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Entry version 213 (29 Sep 2021)
Sequence version 1 (01 Oct 1996)
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Protein

Very long-chain specific acyl-CoA dehydrogenase, mitochondrial

Gene

ACADVL

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

Very long-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (PubMed:7668252, PubMed:9461620, PubMed:18227065, PubMed:9839948, PubMed:9599005).

The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (PubMed:7668252, PubMed:9461620, PubMed:18227065, PubMed:9839948).

Among the different mitochondrial acyl-CoA dehydrogenases, very long-chain specific acyl-CoA dehydrogenase acts specifically on acyl-CoAs with saturated 12 to 24 carbons long primary chains (PubMed:21237683, PubMed:9839948).

6 Publications

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

<p>This subsection of the '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

FAD2 Publications

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=4.4 µM for hexadecanoyl-CoA1 Publication

<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: mitochondrial fatty acid beta-oxidation

This protein is involved in the pathway mitochondrial fatty acid beta-oxidation, which is part of Lipid metabolism.3 Publications
View all proteins of this organism that are known to be involved in the pathway mitochondrial fatty acid beta-oxidation and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei462Proton acceptorCombined sources2 Publications1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 sitei562FADCombined sources1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 bindingi214 – 223FADCombined sources1 Publication10
Nucleotide bindingi249 – 251FADCombined sources1 Publication3
Nucleotide bindingi464 – 466FADCombined 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

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 functionOxidoreductase
Biological processFatty acid metabolism, Lipid metabolism
LigandFAD, Flavoprotein

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:ENSG00000072778-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
1.3.8.8, 2681
1.3.8.9, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
P49748

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-381038, XBP1(S) activates chaperone genes
R-HSA-77305, Beta oxidation of palmitoyl-CoA to myristoyl-CoA

SIGNOR Signaling Network Open Resource

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SIGNORi
P49748

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

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UniPathwayi
UPA00660

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001330 [P49748-2]
SLP:000001332

<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:
Very long-chain specific acyl-CoA dehydrogenase, mitochondrial1 Publication (EC:1.3.8.96 Publications)
Short name:
VLCAD1 Publication
<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:ACADVLImported
Synonyms:VLCAD1 Publication
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:92, ACADVL

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609575, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P49748

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000072778

<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

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

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

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

Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)10 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting.
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_000331130Missing in ACADVLD. 2 PublicationsCorresponds to variant dbSNP:rs387906251Ensembl.1
Natural variantiVAR_000332158T → N in ACADVLD. 1
Natural variantiVAR_000333159Q → R in ACADVLD. Corresponds to variant dbSNP:rs746688190Ensembl.1
Natural variantiVAR_000334174V → M in ACADVLD. Corresponds to variant dbSNP:rs369560930EnsemblClinVar.1
Natural variantiVAR_000335185G → S in ACADVLD. Corresponds to variant dbSNP:rs545215807EnsemblClinVar.1
Natural variantiVAR_010101213A → P in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs140629318EnsemblClinVar.1
Natural variantiVAR_000336218E → K in ACADVLD. Corresponds to variant dbSNP:rs1432183079EnsemblClinVar.1
Natural variantiVAR_000337243L → R in ACADVLD. 1
Natural variantiVAR_010102247K → E in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs387906253EnsemblClinVar.1
Natural variantiVAR_000338247K → T in ACADVLD. 1
Natural variantiVAR_000339260T → M in ACADVLD; decreased protein abundance; loss of fatty acid beta-oxidation. 4 PublicationsCorresponds to variant dbSNP:rs113994168EnsemblClinVar.1
Natural variantiVAR_000340278Missing in ACADVLD. 1 Publication1
Natural variantiVAR_000341281A → D in ACADVLD. 1 Publication1
Natural variantiVAR_000342283V → A in ACADVLD; decreased protein abundance; decreased fatty acid beta-oxidation. 4 PublicationsCorresponds to variant dbSNP:rs113994167EnsemblClinVar.1
Natural variantiVAR_000343290G → D in ACADVLD. Corresponds to variant dbSNP:rs866464446Ensembl.1
Natural variantiVAR_000344294G → E in ACADVLD. Corresponds to variant dbSNP:rs200573371EnsemblClinVar.1
Natural variantiVAR_000345299K → N in ACADVLD. Corresponds to variant dbSNP:rs774716484Ensembl.1
Natural variantiVAR_000346299Missing in ACADVLD. 1 Publication1
Natural variantiVAR_000347317V → A in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs398123095EnsemblClinVar.1
Natural variantiVAR_000348352M → V in ACADVLD. 1
Natural variantiVAR_000349366R → C in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs771874163EnsemblClinVar.1
Natural variantiVAR_000350366R → H in ACADVLD. Corresponds to variant dbSNP:rs112406105EnsemblClinVar.1
Natural variantiVAR_000351381Missing in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs1057517281Ensembl.1
Natural variantiVAR_000352382K → Q in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs118204015EnsemblClinVar.1
Natural variantiVAR_000353405D → H in ACADVLD. 1
Natural variantiVAR_000354441G → D in ACADVLD. 2 PublicationsCorresponds to variant dbSNP:rs2309689EnsemblClinVar.1
Natural variantiVAR_000355450R → H in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs118204016EnsemblClinVar.1
Natural variantiVAR_000356453R → Q in ACADVLD. Corresponds to variant dbSNP:rs138058572EnsemblClinVar.1
Natural variantiVAR_000357454D → N in ACADVLD. Corresponds to variant dbSNP:rs1419606204EnsemblClinVar.1
Natural variantiVAR_000358456R → H in ACADVLD. Corresponds to variant dbSNP:rs794727112EnsemblClinVar.1
Natural variantiVAR_010103458F → L in ACADVLD; loss of acyl-CoA dehydrogenase activity; Loss of FAD cofactor-binding. 2 PublicationsCorresponds to variant dbSNP:rs118204017EnsemblClinVar.1
Natural variantiVAR_000359459R → W in ACADVLD. Corresponds to variant dbSNP:rs766742117EnsemblClinVar.1
Natural variantiVAR_000360463G → E in ACADVLD. Corresponds to variant dbSNP:rs200366828EnsemblClinVar.1
Natural variantiVAR_000361469R → Q in ACADVLD. Corresponds to variant dbSNP:rs398123083EnsemblClinVar.1
Natural variantiVAR_000362469R → W in ACADVLD; decreased protein abundance; loss of fatty acid beta-oxidation. 2 PublicationsCorresponds to variant dbSNP:rs113994170EnsemblClinVar.1
Natural variantiVAR_010104490A → P in ACADVLD; decreased association with mitochondrial inner membrane; could change substrate specificity with decreased affinity for tetradecanoyl-CoA and hexadecanoyl-CoA. 3 PublicationsCorresponds to variant dbSNP:rs759775666EnsemblClinVar.1
Natural variantiVAR_000363502L → P in ACADVLD; decreased association with mitochondrial inner membrane; no effect on acyl-CoA dehydrogenase activity. 2 Publications1
Natural variantiVAR_010105534E → K in ACADVLD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs2230180EnsemblClinVar.1
Natural variantiVAR_083892583S → W in ACADVLD; Loss of homodimerization; loss of localization to mitochondrial inner membrane. 1 PublicationCorresponds to variant dbSNP:rs1085307648EnsemblClinVar.1
Natural variantiVAR_000364602L → I in ACADVLD. 1 Publication1
Natural variantiVAR_000365613R → W in ACADVLD; loss of protein expression. 3 PublicationsCorresponds to variant dbSNP:rs118204014EnsemblClinVar.1
Natural variantiVAR_010106615R → Q in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs148584617EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi458F → T: Decreased acyl-CoA dehydrogenase activity. Decreased affinity for acyl-CoA. No effect on FAD cofactor-binding. 1 Publication1
Mutagenesisi458F → V: Loss of acyl-CoA dehydrogenase activity. Loss of FAD cofactor-binding. 1 Publication1
Mutagenesisi458F → Y: Decreased acyl-CoA dehydrogenase activity. No effect on affinity for acyl-CoA. Decreased FAD cofactor-binding. 1 Publication1
Mutagenesisi462E → D: Decreased acyl-CoA dehydrogenase activity. No effect on affinity for acyl-CoA. No effect on FAD cofactor-binding. 1 Publication1
Mutagenesisi462E → Q: Loss of acyl-CoA dehydrogenase activity. No effect on FAD cofactor-binding. 1 Publication1
Mutagenesisi490A → G, V, S, D or H: Changed substrate specificity with decreased affinity for tetradecanoyl-CoA and hexadecanoyl-CoA. 1 Publication1

Keywords - Diseasei

Cardiomyopathy, Disease variant

Organism-specific databases

DisGeNET

More...
DisGeNETi
37

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

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GeneReviewsi
ACADVL

MalaCards human disease database

More...
MalaCardsi
ACADVL
MIMi201475, phenotype

Open Targets

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OpenTargetsi
ENSG00000072778

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

More...
Orphaneti
26793, Very long chain acyl-CoA dehydrogenase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24428

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P49748, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4105892

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ACADVL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1703068

<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 – 40MitochondrionCombined sources1 PublicationAdd BLAST40
<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_000000051541 – 655Very long-chain specific acyl-CoA dehydrogenase, mitochondrialAdd BLAST615

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 residuei51N6-acetyllysineBy similarity1
Modified residuei71N6-acetyllysine; alternateBy similarity1
Modified residuei71N6-succinyllysine; alternateBy similarity1
Modified residuei195N6-succinyllysineBy similarity1
Modified residuei237S-nitrosocysteineBy similarity1
Modified residuei239N6-acetyllysine; alternateCombined sources1
Modified residuei239N6-succinyllysine; alternateBy similarity1
Modified residuei276N6-acetyllysine; alternateBy similarity1
Modified residuei276N6-succinyllysine; alternateBy similarity1
Modified residuei278N6-acetyllysine; alternateBy similarity1
Modified residuei278N6-succinyllysine; alternateBy similarity1
Modified residuei298N6-acetyllysineBy similarity1
Modified residuei331N6-acetyllysine; alternateCombined sources1
Modified residuei331N6-succinyllysine; alternateBy similarity1
Modified residuei372N6-succinyllysineBy similarity1
Modified residuei482N6-acetyllysine; alternateBy similarity1
Modified residuei482N6-succinyllysine; alternateBy similarity1
Modified residuei517PhosphoserineCombined sources1
Modified residuei522PhosphoserineCombined sources1
Modified residuei550N6-acetyllysineBy similarity1
Modified residuei556N6-acetyllysine; alternateBy similarity1
Modified residuei556N6-succinyllysine; alternateBy similarity1
Modified residuei639N6-succinyllysineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

S-nitrosylation at Cys-237 in liver improves catalytic efficiency.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein, S-nitrosylation

Proteomic databases

The CPTAC Assay portal

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CPTACi
CPTAC-454
CPTAC-455

Encyclopedia of Proteome Dynamics

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EPDi
P49748

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P49748

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P49748

MaxQB - The MaxQuant DataBase

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MaxQBi
P49748

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

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PaxDbi
P49748

PeptideAtlas

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PeptideAtlasi
P49748

PRoteomics IDEntifications database

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PRIDEi
P49748

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
25916
56061 [P49748-1]
56062 [P49748-2]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
P49748

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
P49748, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P49748

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

More...
PhosphoSitePlusi
P49748

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P49748

<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
ENSG00000072778, Expressed in left lobe of thyroid gland and 248 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P49748, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P49748, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000072778, 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_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

Homodimer (PubMed:9461620, PubMed:18227065, PubMed:9599005). Homodimerizes after import into the mitochondrion (PubMed:9599005).

3 Publications

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
106555, 97 interactors

Protein interaction database and analysis system

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IntActi
P49748, 40 interactors

Molecular INTeraction database

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MINTi
P49748

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000438689

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P49748, 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

1655
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Small Angle Scattering Biological Data Bank

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SASBDBi
P49748

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

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SMRi
P49748

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P49748

<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>Regioni23 – 42DisorderedSequence analysisAdd BLAST20
Regioni41 – 482Catalytic1 PublicationAdd BLAST442
Regioni461 – 463Substrate bindingCombined sources1 Publication3
Regioni483 – 516Membrane-anchoring1 PublicationAdd BLAST34

<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
KOG0137, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158535

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_018204_11_2_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P49748

Identification of Orthologs from Complete Genome Data

More...
OMAi
NAFMGLR

Database of Orthologous Groups

More...
OrthoDBi
819314at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P49748

TreeFam database of animal gene trees

More...
TreeFami
TF105053

Family and domain databases

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

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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 3 <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 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P49748-1) [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
MQAARMAASL GRQLLRLGGG SSRLTALLGQ PRPGPARRPY AGGAAQLALD
60 70 80 90 100
KSDSHPSDAL TRKKPAKAES KSFAVGMFKG QLTTDQVFPY PSVLNEEQTQ
110 120 130 140 150
FLKELVEPVS RFFEEVNDPA KNDALEMVEE TTWQGLKELG AFGLQVPSEL
160 170 180 190 200
GGVGLCNTQY ARLVEIVGMH DLGVGITLGA HQSIGFKGIL LFGTKAQKEK
210 220 230 240 250
YLPKLASGET VAAFCLTEPS SGSDAASIRT SAVPSPCGKY YTLNGSKLWI
260 270 280 290 300
SNGGLADIFT VFAKTPVTDP ATGAVKEKIT AFVVERGFGG ITHGPPEKKM
310 320 330 340 350
GIKASNTAEV FFDGVRVPSE NVLGEVGSGF KVAMHILNNG RFGMAAALAG
360 370 380 390 400
TMRGIIAKAV DHATNRTQFG EKIHNFGLIQ EKLARMVMLQ YVTESMAYMV
410 420 430 440 450
SANMDQGATD FQIEAAISKI FGSEAAWKVT DECIQIMGGM GFMKEPGVER
460 470 480 490 500
VLRDLRIFRI FEGTNDILRL FVALQGCMDK GKELSGLGSA LKNPFGNAGL
510 520 530 540 550
LLGEAGKQLR RRAGLGSGLS LSGLVHPELS RSGELAVRAL EQFATVVEAK
560 570 580 590 600
LIKHKKGIVN EQFLLQRLAD GAIDLYAMVV VLSRASRSLS EGHPTAQHEK
610 620 630 640 650
MLCDTWCIEA AARIREGMAA LQSDPWQQEL YRNFKSISKA LVERGGVVTS

NPLGF
Length:655
Mass (Da):70,390
Last modified:October 1, 1996 - v1
<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:iA5594D1EA7911D19
GO
Isoform 2 (identifier: P49748-2) [UniParc]FASTAAdd to basket
Also known as: DeltaEx3 VLCAD1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     47-68: Missing.

Show »
Length:633
Mass (Da):68,058
Checksum:iD84E8F01DF1E8958
GO
Isoform 3 (identifier: P49748-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MQAARMAASLGRQLLRLGGG → MLGGLAAAAGTRIMGKEIEAEAQRPLRQTWRPGQPPAMTAKTM

Show »
Length:678
Mass (Da):72,927
Checksum:i65A9CFB675A59E94
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
J3QKU9J3QKU9_HUMAN
Very long-chain-specific acyl-CoA d...
ACADVL
155Annotation 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>
K7EQP4K7EQP4_HUMAN
Very long-chain-specific acyl-CoA d...
ACADVL
224Annotation 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>
K7EJW8K7EJW8_HUMAN
Very long-chain-specific acyl-CoA d...
ACADVL
157Annotation 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>
J9JID6J9JID6_HUMAN
Very long-chain-specific acyl-CoA d...
ACADVL
39Annotation 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>
J3KS89J3KS89_HUMAN
Very long-chain-specific acyl-CoA d...
ACADVL
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>
J3KSR4J3KSR4_HUMAN
Very long-chain-specific acyl-CoA d...
ACADVL
204Annotation 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>
G3V1M7G3V1M7_HUMAN
Very long-chain-specific acyl-CoA d...
ACADVL
282Annotation 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>
J3QRJ8J3QRJ8_HUMAN
Very long-chain-specific acyl-CoA d...
ACADVL
194Annotation 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>
K7EMF8K7EMF8_HUMAN
Very long-chain-specific acyl-CoA d...
ACADVL
45Annotation 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 conflicti193G → C in BAA29057 (PubMed:8554625).Curated1
Sequence conflicti200K → E in BAG57027 (PubMed:14702039).Curated1
Sequence conflicti541E → K in BAG57027 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02928617L → F. Corresponds to variant dbSNP:rs2230179EnsemblClinVar.1
Natural variantiVAR_00033043G → D. Corresponds to variant dbSNP:rs2230178EnsemblClinVar.1
Natural variantiVAR_04817665P → L. Corresponds to variant dbSNP:rs28934585EnsemblClinVar.1
Natural variantiVAR_000331130Missing in ACADVLD. 2 PublicationsCorresponds to variant dbSNP:rs387906251Ensembl.1
Natural variantiVAR_000332158T → N in ACADVLD. 1
Natural variantiVAR_000333159Q → R in ACADVLD. Corresponds to variant dbSNP:rs746688190Ensembl.1
Natural variantiVAR_000334174V → M in ACADVLD. Corresponds to variant dbSNP:rs369560930EnsemblClinVar.1
Natural variantiVAR_000335185G → S in ACADVLD. Corresponds to variant dbSNP:rs545215807EnsemblClinVar.1
Natural variantiVAR_010101213A → P in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs140629318EnsemblClinVar.1
Natural variantiVAR_000336218E → K in ACADVLD. Corresponds to variant dbSNP:rs1432183079EnsemblClinVar.1
Natural variantiVAR_000337243L → R in ACADVLD. 1
Natural variantiVAR_010102247K → E in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs387906253EnsemblClinVar.1
Natural variantiVAR_000338247K → T in ACADVLD. 1
Natural variantiVAR_000339260T → M in ACADVLD; decreased protein abundance; loss of fatty acid beta-oxidation. 4 PublicationsCorresponds to variant dbSNP:rs113994168EnsemblClinVar.1
Natural variantiVAR_000340278Missing in ACADVLD. 1 Publication1
Natural variantiVAR_000341281A → D in ACADVLD. 1 Publication1
Natural variantiVAR_000342283V → A in ACADVLD; decreased protein abundance; decreased fatty acid beta-oxidation. 4 PublicationsCorresponds to variant dbSNP:rs113994167EnsemblClinVar.1
Natural variantiVAR_000343290G → D in ACADVLD. Corresponds to variant dbSNP:rs866464446Ensembl.1
Natural variantiVAR_000344294G → E in ACADVLD. Corresponds to variant dbSNP:rs200573371EnsemblClinVar.1
Natural variantiVAR_000345299K → N in ACADVLD. Corresponds to variant dbSNP:rs774716484Ensembl.1
Natural variantiVAR_000346299Missing in ACADVLD. 1 Publication1
Natural variantiVAR_000347317V → A in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs398123095EnsemblClinVar.1
Natural variantiVAR_000348352M → V in ACADVLD. 1
Natural variantiVAR_011990359A → S. Corresponds to variant dbSNP:rs1051701Ensembl.1
Natural variantiVAR_000349366R → C in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs771874163EnsemblClinVar.1
Natural variantiVAR_000350366R → H in ACADVLD. Corresponds to variant dbSNP:rs112406105EnsemblClinVar.1
Natural variantiVAR_000351381Missing in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs1057517281Ensembl.1
Natural variantiVAR_000352382K → Q in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs118204015EnsemblClinVar.1
Natural variantiVAR_000353405D → H in ACADVLD. 1
Natural variantiVAR_000354441G → D in ACADVLD. 2 PublicationsCorresponds to variant dbSNP:rs2309689EnsemblClinVar.1
Natural variantiVAR_000355450R → H in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs118204016EnsemblClinVar.1
Natural variantiVAR_000356453R → Q in ACADVLD. Corresponds to variant dbSNP:rs138058572EnsemblClinVar.1
Natural variantiVAR_000357454D → N in ACADVLD. Corresponds to variant dbSNP:rs1419606204EnsemblClinVar.1
Natural variantiVAR_000358456R → H in ACADVLD. Corresponds to variant dbSNP:rs794727112EnsemblClinVar.1
Natural variantiVAR_010103458F → L in ACADVLD; loss of acyl-CoA dehydrogenase activity; Loss of FAD cofactor-binding. 2 PublicationsCorresponds to variant dbSNP:rs118204017EnsemblClinVar.1
Natural variantiVAR_000359459R → W in ACADVLD. Corresponds to variant dbSNP:rs766742117EnsemblClinVar.1
Natural variantiVAR_000360463G → E in ACADVLD. Corresponds to variant dbSNP:rs200366828EnsemblClinVar.1
Natural variantiVAR_000361469R → Q in ACADVLD. Corresponds to variant dbSNP:rs398123083EnsemblClinVar.1
Natural variantiVAR_000362469R → W in ACADVLD; decreased protein abundance; loss of fatty acid beta-oxidation. 2 PublicationsCorresponds to variant dbSNP:rs113994170EnsemblClinVar.1
Natural variantiVAR_010104490A → P in ACADVLD; decreased association with mitochondrial inner membrane; could change substrate specificity with decreased affinity for tetradecanoyl-CoA and hexadecanoyl-CoA. 3 PublicationsCorresponds to variant dbSNP:rs759775666EnsemblClinVar.1
Natural variantiVAR_000363502L → P in ACADVLD; decreased association with mitochondrial inner membrane; no effect on acyl-CoA dehydrogenase activity. 2 Publications1
Natural variantiVAR_010105534E → K in ACADVLD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs2230180EnsemblClinVar.1
Natural variantiVAR_083892583S → W in ACADVLD; Loss of homodimerization; loss of localization to mitochondrial inner membrane. 1 PublicationCorresponds to variant dbSNP:rs1085307648EnsemblClinVar.1
Natural variantiVAR_000364602L → I in ACADVLD. 1 Publication1
Natural variantiVAR_000365613R → W in ACADVLD; loss of protein expression. 3 PublicationsCorresponds to variant dbSNP:rs118204014EnsemblClinVar.1
Natural variantiVAR_010106615R → Q in ACADVLD. 1 PublicationCorresponds to variant dbSNP:rs148584617EnsemblClinVar.1
Natural variantiVAR_011991623S → F. Corresponds to variant dbSNP:rs13383Ensembl.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_0460311 – 20MQAAR…RLGGG → MLGGLAAAAGTRIMGKEIEA EAQRPLRQTWRPGQPPAMTA KTM in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_00773447 – 68Missing in isoform 2. 1 PublicationAdd BLAST22

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
D43682 mRNA Translation: BAA07781.1
L46590 Genomic DNA Translation: AAA79002.1
X86556 mRNA Translation: CAA60253.1
D78298 Genomic DNA Translation: BAA29057.1
AK293549 mRNA Translation: BAG57027.1
AC120057 Genomic DNA No translation available.
BC000399 mRNA Translation: AAH00399.1
BC012912 mRNA Translation: AAH12912.1
BC020218 mRNA Translation: AAH20218.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11090.1 [P49748-1]
CCDS42249.1 [P49748-2]
CCDS58509.1 [P49748-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
S54183

NCBI Reference Sequences

More...
RefSeqi
NP_000009.1, NM_000018.3 [P49748-1]
NP_001029031.1, NM_001033859.2 [P49748-2]
NP_001257376.1, NM_001270447.1 [P49748-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000350303; ENSP00000344152; ENSG00000072778 [P49748-2]
ENST00000356839; ENSP00000349297; ENSG00000072778 [P49748-1]
ENST00000543245; ENSP00000438689; ENSG00000072778 [P49748-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
37

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:37

UCSC genome browser

More...
UCSCi
uc002gev.5, human [P49748-1]

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
D43682 mRNA Translation: BAA07781.1
L46590 Genomic DNA Translation: AAA79002.1
X86556 mRNA Translation: CAA60253.1
D78298 Genomic DNA Translation: BAA29057.1
AK293549 mRNA Translation: BAG57027.1
AC120057 Genomic DNA No translation available.
BC000399 mRNA Translation: AAH00399.1
BC012912 mRNA Translation: AAH12912.1
BC020218 mRNA Translation: AAH20218.1
CCDSiCCDS11090.1 [P49748-1]
CCDS42249.1 [P49748-2]
CCDS58509.1 [P49748-3]
PIRiS54183
RefSeqiNP_000009.1, NM_000018.3 [P49748-1]
NP_001029031.1, NM_001033859.2 [P49748-2]
NP_001257376.1, NM_001270447.1 [P49748-3]

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
2UXWX-ray1.45A72-655[»]
3B96X-ray1.91A69-655[»]
SASBDBiP49748
SMRiP49748
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi106555, 97 interactors
IntActiP49748, 40 interactors
MINTiP49748
STRINGi9606.ENSP00000438689

Chemistry databases

ChEMBLiCHEMBL4105892
SwissLipidsiSLP:000001330 [P49748-2]
SLP:000001332

PTM databases

CarbonylDBiP49748
GlyGeniP49748, 1 site, 1 O-linked glycan (1 site)
iPTMnetiP49748
PhosphoSitePlusiP49748
SwissPalmiP49748

Genetic variation databases

BioMutaiACADVL
DMDMi1703068

Proteomic databases

CPTACiCPTAC-454
CPTAC-455
EPDiP49748
jPOSTiP49748
MassIVEiP49748
MaxQBiP49748
PaxDbiP49748
PeptideAtlasiP49748
PRIDEiP49748
ProteomicsDBi25916
56061 [P49748-1]
56062 [P49748-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
11798, 301 antibodies

The DNASU plasmid repository

More...
DNASUi
37

Genome annotation databases

EnsembliENST00000350303; ENSP00000344152; ENSG00000072778 [P49748-2]
ENST00000356839; ENSP00000349297; ENSG00000072778 [P49748-1]
ENST00000543245; ENSP00000438689; ENSG00000072778 [P49748-3]
GeneIDi37
KEGGihsa:37
UCSCiuc002gev.5, human [P49748-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
37
DisGeNETi37

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ACADVL
GeneReviewsiACADVL
HGNCiHGNC:92, ACADVL
HPAiENSG00000072778, Low tissue specificity
MalaCardsiACADVL
MIMi201475, phenotype
609575, gene
neXtProtiNX_P49748
OpenTargetsiENSG00000072778
Orphaneti26793, Very long chain acyl-CoA dehydrogenase deficiency
PharmGKBiPA24428
VEuPathDBiHostDB:ENSG00000072778

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0137, Eukaryota
GeneTreeiENSGT00940000158535
HOGENOMiCLU_018204_11_2_1
InParanoidiP49748
OMAiNAFMGLR
OrthoDBi819314at2759
PhylomeDBiP49748
TreeFamiTF105053

Enzyme and pathway databases

UniPathwayiUPA00660
BioCyciMetaCyc:ENSG00000072778-MONOMER
BRENDAi1.3.8.8, 2681
1.3.8.9, 2681
PathwayCommonsiP49748
ReactomeiR-HSA-381038, XBP1(S) activates chaperone genes
R-HSA-77305, Beta oxidation of palmitoyl-CoA to myristoyl-CoA
SIGNORiP49748

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
37, 7 hits in 1019 CRISPR screens

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

More...
ChiTaRSi
ACADVL, human
EvolutionaryTraceiP49748

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

More...
GenomeRNAii
37
PharosiP49748, Tbio

Protein Ontology

More...
PROi
PR:P49748
RNActiP49748, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000072778, Expressed in left lobe of thyroid gland and 248 other tissues
ExpressionAtlasiP49748, baseline and differential
GenevisibleiP49748, HS

Family and domain databases

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
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

MobiDB: a database of protein disorder and mobility annotations

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

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiACADV_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: P49748
Secondary accession number(s): B4DEB6
, F5H2A9, O76056, Q8WUL0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: September 29, 2021
This is version 213 of the entry and version 1 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 17
    Human chromosome 17: 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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