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Entry version 198 (16 Oct 2019)
Sequence version 3 (17 Oct 2006)
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Protein

Trifunctional enzyme subunit beta, mitochondrial

Gene

HADHB

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

Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway (PubMed:8135828, PubMed:29915090, PubMed:30850536). The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA (PubMed:29915090). Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long-chain fatty acids (PubMed:30850536). Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional enzyme subunit alpha/HADHA carries the 2,3-enoyl-CoA hydratase and the 3-hydroxyacyl-CoA dehydrogenase activities, while the trifunctional enzyme subunit beta/HADHB described here bears the 3-ketoacyl-CoA thiolase activity (PubMed:8135828, PubMed:29915090, PubMed:30850536).2 Publications3 Publications

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: fatty acid beta-oxidation

This protein is involved in the pathway fatty acid beta-oxidation, which is part of Lipid metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway fatty acid beta-oxidation and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei138Acyl-thioester intermediate1 Publication1
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei428Increases nucleophilicity of active site Cys1 Publication1
Active sitei458Proton donor/acceptor1 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

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 functionAcyltransferase, Transferase
Biological processFatty acid metabolism, Lipid metabolism

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS06436-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1482798 Acyl chain remodeling of CL
R-HSA-77285 Beta oxidation of myristoyl-CoA to lauroyl-CoA
R-HSA-77288 mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
R-HSA-77305 Beta oxidation of palmitoyl-CoA to myristoyl-CoA
R-HSA-77310 Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
R-HSA-77346 Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
R-HSA-77348 Beta oxidation of octanoyl-CoA to hexanoyl-CoA
R-HSA-77350 Beta oxidation of hexanoyl-CoA to butanoyl-CoA

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00659

Protein family/group databases

MoonProt database of moonlighting proteins

More...
MoonProti
P55084

<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:
Trifunctional enzyme subunit beta, mitochondrial
Alternative name(s):
TP-beta
Including the following 1 domains:
3-ketoacyl-CoA thiolase (EC:2.3.1.1554 Publications, EC:2.3.1.165 Publications)
Alternative name(s):
Acetyl-CoA acyltransferase
Beta-ketothiolase
<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:HADHB
ORF Names:MSTP029
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4803 HADHB

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
143450 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P55084

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei173 – 2201 PublicationAdd BLAST48

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion, Mitochondrion inner membrane, Mitochondrion outer membrane

<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

Mitochondrial trifunctional protein deficiency (MTPD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction, respiratory failure. Sudden infant death may occur. Most patients die from heart failure.
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_02112859G → D in MTPD. 1 Publication1
Natural variantiVAR_02112961R → C in MTPD. 1 PublicationCorresponds to variant dbSNP:rs780351691EnsemblClinVar.1
Natural variantiVAR_00749361R → H in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913132EnsemblClinVar.1
Natural variantiVAR_021130117R → G in MTPD. 1 Publication1
Natural variantiVAR_021131121L → P in MTPD. 1 PublicationCorresponds to variant dbSNP:rs773127211Ensembl.1
Natural variantiVAR_021132133T → P in MTPD. 1 PublicationCorresponds to variant dbSNP:rs371159065Ensembl.1
Natural variantiVAR_021133242D → G in MTPD. 1 PublicationCorresponds to variant dbSNP:rs1166120479Ensembl.1
Natural variantiVAR_007494247R → H in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913133EnsemblClinVar.1
Natural variantiVAR_021134259 – 270Missing in MTPD. 1 PublicationAdd BLAST12
Natural variantiVAR_007495263D → G in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913131EnsemblClinVar.1
Natural variantiVAR_021135280G → D in MTPD. 1 PublicationCorresponds to variant dbSNP:rs751772298Ensembl.1
Natural variantiVAR_021136294P → L in MTPD. 1 Publication1
Natural variantiVAR_021137294P → R in MTPD. 1 Publication1
Natural variantiVAR_021138301G → S in MTPD. 1 PublicationCorresponds to variant dbSNP:rs891954464Ensembl.1
Natural variantiVAR_017409444R → K in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913134EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3032

MalaCards human disease database

More...
MalaCardsi
HADHB
MIMi609015 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000138029

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

More...
Orphaneti
746 Mitochondrial trifunctional protein deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29177

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P55084

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HADHB

Domain mapping of disease mutations (DMDM)

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DMDMi
116241345

<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 – 33MitochondrionCombined sources1 PublicationAdd BLAST33
<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_000003408034 – 474Trifunctional enzyme subunit beta, mitochondrialAdd BLAST441

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 residuei72N6-acetyllysine; alternateCombined sources1
Modified residuei72N6-succinyllysine; alternateBy similarity1
Modified residuei188N6-acetyllysine; alternateCombined sources1
Modified residuei188N6-succinyllysine; alternateBy similarity1
Modified residuei190N6-succinyllysineBy similarity1
Modified residuei272N6-succinyllysineBy similarity1
Modified residuei291N6-succinyllysineBy similarity1
Modified residuei293N6-acetyllysine; alternateBy similarity1
Modified residuei293N6-succinyllysine; alternateBy similarity1
Modified residuei298N6-acetyllysineBy similarity1
Modified residuei332N6-acetyllysine; alternateBy similarity1
Modified residuei332N6-succinyllysine; alternateBy similarity1
Modified residuei348N6-acetyllysineBy similarity1
Modified residuei361N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P55084

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P55084

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P55084

MaxQB - The MaxQuant DataBase

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MaxQBi
P55084

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

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PaxDbi
P55084

PeptideAtlas

More...
PeptideAtlasi
P55084

PRoteomics IDEntifications database

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PRIDEi
P55084

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
56786 [P55084-1]
5856

2D gel databases

University College Dublin 2-DE Proteome Database

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UCD-2DPAGEi
P55084

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P55084

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

More...
PhosphoSitePlusi
P55084

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P55084

<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
ENSG00000138029 Expressed in 237 organ(s), highest expression level in heart right ventricle

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P55084 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P55084 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA037539
HPA037540
HPA066099

<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/HADHA and 2 beta/HADHB subunits; forms the mitochondrial trifunctional enzyme (PubMed:29915090, PubMed:30850536). Also purified as higher order heterooligomers including a 4 alpha/HADHA and 4 beta/HADHB heterooligomer which physiological significance remains unclear (PubMed:8163672, PubMed:29915090).

Interacts with RSAD2/viperin (PubMed:21527675).

4 Publications

<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

WithEntry#Exp.IntActNotes
GABARAPL1Q9H0R84EBI-356635,EBI-746969

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109282, 113 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P55084

Protein interaction database and analysis system

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IntActi
P55084, 89 interactors

Molecular INTeraction database

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MINTi
P55084

STRING: functional protein association networks

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STRINGi
9606.ENSP00000325136

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

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

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SMRi
P55084

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<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

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1392 Eukaryota
COG0183 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182771

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000012240

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P55084

KEGG Orthology (KO)

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KOi
K07509

Identification of Orthologs from Complete Genome Data

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OMAi
MTAFPEP

Database of Orthologous Groups

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OrthoDBi
1627291at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P55084

TreeFam database of animal gene trees

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TreeFami
TF315243

Family and domain databases

Conserved Domains Database

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CDDi
cd00751 thiolase, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.47.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002155 Thiolase
IPR016039 Thiolase-like
IPR020615 Thiolase_acyl_enz_int_AS
IPR020610 Thiolase_AS
IPR020617 Thiolase_C
IPR020613 Thiolase_CS
IPR020616 Thiolase_N

Pfam protein domain database

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Pfami
View protein in Pfam
PF02803 Thiolase_C, 1 hit
PF00108 Thiolase_N, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53901 SSF53901, 2 hits

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01930 AcCoA-C-Actrans, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00098 THIOLASE_1, 1 hit
PS00737 THIOLASE_2, 1 hit
PS00099 THIOLASE_3, 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

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P55084-1) [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
MTILTYPFKN LPTASKWALR FSIRPLSCSS QLRAAPAVQT KTKKTLAKPN
60 70 80 90 100
IRNVVVVDGV RTPFLLSGTS YKDLMPHDLA RAALTGLLHR TSVPKEVVDY
110 120 130 140 150
IIFGTVIQEV KTSNVAREAA LGAGFSDKTP AHTVTMACIS ANQAMTTGVG
160 170 180 190 200
LIASGQCDVI VAGGVELMSD VPIRHSRKMR KLMLDLNKAK SMGQRLSLIS
210 220 230 240 250
KFRFNFLAPE LPAVSEFSTS ETMGHSADRL AAAFAVSRLE QDEYALRSHS
260 270 280 290 300
LAKKAQDEGL LSDVVPFKVP GKDTVTKDNG IRPSSLEQMA KLKPAFIKPY
310 320 330 340 350
GTVTAANSSF LTDGASAMLI MAEEKALAMG YKPKAYLRDF MYVSQDPKDQ
360 370 380 390 400
LLLGPTYATP KVLEKAGLTM NDIDAFEFHE AFSGQILANF KAMDSDWFAE
410 420 430 440 450
NYMGRKTKVG LPPLEKFNNW GGSLSLGHPF GATGCRLVMA AANRLRKEGG
460 470
QYGLVAACAA GGQGHAMIVE AYPK
Length:474
Mass (Da):51,294
Last modified:October 17, 2006 - 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:iA7B41C37BEC1E6AD
GO
Isoform 2 (identifier: P55084-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: MTILTYPFKNLPTASKWALRFSIRPLSCSSQLRAAP → MTLVSGWLLYGWII

Note: No experimental confirmation available.
Show »
Length:452
Mass (Da):48,880
Checksum:i3633B6AE6528FC78
GO

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

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GZQ3F5GZQ3_HUMAN
Trifunctional enzyme subunit beta, ...
HADHB
459Annotation 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>
B5MD38B5MD38_HUMAN
Trifunctional enzyme subunit beta, ...
HADHB
351Annotation 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>
C9JE81C9JE81_HUMAN
Trifunctional enzyme subunit beta, ...
HADHB
175Annotation 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>
C9JEY0C9JEY0_HUMAN
Trifunctional enzyme subunit beta, ...
HADHB
149Annotation 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>
C9K0M0C9K0M0_HUMAN
Trifunctional enzyme subunit beta, ...
HADHB
84Annotation 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 BAA22061 differs from that shown. Reason: Erroneous gene model prediction.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 conflicti1M → MT in AAG39280 (Ref. 3) Curated1
Sequence conflicti1M → MT in AAH14572 (PubMed:15489334).Curated1
Sequence conflicti1M → MT in AAH17564 (PubMed:15489334).Curated1
Sequence conflicti1M → MT in AAH30824 (PubMed:15489334).Curated1
Sequence conflicti1M → MT in AAH66963 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02112859G → D in MTPD. 1 Publication1
Natural variantiVAR_02112961R → C in MTPD. 1 PublicationCorresponds to variant dbSNP:rs780351691EnsemblClinVar.1
Natural variantiVAR_00749361R → H in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913132EnsemblClinVar.1
Natural variantiVAR_021130117R → G in MTPD. 1 Publication1
Natural variantiVAR_035705119A → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_021131121L → P in MTPD. 1 PublicationCorresponds to variant dbSNP:rs773127211Ensembl.1
Natural variantiVAR_021132133T → P in MTPD. 1 PublicationCorresponds to variant dbSNP:rs371159065Ensembl.1
Natural variantiVAR_028231209P → S1 PublicationCorresponds to variant dbSNP:rs17851200Ensembl.1
Natural variantiVAR_021133242D → G in MTPD. 1 PublicationCorresponds to variant dbSNP:rs1166120479Ensembl.1
Natural variantiVAR_007494247R → H in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913133EnsemblClinVar.1
Natural variantiVAR_021134259 – 270Missing in MTPD. 1 PublicationAdd BLAST12
Natural variantiVAR_007495263D → G in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913131EnsemblClinVar.1
Natural variantiVAR_061897277K → R. Corresponds to variant dbSNP:rs57969630EnsemblClinVar.1
Natural variantiVAR_021135280G → D in MTPD. 1 PublicationCorresponds to variant dbSNP:rs751772298Ensembl.1
Natural variantiVAR_021136294P → L in MTPD. 1 Publication1
Natural variantiVAR_021137294P → R in MTPD. 1 Publication1
Natural variantiVAR_021138301G → S in MTPD. 1 PublicationCorresponds to variant dbSNP:rs891954464Ensembl.1
Natural variantiVAR_017409444R → K in MTPD. 2 PublicationsCorresponds to variant dbSNP:rs121913134EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0544261 – 36MTILT…LRAAP → MTLVSGWLLYGWII in isoform 2. 1 PublicationAdd BLAST36

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
D16481 mRNA Translation: BAA03942.1
D86850 Genomic DNA Translation: BAA22061.1 Sequence problems.
AF113209 mRNA Translation: AAG39280.1
AK304455 mRNA Translation: BAG65272.1
AK314455 mRNA Translation: BAG37063.1
AC010896 Genomic DNA Translation: AAY14644.1
BC014572 mRNA Translation: AAH14572.1
BC017564 mRNA Translation: AAH17564.1
BC030824 mRNA Translation: AAH30824.1
BC066963 mRNA Translation: AAH66963.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1722.1 [P55084-1]
CCDS62872.1 [P55084-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
JC2109

NCBI Reference Sequences

More...
RefSeqi
NP_000174.1, NM_000183.2 [P55084-1]
NP_001268441.1, NM_001281512.1
NP_001268442.1, NM_001281513.1 [P55084-2]
XP_011531105.1, XM_011532803.1 [P55084-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000317799; ENSP00000325136; ENSG00000138029 [P55084-1]
ENST00000545822; ENSP00000442665; ENSG00000138029 [P55084-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3032

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3032

UCSC genome browser

More...
UCSCi
uc002rgz.4 human [P55084-1]

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
D16481 mRNA Translation: BAA03942.1
D86850 Genomic DNA Translation: BAA22061.1 Sequence problems.
AF113209 mRNA Translation: AAG39280.1
AK304455 mRNA Translation: BAG65272.1
AK314455 mRNA Translation: BAG37063.1
AC010896 Genomic DNA Translation: AAY14644.1
BC014572 mRNA Translation: AAH14572.1
BC017564 mRNA Translation: AAH17564.1
BC030824 mRNA Translation: AAH30824.1
BC066963 mRNA Translation: AAH66963.1
CCDSiCCDS1722.1 [P55084-1]
CCDS62872.1 [P55084-2]
PIRiJC2109
RefSeqiNP_000174.1, NM_000183.2 [P55084-1]
NP_001268441.1, NM_001281512.1
NP_001268442.1, NM_001281513.1 [P55084-2]
XP_011531105.1, XM_011532803.1 [P55084-1]

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
5ZQZelectron microscopy4.20B/D1-474[»]
5ZRVelectron microscopy7.70B/D/F/H1-474[»]
6DV2X-ray3.60A/B/C/D/E/F34-474[»]
SMRiP55084
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi109282, 113 interactors
CORUMiP55084
IntActiP55084, 89 interactors
MINTiP55084
STRINGi9606.ENSP00000325136

Protein family/group databases

MoonProtiP55084

PTM databases

iPTMnetiP55084
PhosphoSitePlusiP55084
SwissPalmiP55084

Polymorphism and mutation databases

BioMutaiHADHB
DMDMi116241345

2D gel databases

UCD-2DPAGEiP55084

Proteomic databases

EPDiP55084
jPOSTiP55084
MassIVEiP55084
MaxQBiP55084
PaxDbiP55084
PeptideAtlasiP55084
PRIDEiP55084
ProteomicsDBi56786 [P55084-1]
5856

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3032

Genome annotation databases

EnsembliENST00000317799; ENSP00000325136; ENSG00000138029 [P55084-1]
ENST00000545822; ENSP00000442665; ENSG00000138029 [P55084-2]
GeneIDi3032
KEGGihsa:3032
UCSCiuc002rgz.4 human [P55084-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3032
DisGeNETi3032

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HADHB
HGNCiHGNC:4803 HADHB
HPAiHPA037539
HPA037540
HPA066099
MalaCardsiHADHB
MIMi143450 gene
609015 phenotype
neXtProtiNX_P55084
OpenTargetsiENSG00000138029
Orphaneti746 Mitochondrial trifunctional protein deficiency
PharmGKBiPA29177

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1392 Eukaryota
COG0183 LUCA
GeneTreeiENSGT00950000182771
HOGENOMiHOG000012240
InParanoidiP55084
KOiK07509
OMAiMTAFPEP
OrthoDBi1627291at2759
PhylomeDBiP55084
TreeFamiTF315243

Enzyme and pathway databases

UniPathwayiUPA00659
BioCyciMetaCyc:HS06436-MONOMER
ReactomeiR-HSA-1482798 Acyl chain remodeling of CL
R-HSA-77285 Beta oxidation of myristoyl-CoA to lauroyl-CoA
R-HSA-77288 mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
R-HSA-77305 Beta oxidation of palmitoyl-CoA to myristoyl-CoA
R-HSA-77310 Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
R-HSA-77346 Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
R-HSA-77348 Beta oxidation of octanoyl-CoA to hexanoyl-CoA
R-HSA-77350 Beta oxidation of hexanoyl-CoA to butanoyl-CoA

Miscellaneous databases

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

More...
ChiTaRSi
HADHB human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
HADHB

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

More...
GenomeRNAii
3032
PharosiP55084

Protein Ontology

More...
PROi
PR:P55084

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138029 Expressed in 237 organ(s), highest expression level in heart right ventricle
ExpressionAtlasiP55084 baseline and differential
GenevisibleiP55084 HS

Family and domain databases

CDDicd00751 thiolase, 1 hit
Gene3Di3.40.47.10, 1 hit
InterProiView protein in InterPro
IPR002155 Thiolase
IPR016039 Thiolase-like
IPR020615 Thiolase_acyl_enz_int_AS
IPR020610 Thiolase_AS
IPR020617 Thiolase_C
IPR020613 Thiolase_CS
IPR020616 Thiolase_N
PfamiView protein in Pfam
PF02803 Thiolase_C, 1 hit
PF00108 Thiolase_N, 1 hit
SUPFAMiSSF53901 SSF53901, 2 hits
TIGRFAMsiTIGR01930 AcCoA-C-Actrans, 1 hit
PROSITEiView protein in PROSITE
PS00098 THIOLASE_1, 1 hit
PS00737 THIOLASE_2, 1 hit
PS00099 THIOLASE_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiECHB_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: P55084
Secondary accession number(s): B2RB16
, B4E2W0, O14969, Q53TA6, Q96C77, Q9H3F5, Q9T2V8
<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, 1996
Last sequence update: October 17, 2006
Last modified: October 16, 2019
This is version 198 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 2
    Human chromosome 2: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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