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UniProtKB - P26440 (IVD_HUMAN)

Entry version 209 (10 Feb 2021)
Sequence version 2 (12 Sep 2018)
Previous versions | rss
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Protein

Isovaleryl-CoA dehydrogenase, mitochondrial

Gene

IVD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the conversion of isovaleryl-CoA/3-methylbutanoyl-CoA to 3-methylbut-2-enoyl-CoA as an intermediate step in the leucine (Leu) catabolic pathway (PubMed:7640268). To a lesser extent, is also able to catalyze the oxidation of other saturated short-chain acyl-CoA thioesters as pentanoyl-CoA, hexenoyl-CoA and butenoyl-CoA (PubMed:7640268).1 Publication

Caution

It is uncertain whether Met-1 or Met-4 is the initiator.Curated

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

FAD1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: L-leucine degradation

This protein is involved in step 1 of the subpathway that synthesizes (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA.
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. Butyryl-CoA dehydrogenase (IVD), Isovaleryl-CoA dehydrogenase, mitochondrial (IVD), Butyryl-CoA dehydrogenase (IVD), Butyryl-CoA dehydrogenase (IVD), Butyryl-CoA dehydrogenase, Butyryl-CoA dehydrogenase (IVD), Butyryl-CoA dehydrogenase (IVD), Butyryl-CoA dehydrogenase (IVD)
  2. Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCC2), Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (MCCC1)
  3. Methylglutaconyl-CoA hydratase, mitochondrial (AUH)
This subpathway is part of the pathway L-leucine degradation, which is itself part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA, the pathway L-leucine degradation and in Amino-acid degradation.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei174Substrate; via carbonyl oxygenCombined sources1 Publication1
Binding sitei277SubstrateCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 sitei286Proton acceptorCombined sources1 Publication1
Binding sitei312FADCombined sources1 Publication1
Binding sitei323FADCombined sources1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi165 – 174FADCombined sources1 Publication10
Nucleotide bindingi198 – 200FADCombined sources1 Publication3
Nucleotide bindingi380 – 384FADCombined sources1 Publication5
Nucleotide bindingi409 – 411FADCombined sources1 Publication3

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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
Biological processFatty acid metabolism, Lipid metabolism
LigandFAD, Flavoprotein

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		1.3.8.4, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P26440

Reactome - a knowledgebase of biological pathways and processes

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

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P26440

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

More...UniPathwayi		UPA00363;UER00860

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000000936

<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%5Fand%5Ftaxonomy%5Fsection">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:
Isovaleryl-CoA dehydrogenase, mitochondrialCurated (EC:1.3.8.41 Publication)
Short name:
IVD
Alternative name(s):
Butyryl-CoA dehydrogenase (EC:1.3.8.11 Publication)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:IVDImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 15

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6186, IVD

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607036, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P26440

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000128928.8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Isovaleric acidemia (IVA)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by retarded psychomotor development, a peculiar odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death.
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_00042345L → P in IVA. 1 PublicationCorresponds to variant dbSNP:rs121434284Ensembl.1
Natural variantiVAR_01596053R → P in IVA. 1 PublicationCorresponds to variant dbSNP:rs2229311Ensembl.1
Natural variantiVAR_01596172D → N in IVA. 1 PublicationCorresponds to variant dbSNP:rs747273828Ensembl.1
Natural variantiVAR_07006197A → G in IVA. 1 Publication1
Natural variantiVAR_070062123G → R in IVA. 2 PublicationsCorresponds to variant dbSNP:rs142761835Ensembl.1
Natural variantiVAR_070063199I → M in IVA. 1 Publication1
Natural variantiVAR_000424202G → V in IVA. 1 PublicationCorresponds to variant dbSNP:rs121434285Ensembl.1
Natural variantiVAR_079552250G → A in IVA; unknown pathological significance. 1 Publication1
Natural variantiVAR_070064279L → P in IVA. 1 Publication1
Natural variantiVAR_079553291A → V in IVA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886042098Ensembl.1
Natural variantiVAR_015962314A → V in IVA. 1 PublicationCorresponds to variant dbSNP:rs28940889Ensembl.1
Natural variantiVAR_015963360C → R in IVA. 1 PublicationCorresponds to variant dbSNP:rs760822119Ensembl.1
Natural variantiVAR_015964374V → A in IVA. 1 PublicationCorresponds to variant dbSNP:rs754600862Ensembl.1
Natural variantiVAR_079554379I → T in IVA; unknown pathological significance. 1 Publication1
Natural variantiVAR_015965395R → C in IVA. 1 PublicationCorresponds to variant dbSNP:rs371427844Ensembl.1
Natural variantiVAR_079555398R → Q in IVA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1477527791Ensembl.1
Natural variantiVAR_070065403Y → C in IVA. 1 PublicationCorresponds to variant dbSNP:rs773560012Ensembl.1
Natural variantiVAR_079556403Y → N in IVA; unknown pathological significance. 1 Publication1
Natural variantiVAR_015966414R → L in IVA. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi286E → D: Residual isovaleryl-CoA dehydrogenase activity. 1 Publication1
Mutagenesisi286E → G: Loss of isovaleryl-CoA dehydrogenase activity. Does not affect isovaleryl-CoA dehydrogenase activity; when associated with 407-E. 1 Publication1
Mutagenesisi286E → Q: Loss of isovaleryl-CoA dehydrogenase activity. 1 Publication1
Mutagenesisi407A → E: Does not affect isovaleryl-CoA dehydrogenase activity; when associated with 286-D. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		3712

MalaCards human disease database

More...MalaCardsi		IVD
MIMi243500, phenotype

Open Targets

More...OpenTargetsi		ENSG00000128928

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

More...Orphaneti		33, Isovaleric acidemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29984

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P26440, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB04036, Coenzyme A persulfide
DB03147, Flavin adenine dinucleotide

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		IVD

Domain mapping of disease mutations (DMDM)

More...DMDMi		125051

<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 – 32MitochondrionCombined sources2 PublicationsAdd BLAST32
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000053133 – 426Isovaleryl-CoA dehydrogenase, mitochondrialAdd BLAST394

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 residuei58N6-acetyllysine; alternateBy similarity1
Modified residuei58N6-succinyllysine; alternateBy similarity1
Modified residuei67N6-acetyllysine; alternateBy similarity1
Modified residuei67N6-succinyllysine; alternateBy similarity1
Modified residuei78N6-acetyllysine; alternateCombined sources1
Modified residuei78N6-succinyllysine; alternateBy similarity1
Modified residuei241N6-acetyllysineBy similarity1
Modified residuei262N6-acetyllysine; alternateBy similarity1
Modified residuei262N6-succinyllysine; alternateBy similarity1
Modified residuei318N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P26440

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P26440

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P26440

MaxQB - The MaxQuant DataBase

More...MaxQBi		P26440

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

More...PaxDbi		P26440

PeptideAtlas

More...PeptideAtlasi		P26440

PRoteomics IDEntifications database

More...PRIDEi		P26440

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		3759
54348 [P26440-1]

2D gel databases

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		IPI00645805

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		P26440

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P26440

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

More...PhosphoSitePlusi		P26440

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P26440

<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		ENSG00000128928, Expressed in left lobe of thyroid gland and 221 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P26440, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P26440, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000128928, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109916, 24 interactors

Protein interaction database and analysis system

More...IntActi		P26440, 19 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000418397

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P26440, protein

<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

1426
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P26440

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P26440

<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>Regioni222 – 223Substrate bindingCombined sources1 Publication2
Regioni284 – 287Substrate bindingCombined sources1 Publication4
Regioni407 – 408Substrate bindingCombined sources1 Publication2

<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 acyl-CoA dehydrogenase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0141, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158100

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_018204_3_5_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P26440

Identification of Orthologs from Complete Genome Data

More...OMAi		CFITNSG

Database of Orthologous Groups

More...OrthoDBi		589058at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P26440

TreeFam database of animal gene trees

More...TreeFami		TF105050

Family and domain databases

Conserved Domains Database

More...CDDi		cd01156, IVD, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.540.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR006089, Acyl-CoA_DH_CS
IPR006091, Acyl-CoA_Oxase/DH_cen-dom
IPR036250, AcylCo_DH-like_C
IPR009075, AcylCo_DH/oxidase_C
IPR013786, AcylCoA_DH/ox_N
IPR037069, AcylCoA_DH/ox_N_sf
IPR009100, AcylCoA_DH/oxidase_NM_dom
IPR034183, IVD

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00441, Acyl-CoA_dh_1, 1 hit
PF02770, Acyl-CoA_dh_M, 1 hit
PF02771, Acyl-CoA_dh_N, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47203, SSF47203, 1 hit
SSF56645, SSF56645, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00072, ACYL_COA_DH_1, 1 hit
PS00073, ACYL_COA_DH_2, 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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P26440-1) [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
MAEMATATRL LGWRVASWRL RPPLAGFVSQ RAHSLLPVDD AINGLSEEQR 
        60         70         80         90        100
QLRQTMAKFL QEHLAPKAQE IDRSNEFKNL REFWKQLGNL GVLGITAPVQ 
       110        120        130        140        150
YGGSGLGYLE HVLVMEEISR ASGAVGLSYG AHSNLCINQL VRNGNEAQKE 
       160        170        180        190        200
KYLPKLISGE YIGALAMSEP NAGSDVVSMK LKAEKKGNHY ILNGNKFWIT 
       210        220        230        240        250
NGPDADVLIV YAKTDLAAVP ASRGITAFIV EKGMPGFSTS KKLDKLGMRG 
       260        270        280        290        300
SNTCELIFED CKIPAANILG HENKGVYVLM SGLDLERLVL AGGPLGLMQA 
       310        320        330        340        350
VLDHTIPYLH VREAFGQKIG HFQLMQGKMA DMYTRLMACR QYVYNVAKAC 
       360        370        380        390        400
DEGHCTAKDC AGVILYSAEC ATQVALDGIQ CFGGNGYIND FPMGRFLRDA 
       410        420 
KLYEIGAGTS EVRRLVIGRA FNADFH
Length:426
Mass (Da):46,651
Last modified:September 12, 2018 - 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:iD744DA85752BF307
GO
Isoform 2 (identifier: P26440-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     52-81: Missing.

Show »
Length:396
Mass (Da):43,056
Checksum:i996C093DA6FC7E04
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MT83A0A0A0MT83_HUMAN
Butyryl-CoA dehydrogenase
IVD
423Annotation score:

Annotation score:3 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>
A0A0S2Z4K7A0A0S2Z4K7_HUMAN
Butyryl-CoA dehydrogenase
IVD
393Annotation score:

Annotation score:3 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>
H0YN10H0YN10_HUMAN
Isovaleryl-CoA dehydrogenase, mitoc...
IVD
212Annotation 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>
H0YLC3H0YLC3_HUMAN
Isovaleryl-CoA dehydrogenase, mitoc...
IVD
243Annotation 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>
H7C4G6H7C4G6_HUMAN
Isovaleryl-CoA dehydrogenase, mitoc...
IVD
307Annotation 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>
A0A087WVD3A0A087WVD3_HUMAN
Isovaleryl-CoA dehydrogenase, mitoc...
IVD
211Annotation 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>
H0YKV0H0YKV0_HUMAN
Isovaleryl-CoA dehydrogenase, mitoc...
IVD
145Annotation 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>
H0YNA4H0YNA4_HUMAN
Isovaleryl-CoA dehydrogenase, mitoc...
IVD
41Annotation 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>
H0YNT5H0YNT5_HUMAN
Isovaleryl-CoA dehydrogenase, mitoc...
IVD
58Annotation 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 AAA52711 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAB92584 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH17202 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAG37702 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti13W → C in AAP35809 (Ref. 7) Curated1
Sequence conflicti13W → C in AAH17202 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00042345L → P in IVA. 1 PublicationCorresponds to variant dbSNP:rs121434284Ensembl.1
Natural variantiVAR_01596053R → P in IVA. 1 PublicationCorresponds to variant dbSNP:rs2229311Ensembl.1
Natural variantiVAR_01596172D → N in IVA. 1 PublicationCorresponds to variant dbSNP:rs747273828Ensembl.1
Natural variantiVAR_07006197A → G in IVA. 1 Publication1
Natural variantiVAR_070062123G → R in IVA. 2 PublicationsCorresponds to variant dbSNP:rs142761835Ensembl.1
Natural variantiVAR_070063199I → M in IVA. 1 Publication1
Natural variantiVAR_000424202G → V in IVA. 1 PublicationCorresponds to variant dbSNP:rs121434285Ensembl.1
Natural variantiVAR_079552250G → A in IVA; unknown pathological significance. 1 Publication1
Natural variantiVAR_070064279L → P in IVA. 1 Publication1
Natural variantiVAR_079553291A → V in IVA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886042098Ensembl.1
Natural variantiVAR_015962314A → V in IVA. 1 PublicationCorresponds to variant dbSNP:rs28940889Ensembl.1
Natural variantiVAR_015963360C → R in IVA. 1 PublicationCorresponds to variant dbSNP:rs760822119Ensembl.1
Natural variantiVAR_015964374V → A in IVA. 1 PublicationCorresponds to variant dbSNP:rs754600862Ensembl.1
Natural variantiVAR_079554379I → T in IVA; unknown pathological significance. 1 Publication1
Natural variantiVAR_015965395R → C in IVA. 1 PublicationCorresponds to variant dbSNP:rs371427844Ensembl.1
Natural variantiVAR_079555398R → Q in IVA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1477527791Ensembl.1
Natural variantiVAR_070065403Y → C in IVA. 1 PublicationCorresponds to variant dbSNP:rs773560012Ensembl.1
Natural variantiVAR_079556403Y → N in IVA; unknown pathological significance. 1 Publication1
Natural variantiVAR_015966414R → L in IVA. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04519352 – 81Missing in isoform 2. 1 PublicationAdd BLAST30

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
M34192 mRNA Translation: AAA52711.1 Different initiation.
AF191218 AF191217 Genomic DNA Translation: AAF20182.1
AK122922 mRNA Translation: BAG53799.1
AK315296 mRNA Translation: BAG37702.1 Different initiation.
AC013356 Genomic DNA No translation available.
CH471125 Genomic DNA Translation: EAW92413.1
CH471125 Genomic DNA Translation: EAW92414.1
CH471125 Genomic DNA Translation: EAW92415.1
BC017202 mRNA Translation: AAH17202.1 Different initiation.
AF038318 Genomic DNA Translation: AAB92584.1 Different initiation.
BT007145 mRNA Translation: AAP35809.1

Protein sequence database of the Protein Information Resource

More...PIRi		A37033

NCBI Reference Sequences

More...RefSeqi		NP_001152980.1, NM_001159508.1
NP_002216.2, NM_002225.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000650656; ENSP00000498731; ENSG00000128928 [P26440-2]
ENST00000651168; ENSP00000499074; ENSG00000128928 [P26440-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3712

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3712

UCSC genome browser

More...UCSCi		uc001zlq.3, human [P26440-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M34192 mRNA Translation: AAA52711.1 Different initiation.
AF191218 AF191217 Genomic DNA Translation: AAF20182.1
AK122922 mRNA Translation: BAG53799.1
AK315296 mRNA Translation: BAG37702.1 Different initiation.
AC013356 Genomic DNA No translation available.
CH471125 Genomic DNA Translation: EAW92413.1
CH471125 Genomic DNA Translation: EAW92414.1
CH471125 Genomic DNA Translation: EAW92415.1
BC017202 mRNA Translation: AAH17202.1 Different initiation.
AF038318 Genomic DNA Translation: AAB92584.1 Different initiation.
BT007145 mRNA Translation: AAP35809.1
PIRiA37033
RefSeqiNP_001152980.1, NM_001159508.1
NP_002216.2, NM_002225.3

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
1IVHX-ray2.60A/B/C/D33-426[»]
SMRiP26440
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109916, 24 interactors
IntActiP26440, 19 interactors
STRINGi9606.ENSP00000418397

Chemistry databases

DrugBankiDB04036, Coenzyme A persulfide
DB03147, Flavin adenine dinucleotide
SwissLipidsiSLP:000000936

PTM databases

iPTMnetiP26440
PhosphoSitePlusiP26440
SwissPalmiP26440

Genetic variation databases

BioMutaiIVD
DMDMi125051

2D gel databases

REPRODUCTION-2DPAGEiIPI00645805
UCD-2DPAGEiP26440

Proteomic databases

EPDiP26440
jPOSTiP26440
MassIVEiP26440
MaxQBiP26440
PaxDbiP26440
PeptideAtlasiP26440
PRIDEiP26440
ProteomicsDBi3759
54348 [P26440-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		23079, 207 antibodies

The DNASU plasmid repository

More...DNASUi		3712

Genome annotation databases

EnsembliENST00000650656; ENSP00000498731; ENSG00000128928 [P26440-2]
ENST00000651168; ENSP00000499074; ENSG00000128928 [P26440-1]
GeneIDi3712
KEGGihsa:3712
UCSCiuc001zlq.3, human [P26440-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3712
DisGeNETi3712

GeneCards: human genes, protein and diseases

More...GeneCardsi		IVD
HGNCiHGNC:6186, IVD
HPAiENSG00000128928, Low tissue specificity
MalaCardsiIVD
MIMi243500, phenotype
607036, gene
neXtProtiNX_P26440
OpenTargetsiENSG00000128928
Orphaneti33, Isovaleric acidemia
PharmGKBiPA29984
VEuPathDBiHostDB:ENSG00000128928.8

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0141, Eukaryota
GeneTreeiENSGT00940000158100
HOGENOMiCLU_018204_3_5_1
InParanoidiP26440
OMAiCFITNSG
OrthoDBi589058at2759
PhylomeDBiP26440
TreeFamiTF105050

Enzyme and pathway databases

UniPathwayiUPA00363;UER00860
BRENDAi1.3.8.4, 2681
PathwayCommonsiP26440
ReactomeiR-HSA-70895, Branched-chain amino acid catabolism
SABIO-RKiP26440

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3712, 2 hits in 877 CRISPR screens

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

More...ChiTaRSi		IVD, human
EvolutionaryTraceiP26440

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

More...GenomeRNAii		3712
PharosiP26440, Tbio

Protein Ontology

More...PROi		PR:P26440
RNActiP26440, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000128928, Expressed in left lobe of thyroid gland and 221 other tissues
ExpressionAtlasiP26440, baseline and differential
GenevisibleiP26440, HS

Family and domain databases

CDDicd01156, IVD, 1 hit
Gene3Di1.10.540.10, 1 hit
InterProiView protein in InterPro
IPR006089, Acyl-CoA_DH_CS
IPR006091, Acyl-CoA_Oxase/DH_cen-dom
IPR036250, AcylCo_DH-like_C
IPR009075, AcylCo_DH/oxidase_C
IPR013786, AcylCoA_DH/ox_N
IPR037069, AcylCoA_DH/ox_N_sf
IPR009100, AcylCoA_DH/oxidase_NM_dom
IPR034183, IVD
PfamiView protein in Pfam
PF00441, Acyl-CoA_dh_1, 1 hit
PF02770, Acyl-CoA_dh_M, 1 hit
PF02771, Acyl-CoA_dh_N, 1 hit
SUPFAMiSSF47203, SSF47203, 1 hit
SSF56645, SSF56645, 1 hit
PROSITEiView protein in PROSITE
PS00072, ACYL_COA_DH_1, 1 hit
PS00073, ACYL_COA_DH_2, 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 nameiIVD_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: P26440
Secondary accession number(s): B2RCV5
, B3KVI7, J3KR54, Q53XZ9, Q96AF6
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: September 12, 2018
Last modified: February 10, 2021
This is version 209 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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