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Entry version 199 (22 Apr 2020)
Sequence version 3 (10 Feb 2009)
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Protein

Peroxisomal bifunctional enzyme

Gene

EHHADH

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

Miscellaneous

Absent in patients suffering with peroxisomal disorders such as Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease.

<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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Enzyme activity enhanced by acetylation.1 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: fatty acid beta-oxidation

This protein is involved in the pathway fatty acid beta-oxidation, which is part of Lipid metabolism.
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%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 sitei101Substrate; via amide nitrogenBy similarity1
<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>Sitei104Important for catalytic activityBy similarity1
Sitei124Important for catalytic activityBy similarity1

<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 functionIsomerase, Lyase, Multifunctional enzyme, Oxidoreductase
Biological processFatty acid metabolism, Lipid metabolism
LigandNAD

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS03720-MONOMER

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-390247 Beta-oxidation of very long chain fatty acids
R-HSA-9033241 Peroxisomal protein import

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q08426

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

More...
UniPathwayi
UPA00659

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000543

<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:
Peroxisomal bifunctional enzyme
Short name:
PBE
Short name:
PBFE
Including the following 2 domains:
Enoyl-CoA hydratase/3,2-trans-enoyl-CoA isomerase (EC:4.2.1.17, EC:5.3.3.8)
3-hydroxyacyl-CoA dehydrogenase (EC:1.1.1.35)
<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:EHHADH
Synonyms:ECHD
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3247 EHHADH

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607037 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q08426

<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

Peroxisome

<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

Fanconi renotubular syndrome 3 (FRTS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency.
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_0709493E → K in FRTS3; the mutant is mistargeted to mitochondria; results in impaired mitochondrial oxidative phosphorylation and defects in the transport of fluids across the epithelium of renal proximal tubular cells. 1 PublicationCorresponds to variant dbSNP:rs398124646EnsemblClinVar.1

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>Mutagenesisi165K → Q: Greatly reduced acetylation and insensitive to treatment with TSA and NAM; when associated with Q-171; Q-346 and Q-584. 1 Publication1
Mutagenesisi171K → Q: Greatly reduced acetylation and insensitive to treatment with TSA and NAM; when associated with Q-165; Q-346 and Q-584. 1 Publication1
Mutagenesisi346K → Q: Greatly reduced acetylation and insensitive to treatment with TSA and NAM; when associated with Q-165; Q-171 and Q-584. 1 Publication1
Mutagenesisi584K → Q: Greatly reduced acetylation and insensitive to treatment with TSA and NAM; when associated with Q-165; Q-171 and Q-346. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
1962

MalaCards human disease database

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MalaCardsi
EHHADH
MIMi615605 phenotype

Open Targets

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OpenTargetsi
ENSG00000113790

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

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Orphaneti
300 Bifunctional enzyme deficiency
3337 Primary Fanconi syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27682

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q08426 Tbio

Chemistry databases

Drug and drug target database

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DrugBanki
DB00157 NADH

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
EHHADH

Domain mapping of disease mutations (DMDM)

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DMDMi
223590229

<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 polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001092471 – 723Peroxisomal bifunctional enzymeAdd BLAST723

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 residuei38N6-succinyllysineBy similarity1
Modified residuei165N6-acetyllysine; alternate1 Publication1
Modified residuei165N6-succinyllysine; alternateBy similarity1
Modified residuei171N6-acetyllysine1 Publication1
Modified residuei219N6-acetyllysine; alternateBy similarity1
Modified residuei219N6-succinyllysine; alternateBy similarity1
Modified residuei250N6-acetyllysineBy similarity1
Modified residuei280N6-succinyllysineBy similarity1
Modified residuei290N6-succinyllysineBy similarity1
Modified residuei346N6-acetyllysine1 Publication1
Modified residuei350N6-acetyllysineBy similarity1
Modified residuei464N6-acetyllysineBy similarity1
Modified residuei532N6-succinyllysineBy similarity1
Modified residuei548PhosphothreonineCombined sources1
Modified residuei577N6-succinyllysineBy similarity1
Modified residuei584N6-acetyllysine; alternateCombined sources1 Publication1
Modified residuei584N6-succinyllysine; alternateBy similarity1
Modified residuei591N6-acetyllysine; alternateBy similarity1
Modified residuei591N6-succinyllysine; alternateBy similarity1
Modified residuei710N6-acetyllysine; alternateBy similarity1
Modified residuei710N6-succinyllysine; alternateBy similarity1
Modified residuei718PhosphoserineCombined sources1
Modified residuei722N6-succinyllysineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Acetylated, leading to enhanced enzyme activity. Acetylation is enhanced by up to 80% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with highest increase on Lys-346. Acetylation and enzyme activity increased by about 1.5% on addition of fatty acids.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q08426

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q08426

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q08426

MaxQB - The MaxQuant DataBase

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MaxQBi
Q08426

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

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PaxDbi
Q08426

PeptideAtlas

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PeptideAtlasi
Q08426

PRoteomics IDEntifications database

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PRIDEi
Q08426

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
58608 [Q08426-1]
58609 [Q08426-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q08426

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

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PhosphoSitePlusi
Q08426

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Liver and kidney. Strongly expressed in the terminal segments of the proximal tubule. Lower amounts seen in the brain.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000113790 Expressed in liver and 196 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q08426 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q08426 HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000113790 Group enriched (kidney, liver)

<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

Monomer.

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

Q08426
With#Exp.IntAct
AARS2 [Q5JTZ9]3EBI-2339219,EBI-308736
ACTB [P60709]4EBI-2339219,EBI-353944
ACTG1 [P63261]4EBI-2339219,EBI-351292
ADARB1 - isoform 4 [P78563-4]3EBI-2339219,EBI-12002366
ANKRD36B - isoform 4 [Q8N2N9-4]3EBI-2339219,EBI-12170453
ARMC12 - isoform 2 [Q5T9G4-2]3EBI-2339219,EBI-23667468
ARMCX3 [Q9UH62]3EBI-2339219,EBI-717832
BHLHE40 [O14503]3EBI-2339219,EBI-711810
BOLL - isoform 4 [Q8N9W6-4]3EBI-2339219,EBI-11983447
C16orf58 [Q96GQ5]3EBI-2339219,EBI-8636004
C1orf50 [Q9BV19]3EBI-2339219,EBI-2874661
CAPN3 - isoform IV [P20807-4]3EBI-2339219,EBI-11532021
CBS [P35520]4EBI-2339219,EBI-740135
CCDC102B [Q68D86]4EBI-2339219,EBI-10171570
CCDC13 [Q8IYE1]3EBI-2339219,EBI-10961312
CDR2L [Q86X02]3EBI-2339219,EBI-11063830
CEP83 - isoform 2 [Q9Y592-2]3EBI-2339219,EBI-11123098
CFL2 [Q9Y281]3EBI-2339219,EBI-351218
CISD2 [Q8N5K1]3EBI-2339219,EBI-1045797
CLDN18 [P56856]3EBI-2339219,EBI-16354902
CLDN5 [O00501]3EBI-2339219,EBI-18400628
CLK2 [P49760]3EBI-2339219,EBI-750020
CMTM6 [Q9NX76]3EBI-2339219,EBI-1054315
COQ9 [O75208]3EBI-2339219,EBI-724524
CYB561 [P49447]3EBI-2339219,EBI-8646596
CYB561A3 [Q8NBI2]3EBI-2339219,EBI-10269179
DERL3 [Q96Q80]3EBI-2339219,EBI-12831318
DES [P17661]6EBI-2339219,EBI-1055572
DIABLO [Q9NR28]3EBI-2339219,EBI-517508
EBP [Q15125]3EBI-2339219,EBI-3915253
EMP1 [P54849]3EBI-2339219,EBI-4319440
ERGIC1 [Q969X5]3EBI-2339219,EBI-781527
ERGIC3 [Q9Y282]3EBI-2339219,EBI-781551
ERVFRD-1 [P60508]3EBI-2339219,EBI-17973325
FGF14 - isoform 2 [Q92915-2]3EBI-2339219,EBI-12836320
FUNDC1 [Q8IVP5]4EBI-2339219,EBI-3059266
GAS8 [O95995]3EBI-2339219,EBI-1052570
GMCL1 [Q96IK5]3EBI-2339219,EBI-2548508
GRIPAP1 [Q4V328]3EBI-2339219,EBI-717919
HID1 [Q8IV36]3EBI-2339219,EBI-743438
HIP1 [O00291]3EBI-2339219,EBI-473886
HMG20A [Q9NP66]3EBI-2339219,EBI-740641
HSD17B11 [Q8NBQ5]3EBI-2339219,EBI-1052304
HTATIP2 - isoform 3 [Q9BUP3-3]3EBI-2339219,EBI-12937691
IKZF3 [Q9UKT9]3EBI-2339219,EBI-747204
JAGN1 [Q8N5M9]3EBI-2339219,EBI-10266796
KCTD6 [Q8NC69]5EBI-2339219,EBI-2511344
KCTD9 [Q7L273]4EBI-2339219,EBI-4397613
KRTAP10-7 [P60409]3EBI-2339219,EBI-10172290
KRTAP4-11 [Q9BYQ6]3EBI-2339219,EBI-10302392
LCN2 [P80188]3EBI-2339219,EBI-11911016
LEPROTL1 [O95214]5EBI-2339219,EBI-750776
LTBR [P36941]3EBI-2339219,EBI-3509981
LYPD5 [Q6UWN5]3EBI-2339219,EBI-17200970
LZTFL1 [Q9NQ48]3EBI-2339219,EBI-2824799
LZTS2 [Q9BRK4]3EBI-2339219,EBI-741037
MAB21L3 [Q8N8X9]3EBI-2339219,EBI-10268010
MID1 [O15344]8EBI-2339219,EBI-2340316
MTUS2 - isoform 2 [Q5JR59-3]3EBI-2339219,EBI-11522433
NACC1 [Q96RE7]3EBI-2339219,EBI-7950997
NECAB2 - isoform 2 [Q7Z6G3-2]3EBI-2339219,EBI-10172876
OPRM1 - isoform 10 [P35372-10]3EBI-2339219,EBI-12807478
ORMDL1 [Q9P0S3]3EBI-2339219,EBI-1054848
PAQR8 [Q8TEZ7]3EBI-2339219,EBI-12847818
PICK1 [Q9NRD5]3EBI-2339219,EBI-79165
PNMA1 [Q8ND90]3EBI-2339219,EBI-302345
PNMA5 [Q96PV4]3EBI-2339219,EBI-10171633
PPP1R12C [Q9BZL4]3EBI-2339219,EBI-721802
PRKRA [O75569]3EBI-2339219,EBI-713955
PRMT5 [O14744]3EBI-2339219,EBI-351098
PS1TP5BP1 [Q1KLZ0]3EBI-2339219,EBI-9978131
PSTPIP1 [O43586]3EBI-2339219,EBI-1050964
PTGES [O14684]3EBI-2339219,EBI-11161398
REEP6 - isoform 2 [Q96HR9-2]3EBI-2339219,EBI-14065960
REL - isoform 2 [Q04864-2]3EBI-2339219,EBI-10829018
RNF4 [P78317]3EBI-2339219,EBI-2340927
RPRM [Q9NS64]3EBI-2339219,EBI-1052363
SCARA5 - isoform 2 [Q6ZMJ2-2]3EBI-2339219,EBI-12823227
SDR16C5 [Q8N3Y7]3EBI-2339219,EBI-3923480
SFT2D1 [Q8WV19]3EBI-2339219,EBI-2854842
SGCB [Q16585]3EBI-2339219,EBI-5663627
SLC14A2 [Q15849]3EBI-2339219,EBI-1573290
SLC39A2 [Q9NP94]3EBI-2339219,EBI-12898013
SMIM5 [Q71RC9]3EBI-2339219,EBI-12334905
SMN2 [Q16637]3EBI-2339219,EBI-395421
SSMEM1 [Q8WWF3]3EBI-2339219,EBI-17280858
SSNA1 [O43805]4EBI-2339219,EBI-2515299
SSX2IP [Q9Y2D8]3EBI-2339219,EBI-2212028
SYNGR1 - isoform 1B [O43759-2]3EBI-2339219,EBI-12187159
SYNGR3 [O43761]3EBI-2339219,EBI-11321949
TMEM121 [Q9BTD3]3EBI-2339219,EBI-12155101
TMEM17 [Q86X19]3EBI-2339219,EBI-11343485
TMEM35A [Q53FP2]3EBI-2339219,EBI-11722971
TNIP1 [Q15025]4EBI-2339219,EBI-357849
TPP2 [P29144]5EBI-2339219,EBI-1044672
TRAF1 [Q13077]3EBI-2339219,EBI-359224
TRAF2 [Q12933]3EBI-2339219,EBI-355744
TRIM21 [P19474]3EBI-2339219,EBI-81290
TRIM23 [P36406]3EBI-2339219,EBI-740098
TRIM27 [P14373]6EBI-2339219,EBI-719493
TRIM41 [Q8WV44]7EBI-2339219,EBI-725997
TRIM5 - isoform Gamma [Q9C035-3]3EBI-2339219,EBI-12840050
TRIM54 [Q9BYV2]3EBI-2339219,EBI-2130429
TRIM63 [Q969Q1]3EBI-2339219,EBI-5661333
UBXN1 - isoform 2 [Q04323-2]3EBI-2339219,EBI-11530712
VAC14 [Q08AM6]3EBI-2339219,EBI-2107455
ZBTB10 - isoform 3 [Q96DT7-3]3EBI-2339219,EBI-12017160
ZBTB26 [Q9HCK0]5EBI-2339219,EBI-3918996
ZBTB8A [Q96BR9]3EBI-2339219,EBI-742740
ZBTB9 [Q96C00]6EBI-2339219,EBI-395708
ZCCHC17 [Q9NP64]3EBI-2339219,EBI-746345
ZRANB1 [Q9UGI0]3EBI-2339219,EBI-527853

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108282, 35 interactors

Protein interaction database and analysis system

More...
IntActi
Q08426, 121 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000231887

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q08426 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

3D structure databases

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

More...
SMRi
Q08426

Database of comparative protein structure models

More...
ModBasei
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

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>Regioni1 – 282Enoyl-CoA hydratase / isomeraseAdd BLAST282
Regioni283 – 5723-hydroxyacyl-CoA dehydrogenaseAdd BLAST290

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi721 – 723Microbody targeting signal3

<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

In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.Curated
In the C-terminal section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1683 Eukaryota
COG1024 LUCA
COG1250 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157516

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_009834_16_3_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q08426

KEGG Orthology (KO)

More...
KOi
K07514

Identification of Orthologs from Complete Genome Data

More...
OMAi
TGAGWPF

Database of Orthologous Groups

More...
OrthoDBi
219667at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q08426

TreeFam database of animal gene trees

More...
TreeFami
TF316708

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006180 3-OHacyl-CoA_DH_CS
IPR006176 3-OHacyl-CoA_DH_NAD-bd
IPR006108 3HC_DH_C
IPR008927 6-PGluconate_DH-like_C_sf
IPR029045 ClpP/crotonase-like_dom_sf
IPR018376 Enoyl-CoA_hyd/isom_CS
IPR001753 Enoyl-CoA_hydra/iso
IPR036291 NAD(P)-bd_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00725 3HCDH, 2 hits
PF02737 3HCDH_N, 1 hit
PF00378 ECH_1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48179 SSF48179, 2 hits
SSF51735 SSF51735, 1 hit
SSF52096 SSF52096, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00067 3HCDH, 1 hit
PS00166 ENOYL_COA_HYDRATASE, 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.

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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q08426-1) [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
MAEYTRLHNA LALIRLRNPP VNAISTTLLR DIKEGLQKAV IDHTIKAIVI
60 70 80 90 100
CGAEGKFSAG ADIRGFSAPR TFGLTLGHVV DEIQRNEKPV VAAIQGMAFG
110 120 130 140 150
GGLELALGCH YRIAHAEAQV GLPEVTLGLL PGARGTQLLP RLTGVPAALD
160 170 180 190 200
LITSGRRILA DEALKLGILD KVVNSDPVEE AIRFAQRVSD QPLESRRLCN
210 220 230 240 250
KPIQSLPNMD SIFSEALLKM RRQHPGCLAQ EACVRAVQAA VQYPYEVGIK
260 270 280 290 300
KEEELFLYLL QSGQARALQY AFFAERKANK WSTPSGASWK TASARPVSSV
310 320 330 340 350
GVVGLGTMGR GIVISFARAR IPVIAVDSDK NQLATANKMI TSVLEKEASK
360 370 380 390 400
MQQSGHPWSG PKPRLTSSVK ELGGVDLVIE AVFEEMSLKK QVFAELSAVC
410 420 430 440 450
KPEAFLCTNT SALDVDEIAS STDRPHLVIG THFFSPAHVM KLLEVIPSQY
460 470 480 490 500
SSPTTIATVM NLSKKIKKIG VVVGNCFGFV GNRMLNPYYN QAYFLLEEGS
510 520 530 540 550
KPEEVDQVLE EFGFKMGPFR VSDLAGLDVG WKSRKGQGLT GPTLLPGTPA
560 570 580 590 600
RKRGNRRYCP IPDVLCELGR FGQKTGKGWY QYDKPLGRIH KPDPWLSKFL
610 620 630 640 650
SRYRKTHHIE PRTISQDEIL ERCLYSLINE AFRILGEGIA ASPEHIDVVY
660 670 680 690 700
LHGYGWPRHK GGPMFYASTV GLPTVLEKLQ KYYRQNPDIP QLEPSDYLKK
710 720
LASQGNPPLK EWQSLAGSPS SKL
Length:723
Mass (Da):79,495
Last modified:February 10, 2009 - 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:iFC3B44B030A7BCBD
GO
Isoform 2 (identifier: Q08426-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-96: Missing.

Show »
Length:627
Mass (Da):69,154
Checksum:iF1F1A30F0E89ED98
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
C9JJE0C9JJE0_HUMAN
Peroxisomal bifunctional enzyme
EHHADH
76Annotation 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>

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 conflicti117E → D in AAA53289 (PubMed:8188243).Curated1
Sequence conflicti656 – 657WP → CA in AAA53289 (PubMed:8188243).Curated2
Sequence conflicti656 – 657WP → CA in AAB19482 (PubMed:15489334).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0709493E → K in FRTS3; the mutant is mistargeted to mitochondria; results in impaired mitochondrial oxidative phosphorylation and defects in the transport of fluids across the epithelium of renal proximal tubular cells. 1 PublicationCorresponds to variant dbSNP:rs398124646EnsemblClinVar.1
Natural variantiVAR_05432940V → G1 PublicationCorresponds to variant dbSNP:rs1062551Ensembl.1
Natural variantiVAR_05433041I → R1 PublicationCorresponds to variant dbSNP:rs1062552Ensembl.1
Natural variantiVAR_04713275T → I1 PublicationCorresponds to variant dbSNP:rs1062553Ensembl.1
Natural variantiVAR_047133274A → T1 PublicationCorresponds to variant dbSNP:rs2302819Ensembl.1
Natural variantiVAR_054331325A → G1 PublicationCorresponds to variant dbSNP:rs1062555Ensembl.1
Natural variantiVAR_054332598K → T2 PublicationsCorresponds to variant dbSNP:rs1042437Ensembl.1
Natural variantiVAR_047134606T → P2 PublicationsCorresponds to variant dbSNP:rs1042438Ensembl.1
Natural variantiVAR_047135685Q → K. Corresponds to variant dbSNP:rs11919970Ensembl.1
Natural variantiVAR_047136715L → S. Corresponds to variant dbSNP:rs11927618Ensembl.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_0428111 – 96Missing in isoform 2. 1 PublicationAdd BLAST96

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
L07077 mRNA Translation: AAA53289.1
AJ427345 AJ427351 Genomic DNA Translation: CAD22483.1
AK291798 mRNA Translation: BAF84487.1
AK223460 mRNA Translation: BAD97180.1
AK301521 mRNA Translation: BAG63025.1
AC007934 Genomic DNA No translation available.
AC128680 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78229.1
CH471052 Genomic DNA Translation: EAW78230.1
BC038948 mRNA Translation: AAH38948.1
BC110460 mRNA Translation: AAI10461.1
S50245 mRNA Translation: AAB19482.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33901.1 [Q08426-1]
CCDS54694.1 [Q08426-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
A49613

NCBI Reference Sequences

More...
RefSeqi
NP_001159887.1, NM_001166415.1 [Q08426-2]
NP_001957.2, NM_001966.3 [Q08426-1]
XP_011510819.1, XM_011512517.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000231887; ENSP00000231887; ENSG00000113790 [Q08426-1]
ENST00000456310; ENSP00000387746; ENSG00000113790 [Q08426-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1962

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1962

UCSC genome browser

More...
UCSCi
uc003fpf.3 human [Q08426-1]

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
L07077 mRNA Translation: AAA53289.1
AJ427345 AJ427351 Genomic DNA Translation: CAD22483.1
AK291798 mRNA Translation: BAF84487.1
AK223460 mRNA Translation: BAD97180.1
AK301521 mRNA Translation: BAG63025.1
AC007934 Genomic DNA No translation available.
AC128680 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78229.1
CH471052 Genomic DNA Translation: EAW78230.1
BC038948 mRNA Translation: AAH38948.1
BC110460 mRNA Translation: AAI10461.1
S50245 mRNA Translation: AAB19482.1
CCDSiCCDS33901.1 [Q08426-1]
CCDS54694.1 [Q08426-2]
PIRiA49613
RefSeqiNP_001159887.1, NM_001166415.1 [Q08426-2]
NP_001957.2, NM_001966.3 [Q08426-1]
XP_011510819.1, XM_011512517.1

3D structure databases

SMRiQ08426
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108282, 35 interactors
IntActiQ08426, 121 interactors
STRINGi9606.ENSP00000231887

Chemistry databases

DrugBankiDB00157 NADH
SwissLipidsiSLP:000000543

PTM databases

iPTMnetiQ08426
PhosphoSitePlusiQ08426

Polymorphism and mutation databases

BioMutaiEHHADH
DMDMi223590229

Proteomic databases

EPDiQ08426
jPOSTiQ08426
MassIVEiQ08426
MaxQBiQ08426
PaxDbiQ08426
PeptideAtlasiQ08426
PRIDEiQ08426
ProteomicsDBi58608 [Q08426-1]
58609 [Q08426-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
33832 311 antibodies

The DNASU plasmid repository

More...
DNASUi
1962

Genome annotation databases

EnsembliENST00000231887; ENSP00000231887; ENSG00000113790 [Q08426-1]
ENST00000456310; ENSP00000387746; ENSG00000113790 [Q08426-2]
GeneIDi1962
KEGGihsa:1962
UCSCiuc003fpf.3 human [Q08426-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1962
DisGeNETi1962

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EHHADH
HGNCiHGNC:3247 EHHADH
HPAiENSG00000113790 Group enriched (kidney, liver)
MalaCardsiEHHADH
MIMi607037 gene
615605 phenotype
neXtProtiNX_Q08426
OpenTargetsiENSG00000113790
Orphaneti300 Bifunctional enzyme deficiency
3337 Primary Fanconi syndrome
PharmGKBiPA27682

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1683 Eukaryota
COG1024 LUCA
COG1250 LUCA
GeneTreeiENSGT00940000157516
HOGENOMiCLU_009834_16_3_1
InParanoidiQ08426
KOiK07514
OMAiTGAGWPF
OrthoDBi219667at2759
PhylomeDBiQ08426
TreeFamiTF316708

Enzyme and pathway databases

UniPathwayiUPA00659
BioCyciMetaCyc:HS03720-MONOMER
ReactomeiR-HSA-390247 Beta-oxidation of very long chain fatty acids
R-HSA-9033241 Peroxisomal protein import
SABIO-RKiQ08426

Miscellaneous databases

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

More...
ChiTaRSi
EHHADH human

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

More...
GenomeRNAii
1962
PharosiQ08426 Tbio

Protein Ontology

More...
PROi
PR:Q08426
RNActiQ08426 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000113790 Expressed in liver and 196 other tissues
ExpressionAtlasiQ08426 baseline and differential
GenevisibleiQ08426 HS

Family and domain databases

InterProiView protein in InterPro
IPR006180 3-OHacyl-CoA_DH_CS
IPR006176 3-OHacyl-CoA_DH_NAD-bd
IPR006108 3HC_DH_C
IPR008927 6-PGluconate_DH-like_C_sf
IPR029045 ClpP/crotonase-like_dom_sf
IPR018376 Enoyl-CoA_hyd/isom_CS
IPR001753 Enoyl-CoA_hydra/iso
IPR036291 NAD(P)-bd_dom_sf
PfamiView protein in Pfam
PF00725 3HCDH, 2 hits
PF02737 3HCDH_N, 1 hit
PF00378 ECH_1, 1 hit
SUPFAMiSSF48179 SSF48179, 2 hits
SSF51735 SSF51735, 1 hit
SSF52096 SSF52096, 1 hit
PROSITEiView protein in PROSITE
PS00067 3HCDH, 1 hit
PS00166 ENOYL_COA_HYDRATASE, 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 nameiECHP_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: Q08426
Secondary accession number(s): A8K6Y3
, B4DWG3, D3DNU0, Q58EZ5
<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: October 1, 1994
Last sequence update: February 10, 2009
Last modified: April 22, 2020
This is version 199 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

Reference proteome

Documents

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