Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ACAD8 Gene

Aliases for ACAD8 Gene

  • Acyl-CoA Dehydrogenase Family Member 8 2 3 4 5
  • Acyl-Coenzyme A Dehydrogenase Family, Member 8 2 3
  • Activator-Recruited Cofactor 42 KDa Component 3 4
  • Acyl-CoA Dehydrogenase Family, Member 8 2 3
  • ACAD-8 3 4
  • ARC42 3 4
  • EC 1.3.99.- 4
  • EC 1.3.99 63
  • IBD 4

External Ids for ACAD8 Gene

Previous GeneCards Identifiers for ACAD8 Gene

  • GC11P136620
  • GC11P135638
  • GC11P134156
  • GC11P133661
  • GC11P133628
  • GC11P134123
  • GC11P130078

Summaries for ACAD8 Gene

Entrez Gene Summary for ACAD8 Gene

  • This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]

GeneCards Summary for ACAD8 Gene

ACAD8 (Acyl-CoA Dehydrogenase Family Member 8) is a Protein Coding gene. Diseases associated with ACAD8 include isobutyryl-coa dehydrogenase deficiency and 2-methylbutyrylglycinuria. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. GO annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACADSB.

UniProtKB/Swiss-Prot for ACAD8 Gene

  • 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.

Gene Wiki entry for ACAD8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACAD8 Gene

Genomics for ACAD8 Gene

Regulatory Elements for ACAD8 Gene

Genomic Location for ACAD8 Gene

Chromosome:
11
Start:
134,253,495 bp from pter
End:
134,265,944 bp from pter
Size:
12,450 bases
Orientation:
Plus strand

Genomic View for ACAD8 Gene

Genes around ACAD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAD8 Gene

Proteins for ACAD8 Gene

  • Protein details for ACAD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKU7-ACAD8_HUMAN
    Recommended name:
    Isobutyryl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    Q9UKU7
    Secondary Accessions:
    • B7Z5W4
    • Q6ZWP6
    • Q9BUS8

    Protein attributes for ACAD8 Gene

    Size:
    415 amino acids
    Molecular mass:
    45070 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer, formed by a dimer of dimers. Subunit of the large multiprotein complex ARC/DRIP.

    Three dimensional structures from OCA and Proteopedia for ACAD8 Gene

    Alternative splice isoforms for ACAD8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACAD8 Gene

Proteomics data for ACAD8 Gene at MOPED

Selected DME Specific Peptides for ACAD8 Gene

Post-translational modifications for ACAD8 Gene

  • Ubiquitination at Lys 80
  • Modification sites at PhosphoSitePlus

Other Protein References for ACAD8 Gene

Antibody Products

Domains & Families for ACAD8 Gene

Gene Families for ACAD8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKU7

UniProtKB/Swiss-Prot:

ACAD8_HUMAN :
  • Belongs to the acyl-CoA dehydrogenase family.
Family:
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with ACAD8: view

Function for ACAD8 Gene

Molecular function for ACAD8 Gene

GENATLAS Biochemistry:
acyl-CoA dehydrogenase family,member 8
UniProtKB/Swiss-Prot CatalyticActivity:
Isobutyryl-CoA + ETF = methylacrylyl-CoA + reduced ETF.
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for ACAD8 Gene

Gene Ontology (GO) - Molecular Function for ACAD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009055 electron carrier activity IBA --
GO:0050660 flavin adenine dinucleotide binding IBA --
genes like me logo Genes that share ontologies with ACAD8: view
genes like me logo Genes that share phenotypes with ACAD8: view

Human Phenotype Ontology for ACAD8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ACAD8

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACAD8 Gene

Localization for ACAD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAD8 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACAD8 Gene COMPARTMENTS Subcellular localization image for ACAD8 gene
Compartment Confidence
mitochondrion 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for ACAD8 Gene

Pathways & Interactions for ACAD8 Gene

genes like me logo Genes that share pathways with ACAD8: view

Pathways by source for ACAD8 Gene

UniProtKB/Swiss-Prot Q9UKU7-ACAD8_HUMAN

  • Pathway: Amino-acid degradation; L-valine degradation.

Gene Ontology (GO) - Biological Process for ACAD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008152 metabolic process IEA --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA --
GO:0044281 small molecule metabolic process TAS --
GO:0055088 lipid homeostasis IBA --
genes like me logo Genes that share ontologies with ACAD8: view

No data available for SIGNOR curated interactions for ACAD8 Gene

Drugs & Compounds for ACAD8 Gene

(7) Drugs for ACAD8 Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Methacrylyl-CoA Experimental Pharma Target 0
Propionyl-CoA Experimental Pharma 0

(37) Additional Compounds for ACAD8 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-methylbutyryl-coa
  • (S)-2-methylbutyryl-CoA
  • (S)-2-methylbutyryl-Coenzyme A
  • 2-Methylbutanoyl-CoA
  • 2-Methylbutanoyl-Coenzyme A
  • 2-Methylbutyryl-CoA
6712-02-3
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
genes like me logo Genes that share compounds with ACAD8: view

Transcripts for ACAD8 Gene

Unigene Clusters for ACAD8 Gene

Acyl-CoA dehydrogenase family, member 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACAD8 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a ·
SP1: - - - - -
SP2: - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - -
SP6: - - - - -
SP7: - - - - - - - - - - - -
SP8: - - - - -
SP9: - - - - -
SP10: -
SP11: - - -
SP12:
SP13: -
SP14:

ExUns: 12b ^ 13 ^ 14a · 14b · 14c ^ 15
SP1: - - - -
SP2:
SP3: - - - -
SP4: - - - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for ACAD8 Gene

GeneLoc Exon Structure for
ACAD8
ECgene alternative splicing isoforms for
ACAD8

Expression for ACAD8 Gene

mRNA expression in normal human tissues for ACAD8 Gene

Protein differential expression in normal tissues from HIPED for ACAD8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.8) and Stomach (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACAD8 Gene



SOURCE GeneReport for Unigene cluster for ACAD8 Gene Hs.14791

mRNA Expression by UniProt/SwissProt for ACAD8 Gene

Q9UKU7-ACAD8_HUMAN
Tissue specificity: Detected at comparable levels in all tissues examined (heart, lung, brain, skeletal muscle, pancreas and placenta). Weakly expressed in liver and kidney.
genes like me logo Genes that share expression patterns with ACAD8: view

Protein tissue co-expression partners for ACAD8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ACAD8 Gene

Orthologs for ACAD8 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACAD8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACAD8 35
  • 99.36 (n)
  • 99.04 (a)
ACAD8 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACAD8 36
  • 85 (a)
OneToOne
ACAD8 35
  • 82.65 (n)
  • 84.82 (a)
dog
(Canis familiaris)
Mammalia ACAD8 35
  • 89.77 (n)
  • 92.59 (a)
ACAD8 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acad8 16
Acad8 36
  • 90 (a)
OneToOne
Acad8 35
  • 86.86 (n)
  • 90.02 (a)
oppossum
(Monodelphis domestica)
Mammalia ACAD8 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACAD8 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acad8 35
  • 84.78 (n)
  • 86.55 (a)
chicken
(Gallus gallus)
Aves ACAD8 36
  • 79 (a)
OneToOne
ACAD8 35
  • 79.16 (n)
  • 83.98 (a)
lizard
(Anolis carolinensis)
Reptilia ACAD8 36
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC64378 35
tropical clawed frog
(Silurana tropicalis)
Amphibia acad8 35
  • 72.87 (n)
  • 81.65 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13488 35
zebrafish
(Danio rerio)
Actinopterygii acad8 36
  • 77 (a)
OneToOne
acad8 35
  • 74.16 (n)
  • 81.65 (a)
zgc55874 35
worm
(Caenorhabditis elegans)
Secernentea acdh-9 35
  • 58 (n)
  • 59.09 (a)
acdh-9 36
  • 57 (a)
OneToOne
F28A10.6 37
  • 58 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14747 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7484 36
  • 64 (a)
OneToOne
Species with no ortholog for ACAD8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACAD8 Gene

ENSEMBL:
Gene Tree for ACAD8 (if available)
TreeFam:
Gene Tree for ACAD8 (if available)

Paralogs for ACAD8 Gene

Paralogs for ACAD8 Gene

genes like me logo Genes that share paralogs with ACAD8: view

Variants for ACAD8 Gene

Sequence variations from dbSNP and Humsavar for ACAD8 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_035071 Isobutyryl-CoA dehydrogenase deficiency (IBDD)
VAR_035072 Isobutyryl-CoA dehydrogenase deficiency (IBDD)
VAR_035073 Isobutyryl-CoA dehydrogenase deficiency (IBDD)
VAR_035074 Isobutyryl-CoA dehydrogenase deficiency (IBDD)
VAR_035075 Isobutyryl-CoA dehydrogenase deficiency (IBDD)

Structural Variations from Database of Genomic Variants (DGV) for ACAD8 Gene

Variant ID Type Subtype PubMed ID
nsv521581 CNV Gain 19592680
nsv832299 CNV Loss 17160897
nsv898474 CNV Loss 21882294
nsv898475 CNV Gain 21882294
esv2745324 CNV Deletion 23290073

Variation tolerance for ACAD8 Gene

Residual Variation Intolerance Score: 24.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.17; 39.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACAD8 Gene

HapMap Linkage Disequilibrium report
ACAD8
Human Gene Mutation Database (HGMD)
ACAD8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACAD8 Gene

Disorders for ACAD8 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ACAD8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
isobutyryl-coa dehydrogenase deficiency
  • acad8 deficiency
2-methylbutyrylglycinuria
  • 2-methylbutyryl-coa dehydrogenase deficiency
alpha-methylacetoacetic aciduria
  • beta-ketothiolase deficiency
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
reticulate acropigmentation of kitamura
  • rapk
- elite association - COSMIC cancer census association via MalaCards
Search ACAD8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACAD8_HUMAN
  • Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]: The 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). {ECO:0000269 PubMed:12359132, ECO:0000269 PubMed:15505379, ECO:0000269 PubMed:16857760}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACAD8

Genetic Association Database (GAD)
ACAD8
Human Genome Epidemiology (HuGE) Navigator
ACAD8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACAD8
genes like me logo Genes that share disorders with ACAD8: view

No data available for Genatlas for ACAD8 Gene

Publications for ACAD8 Gene

  1. Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family. (PMID: 10524212) Telford E.A.R. … Lench N.J. (Biochim. Biophys. Acta 1999) 2 3 4 67
  2. Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases. (PMID: 14752098) Battaile K.P. … Kim J.-J.P. (J. Biol. Chem. 2004) 3 23
  3. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. (PMID: 12359132) Nguyen T.V. … Vockley J. (Mol. Genet. Metab. 2002) 3 23
  4. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. (PMID: 11013134) Andresen B.S. … Skovby F. (Am. J. Hum. Genet. 2000) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for ACAD8 Gene

Sources for ACAD8 Gene

Back to Top

Content