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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
  • ACAD-8 3 4
  • ARC42 3 4
  • Isobutyryl-CoA Dehydrogenase, Mitochondrial 3
  • Acyl-CoA Dehydrogenase Family, Member 8 2
  • EC 1.3.99.- 4
  • EC 1.3.99 61
  • 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 ACADS.

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

Enhancers for ACAD8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F134228 1 Ensembl ENCODE 25.9 -23.0 -22995 4.2 CTCF PKNOX1 RAD21 RELA SCRT2 CREM MAZ MTA2 CBFB REST ACAD8 THYN1 GLB1L3 ENSG00000255348 LOC100533644 JAM3 NCAPD3 PIR33942
GH11F134252 1.1 ENCODE 20.1 -0.1 -97 2.1 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 SP3 ACAD8 THYN1 GLB1L3 PIR51401
GH11F134254 0.4 FANTOM5 19.9 +1.2 1167 0.2 CBX8 POLR2A SMAD5 ACAD8 GLB1L2 THYN1 NCAPD3 GLB1L3 GC11P134258
GH11F134266 0.9 Ensembl ENCODE 19 +13.8 13782 2.2 MAX FOS WT1 ZNF18 ACAD8 NCAPD3 VPS26B GC11P134265 GLB1L3
GH11F134271 1.1 Ensembl ENCODE 18.3 +19.4 19394 2.5 ATF1 MLX ARID4B DMAP1 ZSCAN9 RAD21 YY1 ZNF121 SCRT2 CREM ACAD8 GLB1L3 GC11P134265
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ACAD8 on UCSC Golden Path with GeneCards custom track

Promoters for ACAD8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000571846 105 2801 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 SP3 SP5

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

Selected DME Specific Peptides for ACAD8 Gene

Post-translational modifications for ACAD8 Gene

  • Ubiquitination at Lys 80
  • Modification sites at PhosphoSitePlus

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:0000062 fatty-acyl-CoA binding IBA --
GO:0003995 acyl-CoA dehydrogenase activity EXP 12359132
GO:0009055 electron carrier activity IBA --
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for ACAD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IBA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ACAD8: view

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.

Interacting Proteins for ACAD8 Gene

Gene Ontology (GO) - Biological Process for ACAD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006574 valine catabolic process IEA --
GO:0006629 lipid metabolic process TAS 10524212
GO:0008152 metabolic process IEA --
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: DrugBank, HMDB, and Novoseek

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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, MaxQB, and MOPED for ACAD8 Gene



Protein tissue co-expression partners for ACAD8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACAD8 Gene:

ACAD8

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

Primer 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 34 35
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia ACAD8 34 35
  • 89.77 (n)
mouse
(Mus musculus)
Mammalia Acad8 34 16 35
  • 86.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACAD8 35
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acad8 34
  • 84.78 (n)
cow
(Bos Taurus)
Mammalia ACAD8 34 35
  • 82.65 (n)
oppossum
(Monodelphis domestica)
Mammalia ACAD8 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACAD8 34 35
  • 79.16 (n)
lizard
(Anolis carolinensis)
Reptilia ACAD8 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acad8 34
  • 72.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64378 34
zebrafish
(Danio rerio)
Actinopterygii acad8 34 35
  • 74.16 (n)
zgc55874 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13488 34
worm
(Caenorhabditis elegans)
Secernentea F28A10.6 36
  • 58 (a)
acdh-9 34 35
  • 58 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7484 35
  • 64 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14747 34
Species where no ortholog for ACAD8 was found in the sources mined by GeneCards:
  • 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
rs121908418 Pathogenic, Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] 134,258,589(+) TACCA(C/T)GGAGA reference, missense
rs121908422 Pathogenic, Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] 134,261,338(+) TGTCC(A/G)GAAGC reference, missense, utr-variant-3-prime
rs200620279 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] 134,261,756(+) CACTG(A/G)CTGAT reference, missense, utr-variant-3-prime
rs367857040 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283], Uncertain significance 134,258,534(+) TGATT(G/T)ATAGC reference, missense
rs367996531 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] 134,262,581(+) TGTTC(A/G)GCAGT reference, missense, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2745324 CNV deletion 23290073
esv3892114 CNV gain 25118596
nsv1037294 CNV loss 25217958
nsv521581 CNV gain 19592680
nsv556598 CNV loss 21841781
nsv832299 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
ACAD8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACAD8

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

Disorders for ACAD8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
isobutyryl-coa dehydrogenase deficiency
  • irritable bowel syndrome
2-methylbutyrylglycinuria
  • 2-@methylbutyryl-coa dehydrogenase deficiency
alpha-methylacetoacetic aciduria
  • beta-ketothiolase deficiency
3-methylcrotonyl-coa carboxylase deficiency
  • 3-methylcrotonylglycinuria
propionicacidemia
  • propionic acidemia
- 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. 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 4 22 64
  2. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. (PMID: 12359132) Nguyen T.V. … Vockley J. (Mol. Genet. Metab. 2002) 3 4 22 64
  3. 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 4 22 64
  4. 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 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for ACAD8 Gene

Sources for ACAD8 Gene

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