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Protein

Isobutyryl-CoA dehydrogenase, mitochondrial

Gene

ACAD8

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

Has very high activity toward isobutyryl-CoA. Is an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Plays a role in transcriptional coactivation within the ARC complex.1 Publication

<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

FAD1 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: L-valine degradation

This protein is involved in the pathway L-valine degradation, which is part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the pathway L-valine degradation and in Amino-acid degradation.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 sitei167Substrate; via carbonyl oxygen1
Binding sitei302FAD; shared with dimeric partner1 Publication1
<p>This subsection of the ‘Function’ 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 sitei398Proton acceptor1
Binding sitei399Substrate; via amide nitrogen1
Binding sitei410Substrate1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 bindingi158 – 167FAD1 Publication10
Nucleotide bindingi191 – 193FAD1 Publication3
Nucleotide bindingi312 – 313FAD; shared with dimeric partner1 Publication2
Nucleotide bindingi371 – 375FAD; shared with dimeric partner1 Publication5
Nucleotide bindingi400 – 402FAD1 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

  • branched-chain amino acid catabolic process Source: Reactome
  • lipid metabolic process Source: ProtInc
  • valine catabolic process Source: UniProtKB-UniPathway

<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 functionActivator, Oxidoreductase
Biological processBranched-chain amino acid catabolism, Transcription, Transcription regulation
LigandFAD, Flavoprotein

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

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

More...
UniPathwayi
UPA00362

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001420

<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:
Isobutyryl-CoA dehydrogenase, mitochondrial (EC:1.3.99.-)
Alternative name(s):
Activator-recruited cofactor 42 kDa component
Short name:
ARC42
Acyl-CoA dehydrogenase family member 8
Short name:
ACAD-8
<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:ACAD8
Synonyms:ARC42, IBD
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000151498.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:87 ACAD8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604773 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UKU7

<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

Isobutyryl-CoA dehydrogenase deficiency (IBDD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe symptoms of IBDD generally appear until late in infancy or in childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia).
See also OMIM:611283
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_035071128M → I in IBDD. 1 PublicationCorresponds to variant dbSNP:rs374317179EnsemblClinVar.1
Natural variantiVAR_035072134D → Y in IBDD. 1 PublicationCorresponds to variant dbSNP:rs367857040EnsemblClinVar.1
Natural variantiVAR_035073137G → R in IBDD; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs371449613EnsemblClinVar.1
Natural variantiVAR_035074152M → T in IBDD. 1 PublicationCorresponds to variant dbSNP:rs121908418EnsemblClinVar.1
Natural variantiVAR_035075203V → I in IBDD. 1 PublicationCorresponds to variant dbSNP:rs759877257Ensembl.1
Natural variantiVAR_035076302R → Q in IBDD; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121908422EnsemblClinVar.1
Natural variantiVAR_035077320A → T in IBDD; <20% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs200620279EnsemblClinVar.1
Natural variantiVAR_035078334R → C in IBDD. 1 PublicationCorresponds to variant dbSNP:rs778823613Ensembl.1
Natural variantiVAR_035079385Q → R in IBDD. 1 PublicationCorresponds to variant dbSNP:rs367996531Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
27034

MalaCards human disease database

More...
MalaCardsi
ACAD8
MIMi611283 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000151498

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

More...
Orphaneti
79159 Isobutyryl-CoA dehydrogenase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24423

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB03147 Flavin adenine dinucleotide
DB01675 Methacrylyl-Coenzyme A

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ACAD8

Domain mapping of disease mutations (DMDM)

More...
DMDMi
26006699

<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 – 22MitochondrionSequence analysisAdd BLAST22
<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_000000052223 – 415Isobutyryl-CoA dehydrogenase, mitochondrialAdd BLAST393

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 residuei50N6-acetyllysine; alternateBy similarity1
Modified residuei50N6-succinyllysine; alternateBy similarity1
Modified residuei213N6-succinyllysineBy similarity1
Modified residuei231N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UKU7

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

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PaxDbi
Q9UKU7

PeptideAtlas

More...
PeptideAtlasi
Q9UKU7

PRoteomics IDEntifications database

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PRIDEi
Q9UKU7

ProteomicsDB human proteome resource

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ProteomicsDBi
84879

2D gel databases

University College Dublin 2-DE Proteome Database

More...
UCD-2DPAGEi
Q9UKU7

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UKU7

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

More...
PhosphoSitePlusi
Q9UKU7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

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

Detected at comparable levels in all tissues examined (heart, lung, brain, skeletal muscle, pancreas and placenta). Weakly expressed in liver and kidney.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000151498 Expressed in 209 organ(s), highest expression level in right lobe of thyroid gland

CleanEx database of gene expression profiles

More...
CleanExi
HS_ACAD8

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UKU7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UKU7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA040689
HPA043903

<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

Homotetramer, formed by a dimer of dimers. Subunit of the large multiprotein complex ARC/DRIP.3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
117965, 27 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9UKU7

Protein interaction database and analysis system

More...
IntActi
Q9UKU7, 8 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000281182

<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

1415
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9UKU7

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

More...
SMRi
Q9UKU7

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9UKU7

<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>Regioni274 – 277Substrate binding4

<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
KOG0140 Eukaryota
COG1960 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157590

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000131659

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG000224

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UKU7

KEGG Orthology (KO)

More...
KOi
K11538

Identification of Orthologs from Complete Genome Data

More...
OMAi
CSMEKFA

Database of Orthologous Groups

More...
OrthoDBi
EOG091G04BS

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UKU7

TreeFam database of animal gene trees

More...
TreeFami
TF105052

Family and domain databases

Conserved Domains Database

More...
CDDi
cd01162 IBD, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.540.10, 1 hit

Integrated resource of protein families, domains and functional sites

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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
IPR034178 IBD

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

<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 (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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UKU7-1) [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
MLWSGCRRFG ARLGCLPGGL RVLVQTGHRS LTSCIDPSMG LNEEQKEFQK
60 70 80 90 100
VAFDFAAREM APNMAEWDQK ELFPVDVMRK AAQLGFGGVY IQTDVGGSGL
110 120 130 140 150
SRLDTSVIFE ALATGCTSTT AYISIHNMCA WMIDSFGNEE QRHKFCPPLC
160 170 180 190 200
TMEKFASYCL TEPGSGSDAA SLLTSAKKQG DHYILNGSKA FISGAGESDI
210 220 230 240 250
YVVMCRTGGP GPKGISCIVV EKGTPGLSFG KKEKKVGWNS QPTRAVIFED
260 270 280 290 300
CAVPVANRIG SEGQGFLIAV RGLNGGRINI ASCSLGAAHA SVILTRDHLN
310 320 330 340 350
VRKQFGEPLA SNQYLQFTLA DMATRLVAAR LMVRNAAVAL QEERKDAVAL
360 370 380 390 400
CSMAKLFATD ECFAICNQAL QMHGGYGYLK DYAVQQYVRD SRVHQILEGS
410
NEVMRILISR SLLQE
Length:415
Mass (Da):45,070
Last modified:May 1, 2000 - 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:iCAFFE91B74E2362D
GO
Isoform 2 (identifier: Q9UKU7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-37: P → R
     38-164: Missing.

Note: No experimental confirmation available.
Show »
Length:288
Mass (Da):31,024
Checksum:i731C090A54E4BCAB
GO
Isoform 3 (identifier: Q9UKU7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: Missing.
     399-415: GSNEVMRILISRSLLQE → ELFWQGPGVQSRSFVPFGGPQIALLLPFSSGDLREG

Note: No experimental confirmation available.
Show »
Length:357
Mass (Da):38,359
Checksum:iFFFBC112FA06E2FB
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PLS3E9PLS3_HUMAN
Isobutyryl-CoA dehydrogenase, mitoc...
ACAD8
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>
E9PKP9E9PKP9_HUMAN
Isobutyryl-CoA dehydrogenase, mitoc...
ACAD8
69Annotation 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 conflicti210P → L in AAH01964 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035071128M → I in IBDD. 1 PublicationCorresponds to variant dbSNP:rs374317179EnsemblClinVar.1
Natural variantiVAR_035072134D → Y in IBDD. 1 PublicationCorresponds to variant dbSNP:rs367857040EnsemblClinVar.1
Natural variantiVAR_035073137G → R in IBDD; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs371449613EnsemblClinVar.1
Natural variantiVAR_035074152M → T in IBDD. 1 PublicationCorresponds to variant dbSNP:rs121908418EnsemblClinVar.1
Natural variantiVAR_035075203V → I in IBDD. 1 PublicationCorresponds to variant dbSNP:rs759877257Ensembl.1
Natural variantiVAR_035076302R → Q in IBDD; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121908422EnsemblClinVar.1
Natural variantiVAR_035077320A → T in IBDD; <20% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs200620279EnsemblClinVar.1
Natural variantiVAR_035078334R → C in IBDD. 1 PublicationCorresponds to variant dbSNP:rs778823613Ensembl.1
Natural variantiVAR_035079385Q → R in IBDD. 1 PublicationCorresponds to variant dbSNP:rs367996531Ensembl.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_0557791 – 77Missing in isoform 3. 1 PublicationAdd BLAST77
Alternative sequenceiVSP_05578037P → R in isoform 2. 1 Publication1
Alternative sequenceiVSP_05578138 – 164Missing in isoform 2. 1 PublicationAdd BLAST127
Alternative sequenceiVSP_055782399 – 415GSNEV…SLLQE → ELFWQGPGVQSRSFVPFGGP QIALLLPFSSGDLREG in isoform 3. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF126245 mRNA Translation: AAF12736.1
AF260689
, AF260679, AF260680, AF260681, AF260682, AF260683, AF260684, AF260685, AF260686, AF260687, AF260688 Genomic DNA Translation: AAF97922.1
AK000359 mRNA Translation: BAA91109.1
AK074640 mRNA Translation: BAC11107.1
AK299492 mRNA Translation: BAH13050.1
AP000859 Genomic DNA No translation available.
CH471065 Genomic DNA Translation: EAW67833.1
BC001964 mRNA Translation: AAH01964.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8498.1 [Q9UKU7-1]

NCBI Reference Sequences

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RefSeqi
NP_055199.1, NM_014384.2 [Q9UKU7-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.14791

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000281182; ENSP00000281182; ENSG00000151498 [Q9UKU7-1]
ENST00000374752; ENSP00000363884; ENSG00000151498 [Q9UKU7-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
27034

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:27034

UCSC genome browser

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UCSCi
uc001qhk.4 human [Q9UKU7-1]

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
AF126245 mRNA Translation: AAF12736.1
AF260689
, AF260679, AF260680, AF260681, AF260682, AF260683, AF260684, AF260685, AF260686, AF260687, AF260688 Genomic DNA Translation: AAF97922.1
AK000359 mRNA Translation: BAA91109.1
AK074640 mRNA Translation: BAC11107.1
AK299492 mRNA Translation: BAH13050.1
AP000859 Genomic DNA No translation available.
CH471065 Genomic DNA Translation: EAW67833.1
BC001964 mRNA Translation: AAH01964.1
CCDSiCCDS8498.1 [Q9UKU7-1]
RefSeqiNP_055199.1, NM_014384.2 [Q9UKU7-1]
UniGeneiHs.14791

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1RX0X-ray1.77A/B/C/D24-415[»]
ProteinModelPortaliQ9UKU7
SMRiQ9UKU7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117965, 27 interactors
CORUMiQ9UKU7
IntActiQ9UKU7, 8 interactors
STRINGi9606.ENSP00000281182

Chemistry databases

DrugBankiDB03147 Flavin adenine dinucleotide
DB01675 Methacrylyl-Coenzyme A
SwissLipidsiSLP:000001420

PTM databases

iPTMnetiQ9UKU7
PhosphoSitePlusiQ9UKU7

Polymorphism and mutation databases

BioMutaiACAD8
DMDMi26006699

2D gel databases

UCD-2DPAGEiQ9UKU7

Proteomic databases

EPDiQ9UKU7
PaxDbiQ9UKU7
PeptideAtlasiQ9UKU7
PRIDEiQ9UKU7
ProteomicsDBi84879

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
27034
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000281182; ENSP00000281182; ENSG00000151498 [Q9UKU7-1]
ENST00000374752; ENSP00000363884; ENSG00000151498 [Q9UKU7-2]
GeneIDi27034
KEGGihsa:27034
UCSCiuc001qhk.4 human [Q9UKU7-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
27034
DisGeNETi27034
EuPathDBiHostDB:ENSG00000151498.11

GeneCards: human genes, protein and diseases

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GeneCardsi
ACAD8
HGNCiHGNC:87 ACAD8
HPAiHPA040689
HPA043903
MalaCardsiACAD8
MIMi604773 gene
611283 phenotype
neXtProtiNX_Q9UKU7
OpenTargetsiENSG00000151498
Orphaneti79159 Isobutyryl-CoA dehydrogenase deficiency
PharmGKBiPA24423

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0140 Eukaryota
COG1960 LUCA
GeneTreeiENSGT00940000157590
HOGENOMiHOG000131659
HOVERGENiHBG000224
InParanoidiQ9UKU7
KOiK11538
OMAiCSMEKFA
OrthoDBiEOG091G04BS
PhylomeDBiQ9UKU7
TreeFamiTF105052

Enzyme and pathway databases

UniPathwayi
UPA00362

ReactomeiR-HSA-70895 Branched-chain amino acid catabolism

Miscellaneous databases

EvolutionaryTraceiQ9UKU7

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ACAD8

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

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GenomeRNAii
27034

Protein Ontology

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PROi
PR:Q9UKU7

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000151498 Expressed in 209 organ(s), highest expression level in right lobe of thyroid gland
CleanExiHS_ACAD8
ExpressionAtlasiQ9UKU7 baseline and differential
GenevisibleiQ9UKU7 HS

Family and domain databases

CDDicd01162 IBD, 1 hit
Gene3Di1.10.540.10, 1 hit
InterProiView protein in InterPro
IPR006089 Acyl-CoA_DH_CS
IPR006091 Acyl-CoA_Oxase/DH_cen-dom
IPR036250 AcylCo_DH-like_C
IPR009075 AcylCo_DH/oxidase_C
IPR013786 AcylCoA_DH/ox_N
IPR037069 AcylCoA_DH/ox_N_sf
IPR009100 AcylCoA_DH/oxidase_NM_dom
IPR034178 IBD
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

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiACAD8_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: Q9UKU7
Secondary accession number(s): B7Z5W4, Q6ZWP6, Q9BUS8
<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: November 28, 2002
Last sequence update: May 1, 2000
Last modified: December 5, 2018
This is version 168 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, Complete proteome, Direct protein sequencing, 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 11
    Human chromosome 11: 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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