.920, 1 hit
InterProiView protein in InterPro
IPR029061 THDP-binding
IPR009014 Transketo_C/PFOR_II
IPR005475 Transketolase-like_Pyr-bd
IPR033248 Transketolase_C
PfamiView protein in Pfam
PF02779 Transket_pyr, 1 hit
PF02780 Transketolase_C, 1 hit
SMARTiView protein in SMART
SM00861 Transket_pyr, 1 hit
SUPFAMiSSF52518 SSF52518, 1 hit
SSF52922 SSF52922, 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 nameiODBB_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: P21953
Secondary accession number(s): Q5T2J3, Q9BQL0
<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: August 1, 1991
Last sequence update: August 1, 1992
Last modified: September 18, 2019
This is version 205 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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