Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

Gene

BCKDHA

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).

Miscellaneous

Bound potassium ions stabilize the protein structure.

<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 provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

thiamine diphosphate1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi206Potassium1 Publication1
Metal bindingi211Potassium1 Publication1
Metal bindingi212Potassium1 Publication1

<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

  • 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity Source: ProtInc
  • alpha-ketoacid dehydrogenase activity Source: HGNC
  • carboxy-lyase activity Source: HGNC
  • metal ion binding Source: UniProtKB-KW

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
LigandMetal-binding, Potassium, Thiamine pyrophosphate

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:MONOMER-12005

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
P12694

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P12694

<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 alpha, mitochondrial (EC:1.2.4.4)
Alternative name(s):
Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain
Short name:
BCKDE1A
Short name:
BCKDH E1-alpha
<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:BCKDHA
<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 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000248098.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:986 BCKDHA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608348 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P12694

<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

Maple syrup urine disease 1A (MSUD1A)9 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.
See also OMIM:248600
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_004968159R → W in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs769688327EnsemblClinVar.1
Natural variantiVAR_004969190Q → K in MSUD1A. 1 Publication1
Natural variantiVAR_069748211T → M in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs398123503EnsemblClinVar.1
Natural variantiVAR_069749220A → V in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs375785084EnsemblClinVar.1
Natural variantiVAR_004970253A → T in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs199599175EnsemblClinVar.1
Natural variantiVAR_015101290G → R in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs137852871EnsemblClinVar.1
Natural variantiVAR_004971326I → T in MSUD1A. 1 Publication1
Natural variantiVAR_069750346R → C in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs182923857EnsemblClinVar.1
Natural variantiVAR_069751403P → PKP in MSUD1A. 1
Natural variantiVAR_015102409F → C in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs137852872EnsemblClinVar.1
Natural variantiVAR_004972413Y → C in MSUD1A. 1 Publication1
Natural variantiVAR_069752427 – 428LA → P in MSUD1A. 1 Publication2
Natural variantiVAR_004973438Y → N in MSUD1A; impedes assembly of the E1 component. 5 PublicationsCorresponds to variant dbSNP:rs137852870EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Maple syrup urine disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
593

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

More...
GeneReviewsi
BCKDHA

MalaCards human disease database

More...
MalaCardsi
BCKDHA
MIMi248600 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000248098

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
PA25297

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BCKDHA

<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 – 45Mitochondrion1 PublicationAdd BLAST45
<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_000002046546 – 4452-oxoisovalerate dehydrogenase subunit alpha, mitochondrialAdd BLAST400

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 residuei337PhosphoserineBy similarity1
Modified residuei338PhosphothreonineBy similarity1
Modified residuei339PhosphoserineBy similarity1
Modified residuei347PhosphoserineBy similarity1
Modified residuei356N6-acetyllysine; alternateBy similarity1
Modified residuei356N6-succinyllysine; alternateBy similarity1
Modified residuei380N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P12694

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P12694

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P12694

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

More...
PaxDbi
P12694

PeptideAtlas

More...
PeptideAtlasi
P12694

PRoteomics IDEntifications database

More...
PRIDEi
P12694

ProteomicsDB human proteome resource

More...
ProteomicsDBi
52863

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P12694

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

More...
PhosphoSitePlusi
P12694

<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
ENSG00000248098 Expressed in 91 organ(s), highest expression level in heart

CleanEx database of gene expression profiles

More...
CleanExi
HS_BCKDHA

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P12694 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P12694 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036640

<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 alpha and beta chains.1 Publication

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107065, 30 interactors

Database of interacting proteins

More...
DIPi
DIP-6146N

Protein interaction database and analysis system

More...
IntActi
P12694, 26 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000269980

<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

1445
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1DTWX-ray2.70A46-445[»]
1OLSX-ray1.85A46-445[»]
1OLUX-ray1.90A46-445[»]
1OLXX-ray2.25A46-445[»]
1U5BX-ray1.83A46-445[»]
1V11X-ray1.95A46-445[»]
1V16X-ray1.90A46-445[»]
1V1MX-ray2.00A46-445[»]
1V1RX-ray1.80A46-445[»]
1WCIX-ray1.84A46-445[»]
1X7WX-ray1.73A46-445[»]
1X7XX-ray2.10A46-445[»]
1X7YX-ray1.57A46-445[»]
1X7ZX-ray1.72A46-445[»]
1X80X-ray2.00A46-445[»]
2BEUX-ray1.89A46-445[»]
2BEVX-ray1.80A46-445[»]
2BEWX-ray1.79A46-445[»]
2BFBX-ray1.77A46-445[»]
2BFCX-ray1.64A46-445[»]
2BFDX-ray1.39A46-445[»]
2BFEX-ray1.69A46-445[»]
2BFFX-ray1.46A46-445[»]
2J9FX-ray1.88A/C46-445[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P12694

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

More...
SMRi
P12694

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P12694

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni157 – 159Thiamine pyrophosphate binding1 Publication3

<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 BCKDHA family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1182 Eukaryota
COG1071 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063174

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000281337

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG002459

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P12694

KEGG Orthology (KO)

More...
KOi
K00166

Database of Orthologous Groups

More...
OrthoDBi
623111at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P12694

TreeFam database of animal gene trees

More...
TreeFami
TF300863

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR034616 BCKDH_E1-a
IPR001017 DH_E1
IPR029061 THDP-binding

The PANTHER Classification System

More...
PANTHERi
PTHR43380:SF1 PTHR43380:SF1, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00676 E1_dh, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52518 SSF52518, 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

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P12694-1) [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
MAVAIAAARV WRLNRGLSQA ALLLLRQPGA RGLARSHPPR QQQQFSSLDD
60 70 80 90 100
KPQFPGASAE FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE
110 120 130 140 150
KVLKLYKSMT LLNTMDRILY ESQRQGRISF YMTNYGEEGT HVGSAAALDN
160 170 180 190 200
TDLVFGQYRE AGVLMYRDYP LELFMAQCYG NISDLGKGRQ MPVHYGCKER
210 220 230 240 250
HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA ASEGDAHAGF
260 270 280 290 300
NFAATLECPI IFFCRNNGYA ISTPTSEQYR GDGIAARGPG YGIMSIRVDG
310 320 330 340 350
NDVFAVYNAT KEARRRAVAE NQPFLIEAMT YRIGHHSTSD DSSAYRSVDE
360 370 380 390 400
VNYWDKQDHP ISRLRHYLLS QGWWDEEQEK AWRKQSRRKV MEAFEQAERK
410 420 430 440
PKPNPNLLFS DVYQEMPAQL RKQQESLARH LQTYGEHYPL DHFDK
Length:445
Mass (Da):50,471
Last modified:June 1, 1994 - 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:i2B4DD658924DB0C3
GO
Isoform 2 (identifier: P12694-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     19-40: Missing.
     331-331: Y → YSSSPILPPDPHSREPTLTWGPLPLC

Note: No experimental confirmation available.
Show »
Length:448
Mass (Da):50,790
Checksum:i25C9E70619832776
GO

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

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GXU9F5GXU9_HUMAN
2-oxoisovalerate dehydrogenase subu...
BCKDHA
328Annotation 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>
H0YH31H0YH31_HUMAN
2-oxoisovalerate dehydrogenase subu...
BCKDHA
211Annotation 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>
H0YH20H0YH20_HUMAN
2-oxoisovalerate dehydrogenase subu...
BCKDHA
94Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB59549 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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 conflicti3V → G in AAB20222 (PubMed:2060625).Curated1
Sequence conflicti3V → G in AAB19268 (PubMed:2060625).Curated1
Sequence conflicti36S → A in AAB59549 (PubMed:2914958).Curated1
Sequence conflicti248A → D in AAA35590 (PubMed:3224821).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03436039P → H. Corresponds to variant dbSNP:rs11549936EnsemblClinVar.1
Natural variantiVAR_034361151T → M. Corresponds to variant dbSNP:rs34442879EnsemblClinVar.1
Natural variantiVAR_004968159R → W in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs769688327EnsemblClinVar.1
Natural variantiVAR_004969190Q → K in MSUD1A. 1 Publication1
Natural variantiVAR_069748211T → M in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs398123503EnsemblClinVar.1
Natural variantiVAR_069749220A → V in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs375785084EnsemblClinVar.1
Natural variantiVAR_004970253A → T in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs199599175EnsemblClinVar.1
Natural variantiVAR_015101290G → R in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs137852871EnsemblClinVar.1
Natural variantiVAR_004971326I → T in MSUD1A. 1 Publication1
Natural variantiVAR_069750346R → C in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs182923857EnsemblClinVar.1
Natural variantiVAR_069751403P → PKP in MSUD1A. 1
Natural variantiVAR_015102409F → C in MSUD1A. 1 PublicationCorresponds to variant dbSNP:rs137852872EnsemblClinVar.1
Natural variantiVAR_004972413Y → C in MSUD1A. 1 Publication1
Natural variantiVAR_069752427 – 428LA → P in MSUD1A. 1 Publication2
Natural variantiVAR_004973438Y → N in MSUD1A; impedes assembly of the E1 component. 5 PublicationsCorresponds to variant dbSNP:rs137852870EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. 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_05615619 – 40Missing in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_056157331Y → YSSSPILPPDPHSREPTLTW GPLPLC in isoform 2. 1 Publication1

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
Z14093 mRNA Translation: CAA78475.1
AK298188 mRNA Translation: BAG60459.1
AC011462 Genomic DNA No translation available.
BC007878 mRNA Translation: AAH07878.1
BC008933 mRNA Translation: AAH08933.1
BC023983 mRNA Translation: AAH23983.1
J04474 mRNA Translation: AAB59549.1 Different initiation.
AH003771 Genomic DNA Translation: AAB20222.2
AH003707 Genomic DNA Translation: AAB19268.2
M22221 mRNA Translation: AAA35590.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12581.1 [P12694-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
S27156 DEHUXA

NCBI Reference Sequences

More...
RefSeqi
NP_000700.1, NM_000709.3 [P12694-1]
NP_001158255.1, NM_001164783.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.433307

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000269980; ENSP00000269980; ENSG00000248098 [P12694-1]
ENST00000457836; ENSP00000416000; ENSG00000248098 [P12694-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
593

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:593

UCSC genome browser

More...
UCSCi
uc002oqq.4 human [P12694-1]

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
Z14093 mRNA Translation: CAA78475.1
AK298188 mRNA Translation: BAG60459.1
AC011462 Genomic DNA No translation available.
BC007878 mRNA Translation: AAH07878.1
BC008933 mRNA Translation: AAH08933.1
BC023983 mRNA Translation: AAH23983.1
J04474 mRNA Translation: AAB59549.1 Different initiation.
AH003771 Genomic DNA Translation: AAB20222.2
AH003707 Genomic DNA Translation: AAB19268.2
M22221 mRNA Translation: AAA35590.1
CCDSiCCDS12581.1 [P12694-1]
PIRiS27156 DEHUXA
RefSeqiNP_000700.1, NM_000709.3 [P12694-1]
NP_001158255.1, NM_001164783.1
UniGeneiHs.433307

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1DTWX-ray2.70A46-445[»]
1OLSX-ray1.85A46-445[»]
1OLUX-ray1.90A46-445[»]
1OLXX-ray2.25A46-445[»]
1U5BX-ray1.83A46-445[»]
1V11X-ray1.95A46-445[»]
1V16X-ray1.90A46-445[»]
1V1MX-ray2.00A46-445[»]
1V1RX-ray1.80A46-445[»]
1WCIX-ray1.84A46-445[»]
1X7WX-ray1.73A46-445[»]
1X7XX-ray2.10A46-445[»]
1X7YX-ray1.57A46-445[»]
1X7ZX-ray1.72A46-445[»]
1X80X-ray2.00A46-445[»]
2BEUX-ray1.89A46-445[»]
2BEVX-ray1.80A46-445[»]
2BEWX-ray1.79A46-445[»]
2BFBX-ray1.77A46-445[»]
2BFCX-ray1.64A46-445[»]
2BFDX-ray1.39A46-445[»]
2BFEX-ray1.69A46-445[»]
2BFFX-ray1.46A46-445[»]
2J9FX-ray1.88A/C46-445[»]
ProteinModelPortaliP12694
SMRiP12694
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107065, 30 interactors
DIPiDIP-6146N
IntActiP12694, 26 interactors
STRINGi9606.ENSP00000269980

PTM databases

iPTMnetiP12694
PhosphoSitePlusiP12694

Polymorphism and mutation databases

BioMutaiBCKDHA

Proteomic databases

EPDiP12694
jPOSTiP12694
MaxQBiP12694
PaxDbiP12694
PeptideAtlasiP12694
PRIDEiP12694
ProteomicsDBi52863

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269980; ENSP00000269980; ENSG00000248098 [P12694-1]
ENST00000457836; ENSP00000416000; ENSG00000248098 [P12694-2]
GeneIDi593
KEGGihsa:593
UCSCiuc002oqq.4 human [P12694-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
593
DisGeNETi593
EuPathDBiHostDB:ENSG00000248098.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BCKDHA
GeneReviewsiBCKDHA
HGNCiHGNC:986 BCKDHA
HPAiHPA036640
MalaCardsiBCKDHA
MIMi248600 phenotype
608348 gene
neXtProtiNX_P12694
OpenTargetsiENSG00000248098
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
PharmGKBiPA25297

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1182 Eukaryota
COG1071 LUCA
GeneTreeiENSGT00530000063174
HOGENOMiHOG000281337
HOVERGENiHBG002459
InParanoidiP12694
KOiK00166
OrthoDBi623111at2759
PhylomeDBiP12694
TreeFamiTF300863

Enzyme and pathway databases

BioCyciMetaCyc:MONOMER-12005
ReactomeiR-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-70895 Branched-chain amino acid catabolism
SABIO-RKiP12694
SIGNORiP12694

Miscellaneous databases

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

More...
ChiTaRSi
BCKDHA human
EvolutionaryTraceiP12694

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
BCKDHA

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

More...
GenomeRNAii
593

Protein Ontology

More...
PROi
PR:P12694

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000248098 Expressed in 91 organ(s), highest expression level in heart
CleanExiHS_BCKDHA
ExpressionAtlasiP12694 baseline and differential
GenevisibleiP12694 HS

Family and domain databases

InterProiView protein in InterPro
IPR034616 BCKDH_E1-a
IPR001017 DH_E1
IPR029061 THDP-binding
PANTHERiPTHR43380:SF1 PTHR43380:SF1, 1 hit
PfamiView protein in Pfam
PF00676 E1_dh, 1 hit
SUPFAMiSSF52518 SSF52518, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiODBA_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: P12694
Secondary accession number(s): B4DP47
, E7EW46, Q16034, Q16472
<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: October 1, 1989
Last sequence update: June 1, 1994
Last modified: January 16, 2019
This is version 219 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again