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Protein

Trifunctional enzyme subunit alpha, mitochondrial

Gene

HADHA

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

Bifunctional subunit.

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

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

This protein is involved in the pathway fatty acid beta-oxidation, which is part of Lipid metabolism.
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 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>Sitei151Important for catalytic activityBy similarity1
Sitei173Important 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 functionLyase, Multifunctional enzyme, Oxidoreductase
Biological processFatty acid metabolism, Lipid metabolism
LigandNAD

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS01481-MONOMER

Reactome - a knowledgebase of biological pathways and processes

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

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P40939

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:000000247

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Trifunctional enzyme subunit alpha, mitochondrial
Alternative name(s):
78 kDa gastrin-binding protein
TP-alpha
Including the following 2 domains:
Long-chain enoyl-CoA hydratase (EC:4.2.1.17)
Long chain 3-hydroxyacyl-CoA dehydrogenase (EC:1.1.1.211)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HADHA
Synonyms:HADH
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000084754.10

Human Gene Nomenclature Database

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HGNCi
HGNC:4801 HADHA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600890 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P40939

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

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

Keywords - Cellular componenti

Mitochondrion

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

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

Mitochondrial trifunctional protein deficiency (MTPD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction, respiratory failure. Sudden infant death may occur. Most patients die from heart failure.
See also OMIM:609015
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_021125282V → D in MTPD; mild phenotype with slowly progressive myopathy and sensorimotor polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs137852773EnsemblClinVar.1
Natural variantiVAR_021126305I → N in MTPD; mild phenotype with slowly progressive myopathy and sensorimotor polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs137852774EnsemblClinVar.1
Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced.
See also OMIM:609016
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021127342L → P in LCHAD deficiency. 1 PublicationCorresponds to variant dbSNP:rs137852772EnsemblClinVar.1
Maternal acute fatty liver of pregnancy (AFLP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSevere maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome).
See also OMIM:609016

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3030

MalaCards human disease database

More...
MalaCardsi
HADHA
MIMi609015 phenotype
609016 phenotype

Open Targets

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OpenTargetsi
ENSG00000084754

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

More...
Orphaneti
243367 Acute fatty liver of pregnancy
5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
746 Mitochondrial trifunctional protein deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29175

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00157 NADH

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HADHA

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20141376

<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 – 36MitochondrionSequence analysisAdd BLAST36
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000740337 – 763Trifunctional enzyme subunit alpha, mitochondrialAdd BLAST727

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 residuei46N6-acetyllysine; alternateBy similarity1
Modified residuei46N6-succinyllysine; alternateBy similarity1
Modified residuei60N6-acetyllysine; alternateBy similarity1
Modified residuei60N6-succinyllysine; alternateBy similarity1
Modified residuei129N6-acetyllysineBy similarity1
Modified residuei166N6-acetyllysine; alternateBy similarity1
Modified residuei166N6-succinyllysine; alternateBy similarity1
Modified residuei213N6-succinyllysineBy similarity1
Modified residuei214N6-acetyllysine; alternateBy similarity1
Modified residuei214N6-succinyllysine; alternateBy similarity1
Modified residuei230N6-succinyllysineBy similarity1
Modified residuei249N6-acetyllysine; alternateBy similarity1
Modified residuei249N6-succinyllysine; alternateBy similarity1
Modified residuei289N6-acetyllysineBy similarity1
Modified residuei295N6-acetyllysineCombined sources1
Modified residuei303N6-acetyllysine; alternateCombined sources1
Modified residuei303N6-succinyllysine; alternateBy similarity1
Modified residuei316PhosphoserineBy similarity1
Modified residuei326N6-acetyllysine; alternateBy similarity1
Modified residuei326N6-succinyllysine; alternateBy similarity1
Modified residuei334N6-acetyllysine; alternateBy similarity1
Modified residuei334N6-succinyllysine; alternateBy similarity1
Modified residuei350N6-acetyllysine; alternateBy similarity1
Modified residuei350N6-succinyllysine; alternateBy similarity1
Modified residuei353N6-acetyllysineBy similarity1
Modified residuei395PhosphothreonineCombined sources1
Modified residuei399Omega-N-methylarginineBy similarity1
Modified residuei406N6-acetyllysine; alternateCombined sources1
Modified residuei406N6-succinyllysine; alternateBy similarity1
Modified residuei411N6-acetyllysine; alternateBy similarity1
Modified residuei411N6-succinyllysine; alternateBy similarity1
Modified residuei415N6-succinyllysineBy similarity1
Modified residuei419PhosphoserineBy similarity1
Modified residuei440N6-succinyllysineBy similarity1
Modified residuei460N6-acetyllysine; alternateBy similarity1
Modified residuei460N6-succinyllysine; alternateBy similarity1
Modified residuei505N6-acetyllysine; alternateCombined sources1
Modified residuei505N6-succinyllysine; alternateBy similarity1
Modified residuei519N6-acetyllysine; alternateBy similarity1
Modified residuei519N6-succinyllysine; alternateBy similarity1
Modified residuei540N6-acetyllysineCombined sources1
Modified residuei569N6-acetyllysine; alternateBy similarity1
Modified residuei569N6-succinyllysine; alternateBy similarity1
Modified residuei634N6-succinyllysineBy similarity1
Modified residuei644N6-acetyllysine; alternateCombined sources1
Modified residuei644N6-succinyllysine; alternateBy similarity1
Modified residuei646N6-succinyllysineBy similarity1
Modified residuei650PhosphoserineBy similarity1
Modified residuei664N6-acetyllysine; alternateBy similarity1
Modified residuei664N6-succinyllysine; alternateBy similarity1
Modified residuei728N6-acetyllysine; alternateBy similarity1
Modified residuei728N6-succinyllysine; alternateBy similarity1
Modified residuei735N6-acetyllysineBy similarity1
Modified residuei756PhosphoserineCombined sources1
Modified residuei759N6-acetyllysine; alternateBy similarity1
Modified residuei759N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P40939

MaxQB - The MaxQuant DataBase

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MaxQBi
P40939

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

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PaxDbi
P40939

PeptideAtlas

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PeptideAtlasi
P40939

PRoteomics IDEntifications database

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PRIDEi
P40939

ProteomicsDB human proteome resource

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ProteomicsDBi
55392

2D gel databases

REPRODUCTION-2DPAGE

More...
REPRODUCTION-2DPAGEi
IPI00031522

University College Dublin 2-DE Proteome Database

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UCD-2DPAGEi
P40939

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P40939

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

More...
PhosphoSitePlusi
P40939

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P40939

<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
ENSG00000084754 Expressed in 242 organ(s), highest expression level in gastrocnemius

CleanEx database of gene expression profiles

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CleanExi
HS_HADH
HS_HADHA

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P40939 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P40939 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA015536
HPA056070

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits.1 Publication

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109280, 120 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P40939

Protein interaction database and analysis system

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IntActi
P40939, 68 interactors

Molecular INTeraction database

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MINTi
P40939

STRING: functional protein association networks

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STRINGi
9606.ENSP00000370023

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P40939

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

More...
SMRi
P40939

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

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

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

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1683 Eukaryota
COG1024 LUCA
COG1250 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154677

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000261346

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005557

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P40939

KEGG Orthology (KO)

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KOi
K07515

Identification of Orthologs from Complete Genome Data

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OMAi
PFRYMDT

Database of Orthologous Groups

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OrthoDBi
EOG091G02LF

Database for complete collections of gene phylogenies

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PhylomeDBi
P40939

TreeFam database of animal gene trees

More...
TreeFami
TF352288

Family and domain databases

Integrated resource of protein families, domains and functional sites

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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
IPR012803 Fa_ox_alpha_mit
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

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR02441 fa_ox_alpha_mit, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P40939-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVACRAIGIL SRFSAFRILR SRGYICRNFT GSSALLTRTH INYGVKGDVA
60 70 80 90 100
VVRINSPNSK VNTLSKELHS EFSEVMNEIW ASDQIRSAVL ISSKPGCFIA
110 120 130 140 150
GADINMLAAC KTLQEVTQLS QEAQRIVEKL EKSTKPIVAA INGSCLGGGL
160 170 180 190 200
EVAISCQYRI ATKDRKTVLG TPEVLLGALP GAGGTQRLPK MVGVPAALDM
210 220 230 240 250
MLTGRSIRAD RAKKMGLVDQ LVEPLGPGLK PPEERTIEYL EEVAITFAKG
260 270 280 290 300
LADKKISPKR DKGLVEKLTA YAMTIPFVRQ QVYKKVEEKV RKQTKGLYPA
310 320 330 340 350
PLKIIDVVKT GIEQGSDAGY LCESQKFGEL VMTKESKALM GLYHGQVLCK
360 370 380 390 400
KNKFGAPQKD VKHLAILGAG LMGAGIAQVS VDKGLKTILK DATLTALDRG
410 420 430 440 450
QQQVFKGLND KVKKKALTSF ERDSIFSNLT GQLDYQGFEK ADMVIEAVFE
460 470 480 490 500
DLSLKHRVLK EVEAVIPDHC IFASNTSALP ISEIAAVSKR PEKVIGMHYF
510 520 530 540 550
SPVDKMQLLE IITTEKTSKD TSASAVAVGL KQGKVIIVVK DGPGFYTTRC
560 570 580 590 600
LAPMMSEVIR ILQEGVDPKK LDSLTTSFGF PVGAATLVDE VGVDVAKHVA
610 620 630 640 650
EDLGKVFGER FGGGNPELLT QMVSKGFLGR KSGKGFYIYQ EGVKRKDLNS
660 670 680 690 700
DMDSILASLK LPPKSEVSSD EDIQFRLVTR FVNEAVMCLQ EGILATPAEG
710 720 730 740 750
DIGAVFGLGF PPCLGGPFRF VDLYGAQKIV DRLKKYEAAY GKQFTPCQLL
760
ADHANSPNKK FYQ
Length:763
Mass (Da):83,000
Last modified:April 3, 2002 - 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:i247FF7B4E48FB484
GO
Isoform 2 (identifier: P40939-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     61-82: VNTLSKELHSEFSEVMNEIWAS → HVSRLQDPSRSNTAITRSTENS
     83-763: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:82
Mass (Da):9,054
Checksum:i0AE1BB06A4C4A924
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YFD6H0YFD6_HUMAN
Trifunctional enzyme subunit alpha,...
HADHA
792Annotation 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>
A0A2R8Y4F5A0A2R8Y4F5_HUMAN
Trifunctional enzyme subunit alpha,...
HADHA
728Annotation 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>
A0A2R8YG21A0A2R8YG21_HUMAN
Trifunctional enzyme subunit alpha,...
HADHA
499Annotation 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>
A0A2R8Y688A0A2R8Y688_HUMAN
Trifunctional enzyme subunit alpha,...
HADHA
357Annotation 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>
A0A2R8YDM1A0A2R8YDM1_HUMAN
Trifunctional enzyme subunit alpha,...
HADHA
37Annotation 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>
A0A2R8Y4E0A0A2R8Y4E0_HUMAN
Trifunctional enzyme subunit alpha,...
HADHA
54Annotation 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 BAG63804 differs from that shown. Wrong choice of frame.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 conflicti146L → V in BAA03941 (PubMed:8135828).Curated1
Sequence conflicti152V → L in AAA56664 (PubMed:7918661).Curated1
Sequence conflicti171T → A in AAA56664 (PubMed:7918661).Curated1
Sequence conflicti178A → I in AAA56664 (PubMed:7918661).Curated1
Sequence conflicti197 – 198AL → VF in AAA56664 (PubMed:7918661).Curated2
Sequence conflicti206S → N in AAA56664 (PubMed:7918661).Curated1
Sequence conflicti211R → S in AAA56664 (PubMed:7918661).Curated1
Sequence conflicti576T → P in AAA56664 (PubMed:7918661).Curated1
Sequence conflicti694L → S in BAA03941 (PubMed:8135828).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021125282V → D in MTPD; mild phenotype with slowly progressive myopathy and sensorimotor polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs137852773EnsemblClinVar.1
Natural variantiVAR_021126305I → N in MTPD; mild phenotype with slowly progressive myopathy and sensorimotor polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs137852774EnsemblClinVar.1
Natural variantiVAR_021127342L → P in LCHAD deficiency. 1 PublicationCorresponds to variant dbSNP:rs137852772EnsemblClinVar.1
Natural variantiVAR_048908358Q → K. Corresponds to variant dbSNP:rs2229420EnsemblClinVar.1
Natural variantiVAR_002273510E → Q in AFLP and LCHAD deficiency; loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs137852769EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05901061 – 82VNTLS…EIWAS → HVSRLQDPSRSNTAITRSTE NS in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_05901183 – 763Missing in isoform 2. 1 PublicationAdd BLAST681

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
D16480 mRNA Translation: BAA03941.1
U04627 mRNA Translation: AAA56664.1
AK302532 mRNA Translation: BAG63804.1 Sequence problems.
AK313027 mRNA Translation: BAG35861.1
AC010896 Genomic DNA Translation: AAY14643.1
AC011742 Genomic DNA Translation: AAX93141.1
CH471053 Genomic DNA Translation: EAX00703.1
BC009235 mRNA Translation: AAH09235.1
AB020811 Genomic DNA Translation: BAA76735.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1721.1 [P40939-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
JC2108

NCBI Reference Sequences

More...
RefSeqi
NP_000173.2, NM_000182.4 [P40939-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.516032

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000380649; ENSP00000370023; ENSG00000084754 [P40939-1]
ENST00000646483; ENSP00000496185; ENSG00000084754 [P40939-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3030

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3030

UCSC genome browser

More...
UCSCi
uc002rgy.3 human [P40939-1]

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
D16480 mRNA Translation: BAA03941.1
U04627 mRNA Translation: AAA56664.1
AK302532 mRNA Translation: BAG63804.1 Sequence problems.
AK313027 mRNA Translation: BAG35861.1
AC010896 Genomic DNA Translation: AAY14643.1
AC011742 Genomic DNA Translation: AAX93141.1
CH471053 Genomic DNA Translation: EAX00703.1
BC009235 mRNA Translation: AAH09235.1
AB020811 Genomic DNA Translation: BAA76735.1
CCDSiCCDS1721.1 [P40939-1]
PIRiJC2108
RefSeqiNP_000173.2, NM_000182.4 [P40939-1]
UniGeneiHs.516032

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5ZQZelectron microscopy4.20A/C1-763[»]
5ZRVelectron microscopy7.70A/C/E/G1-763[»]
6DV2X-ray3.60G/H/I/J/K/L37-763[»]
ProteinModelPortaliP40939
SMRiP40939
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109280, 120 interactors
CORUMiP40939
IntActiP40939, 68 interactors
MINTiP40939
STRINGi9606.ENSP00000370023

Chemistry databases

DrugBankiDB00157 NADH
SwissLipidsiSLP:000000247

PTM databases

iPTMnetiP40939
PhosphoSitePlusiP40939
SwissPalmiP40939

Polymorphism and mutation databases

BioMutaiHADHA
DMDMi20141376

2D gel databases

REPRODUCTION-2DPAGEiIPI00031522
UCD-2DPAGEiP40939

Proteomic databases

EPDiP40939
MaxQBiP40939
PaxDbiP40939
PeptideAtlasiP40939
PRIDEiP40939
ProteomicsDBi55392

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3030
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380649; ENSP00000370023; ENSG00000084754 [P40939-1]
ENST00000646483; ENSP00000496185; ENSG00000084754 [P40939-2]
GeneIDi3030
KEGGihsa:3030
UCSCiuc002rgy.3 human [P40939-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3030
DisGeNETi3030
EuPathDBiHostDB:ENSG00000084754.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HADHA
HGNCiHGNC:4801 HADHA
HPAiHPA015536
HPA056070
MalaCardsiHADHA
MIMi600890 gene
609015 phenotype
609016 phenotype
neXtProtiNX_P40939
OpenTargetsiENSG00000084754
Orphaneti243367 Acute fatty liver of pregnancy
5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
746 Mitochondrial trifunctional protein deficiency
PharmGKBiPA29175

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1683 Eukaryota
COG1024 LUCA
COG1250 LUCA
GeneTreeiENSGT00940000154677
HOGENOMiHOG000261346
HOVERGENiHBG005557
InParanoidiP40939
KOiK07515
OMAiPFRYMDT
OrthoDBiEOG091G02LF
PhylomeDBiP40939
TreeFamiTF352288

Enzyme and pathway databases

UniPathwayi
UPA00659

BioCyciMetaCyc:HS01481-MONOMER
ReactomeiR-HSA-1482798 Acyl chain remodeling of CL
R-HSA-77285 Beta oxidation of myristoyl-CoA to lauroyl-CoA
R-HSA-77288 mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
R-HSA-77305 Beta oxidation of palmitoyl-CoA to myristoyl-CoA
R-HSA-77310 Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
R-HSA-77346 Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
R-HSA-77348 Beta oxidation of octanoyl-CoA to hexanoyl-CoA
R-HSA-77350 Beta oxidation of hexanoyl-CoA to butanoyl-CoA
SABIO-RKiP40939

Miscellaneous databases

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

More...
ChiTaRSi
HADHA human

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

More...
GenomeRNAii
3030

Protein Ontology

More...
PROi
PR:P40939

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000084754 Expressed in 242 organ(s), highest expression level in gastrocnemius
CleanExiHS_HADH
HS_HADHA
ExpressionAtlasiP40939 baseline and differential
GenevisibleiP40939 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
IPR012803 Fa_ox_alpha_mit
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
TIGRFAMsiTIGR02441 fa_ox_alpha_mit, 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...

<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 nameiECHA_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: P40939
Secondary accession number(s): B2R7L4
, B4DYP2, Q16679, Q53T69, Q53TA2, Q96GT7, Q9UQC5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: April 3, 2002
Last modified: December 5, 2018
This is version 213 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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