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Protein

Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

Gene

DBT

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). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component.

<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

(R)-lipoateNote: Binds 1 lipoyl cofactor covalently.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei452Sequence analysis1
Active sitei456Sequence analysis1

<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

  • acetyltransferase activity Source: GO_Central
  • dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity Source: UniProtKB-EC
  • lipoic acid binding Source: GO_Central
  • ubiquitin protein ligase binding Source: ParkinsonsUK-UCL

<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 functionAcyltransferase, Transferase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:MONOMER-12007

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.3.1.168 2681

Reactome - a knowledgebase of biological pathways and processes

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

<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:
Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial (EC:2.3.1.168)
Alternative name(s):
52 kDa mitochondrial autoantigen of primary biliary cirrhosis1 Publication
Branched chain 2-oxo-acid dehydrogenase complex component E22 Publications
Short name:
BCOADC-E22 Publications
Branched-chain alpha-keto acid dehydrogenase complex component E2
Short name:
BCKAD-E2
Short name:
BCKADE2
Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex
Dihydrolipoamide branched chain transacylase
Dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
<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:DBT
Synonyms:BCATE2
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000137992.14

Human Gene Nomenclature Database

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HGNCi
HGNC:2698 DBT

Online Mendelian Inheritance in Man (OMIM)

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MIMi
248610 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P11182

<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

Patients with primary biliary cirrhosis (PBC) show autoantibodies against the E2 component of branched-chain alpha-keto acid dehydrogenase complex. PBC is a chronic, progressive cholestatic liver disease characterized by the presence of antimitochondrial autoantibodies in patients serum. It manifests with inflammatory obliteration of intra-hepatic bile duct, leading to liver cell damage and cirrhosis.3 Publications
Maple syrup urine disease 2 (MSUD2)2 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_01509998I → M in MSUD2. 1 Publication1
Natural variantiVAR_004978276F → C in MSUD2. 1 Publication1
Natural variantiVAR_015100384G → S in MSUD2. 2 PublicationsCorresponds to variant dbSNP:rs12021720EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Maple syrup urine disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
1629

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

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GeneReviewsi
DBT

MalaCards human disease database

More...
MalaCardsi
DBT
MIMi248600 phenotype

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
PA27167

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DBT

Domain mapping of disease mutations (DMDM)

More...
DMDMi
400668

<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 – 61MitochondrionSequence analysisAdd BLAST61
<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_000002048962 – 482Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrialAdd BLAST421

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 residuei105N6-lipoyllysinePROSITE-ProRule annotationBy similarity1
Modified residuei133N6-succinyllysineBy similarity1
Modified residuei196N6-acetyllysine; alternateBy similarity1
Modified residuei196N6-succinyllysine; alternateBy similarity1
Modified residuei202N6-acetyllysineBy similarity1
Modified residuei220PhosphoserineCombined sources1
Modified residuei243N6-acetyllysineBy similarity1
Modified residuei250N6-acetyllysineBy similarity1
Modified residuei261N6-succinyllysineBy similarity1
Modified residuei289N6-acetyllysine; alternateBy similarity1
Modified residuei289N6-succinyllysine; alternateBy similarity1
Modified residuei295N6-acetyllysineCombined sources1
Modified residuei304N6-acetyllysineBy similarity1
Modified residuei435N6-acetyllysineBy similarity1
Modified residuei440N6-acetyllysine; alternateBy similarity1
Modified residuei440N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P11182

MaxQB - The MaxQuant DataBase

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MaxQBi
P11182

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

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PaxDbi
P11182

PeptideAtlas

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PeptideAtlasi
P11182

PRoteomics IDEntifications database

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PRIDEi
P11182

ProteomicsDB human proteome resource

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ProteomicsDBi
52718

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P11182

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

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PhosphoSitePlusi
P11182

SwissPalm database of S-palmitoylation events

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SwissPalmi
P11182

<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

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Bgeei
ENSG00000137992 Expressed in 242 organ(s), highest expression level in amniotic fluid

CleanEx database of gene expression profiles

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CleanExi
HS_DBT

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P11182 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P11182 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA026481
HPA026485
HPA026533

<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

Forms a 24-polypeptide structural core with octahedral symmetry.

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107997, 65 interactors

Protein interaction database and analysis system

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IntActi
P11182, 24 interactors

Molecular INTeraction database

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MINTi
P11182

STRING: functional protein association networks

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STRINGi
9606.ENSP00000359151

<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

1482
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P11182

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

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SMRi
P11182

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P11182

<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>Domaini64 – 139Lipoyl-bindingPROSITE-ProRule annotationAdd BLAST76
Domaini172 – 209Peripheral subunit-binding (PSBD)PROSITE-ProRule annotationAdd BLAST38

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

Belongs to the 2-oxoacid dehydrogenase family.Curated

Keywords - Domaini

Lipoyl, Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0558 Eukaryota
COG0508 LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000281564

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG104085

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P11182

KEGG Orthology (KO)

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KOi
K09699

Database of Orthologous Groups

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OrthoDBi
EOG091G0FJ3

Database for complete collections of gene phylogenies

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PhylomeDBi
P11182

TreeFam database of animal gene trees

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TreeFami
TF314182

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.559.10, 1 hit
4.10.320.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003016 2-oxoA_DH_lipoyl-BS
IPR001078 2-oxoacid_DH_actylTfrase
IPR015761 BCKADH_E2
IPR000089 Biotin_lipoyl
IPR023213 CAT-like_dom_sf
IPR036625 E3-bd_dom_sf
IPR004167 PSBD
IPR011053 Single_hybrid_motif

The PANTHER Classification System

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PANTHERi
PTHR43178:SF5 PTHR43178:SF5, 1 hit

Pfam protein domain database

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

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47005 SSF47005, 1 hit
SSF51230 SSF51230, 1 hit

PROSITE; a protein domain and family database

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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P11182-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAVRMLRTW SRNAGKLICV RYFQTCGNVH VLKPNYVCFF GYPSFKYSHP
60 70 80 90 100
HHFLKTTAAL RGQVVQFKLS DIGEGIREVT VKEWYVKEGD TVSQFDSICE
110 120 130 140 150
VQSDKASVTI TSRYDGVIKK LYYNLDDIAY VGKPLVDIET EALKDSEEDV
160 170 180 190 200
VETPAVSHDE HTHQEIKGRK TLATPAVRRL AMENNIKLSE VVGSGKDGRI
210 220 230 240 250
LKEDILNYLE KQTGAILPPS PKVEIMPPPP KPKDMTVPIL VSKPPVFTGK
260 270 280 290 300
DKTEPIKGFQ KAMVKTMSAA LKIPHFGYCD EIDLTELVKL REELKPIAFA
310 320 330 340 350
RGIKLSFMPF FLKAASLGLL QFPILNASVD ENCQNITYKA SHNIGIAMDT
360 370 380 390 400
EQGLIVPNVK NVQICSIFDI ATELNRLQKL GSVGQLSTTD LTGGTFTLSN
410 420 430 440 450
IGSIGGTFAK PVIMPPEVAI GALGSIKAIP RFNQKGEVYK AQIMNVSWSA
460 470 480
DHRVIDGATM SRFSNLWKSY LENPAFMLLD LK
Length:482
Mass (Da):53,487
Last modified:July 1, 1993 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA7CA728C8F33D126
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5VVL7Q5VVL7_HUMAN
Dihydrolipoamide acetyltransferase ...
DBT
320Annotation 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>

<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 AAA35589 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAA64512 differs from that shown. Reason: Erroneous initiation.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 conflicti321Q → P in AAA64512 (PubMed:2742576).Curated1
Sequence conflicti354L → V in AAA64512 (PubMed:2742576).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01509998I → M in MSUD2. 1 Publication1
Natural variantiVAR_004978276F → C in MSUD2. 1 Publication1
Natural variantiVAR_015100384G → S in MSUD2. 2 PublicationsCorresponds to variant dbSNP:rs12021720EnsemblClinVar.1

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
X66785 mRNA Translation: CAA47285.1
J03208 mRNA Translation: AAA35589.1 Different initiation.
M27093 mRNA Translation: AAA64512.1 Different initiation.
BT007372 mRNA Translation: AAP36036.1
AL445928 Genomic DNA No translation available.
AK313191 mRNA Translation: BAG36008.1
CH471097 Genomic DNA Translation: EAW72963.1
BC016675 mRNA Translation: AAH16675.1
M19301 mRNA Translation: AAA59200.1 Sequence problems.
X68104 Genomic DNA Translation: CAA48225.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS767.1

Protein sequence database of the Protein Information Resource

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PIRi
A32422

NCBI Reference Sequences

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RefSeqi
NP_001909.3, NM_001918.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.709187

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000370132; ENSP00000359151; ENSG00000137992

Database of genes from NCBI RefSeq genomes

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GeneIDi
1629

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1629

UCSC genome browser

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UCSCi
uc001dta.4 human

<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
X66785 mRNA Translation: CAA47285.1
J03208 mRNA Translation: AAA35589.1 Different initiation.
M27093 mRNA Translation: AAA64512.1 Different initiation.
BT007372 mRNA Translation: AAP36036.1
AL445928 Genomic DNA No translation available.
AK313191 mRNA Translation: BAG36008.1
CH471097 Genomic DNA Translation: EAW72963.1
BC016675 mRNA Translation: AAH16675.1
M19301 mRNA Translation: AAA59200.1 Sequence problems.
X68104 Genomic DNA Translation: CAA48225.1
CCDSiCCDS767.1
PIRiA32422
RefSeqiNP_001909.3, NM_001918.3
UniGeneiHs.709187

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1K8MNMR-A62-145[»]
1K8ONMR-A62-145[»]
1ZWVNMR-A165-213[»]
2COONMR-A163-220[»]
3RNMX-ray2.40E/F165-213[»]
ProteinModelPortaliP11182
SMRiP11182
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107997, 65 interactors
IntActiP11182, 24 interactors
MINTiP11182
STRINGi9606.ENSP00000359151

PTM databases

iPTMnetiP11182
PhosphoSitePlusiP11182
SwissPalmiP11182

Polymorphism and mutation databases

BioMutaiDBT
DMDMi400668

Proteomic databases

EPDiP11182
MaxQBiP11182
PaxDbiP11182
PeptideAtlasiP11182
PRIDEiP11182
ProteomicsDBi52718

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
1629
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370132; ENSP00000359151; ENSG00000137992
GeneIDi1629
KEGGihsa:1629
UCSCiuc001dta.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1629
DisGeNETi1629
EuPathDBiHostDB:ENSG00000137992.14

GeneCards: human genes, protein and diseases

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GeneCardsi
DBT
GeneReviewsiDBT

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0000815
HGNCiHGNC:2698 DBT
HPAiHPA026481
HPA026485
HPA026533
MalaCardsiDBT
MIMi248600 phenotype
248610 gene
neXtProtiNX_P11182
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
PharmGKBiPA27167

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0558 Eukaryota
COG0508 LUCA
HOGENOMiHOG000281564
HOVERGENiHBG104085
InParanoidiP11182
KOiK09699
OrthoDBiEOG091G0FJ3
PhylomeDBiP11182
TreeFamiTF314182

Enzyme and pathway databases

BioCyciMetaCyc:MONOMER-12007
BRENDAi2.3.1.168 2681
ReactomeiR-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-70895 Branched-chain amino acid catabolism

Miscellaneous databases

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

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ChiTaRSi
DBT human
EvolutionaryTraceiP11182

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DBT_(gene)

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

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GenomeRNAii
1629

Protein Ontology

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PROi
PR:P11182

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000137992 Expressed in 242 organ(s), highest expression level in amniotic fluid
CleanExiHS_DBT
ExpressionAtlasiP11182 baseline and differential
GenevisibleiP11182 HS

Family and domain databases

Gene3Di3.30.559.10, 1 hit
4.10.320.10, 1 hit
InterProiView protein in InterPro
IPR003016 2-oxoA_DH_lipoyl-BS
IPR001078 2-oxoacid_DH_actylTfrase
IPR015761 BCKADH_E2
IPR000089 Biotin_lipoyl
IPR023213 CAT-like_dom_sf
IPR036625 E3-bd_dom_sf
IPR004167 PSBD
IPR011053 Single_hybrid_motif
PANTHERiPTHR43178:SF5 PTHR43178:SF5, 1 hit
PfamiView protein in Pfam
PF00198 2-oxoacid_dh, 1 hit
PF00364 Biotin_lipoyl, 1 hit
PF02817 E3_binding, 1 hit
SUPFAMiSSF47005 SSF47005, 1 hit
SSF51230 SSF51230, 1 hit
PROSITEiView protein in PROSITE
PS50968 BIOTINYL_LIPOYL, 1 hit
PS00189 LIPOYL, 1 hit
PS51826 PSBD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiODB2_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: P11182
Secondary accession number(s): B2R811, Q5VVL8
<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 1, 1989
Last sequence update: July 1, 1993
Last modified: December 5, 2018
This is version 227 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

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

Documents

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