InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACAD8

Summary

InnateDB Protein

IDBP-76519.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ACAD8

Protein Name

acyl-CoA dehydrogenase family, member 8

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000281182

InnateDB Gene

IDBG-76517 (ACAD8)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:12359132}.

Subcellular Localization

Mitochondrion {ECO:0000269PubMed:11013134}.

Disease Associations

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:0000269PubMed:12359132, ECO:0000269PubMed:15505379, ECO:0000269PubMed:16857760}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	3 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003995	acyl-CoA dehydrogenase activity
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors
GO:0050660	flavin adenine dinucleotide binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006574	valine catabolic process
GO:0006629	lipid metabolic process
GO:0008152	metabolic process
GO:0009083	branched-chain amino acid catabolic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix

Protein Structure and Domains

PDB ID

InterPro

IPR006091 Acyl-CoA oxidase/dehydrogenase, central domain
IPR009075 Acyl-CoA dehydrogenase/oxidase C-terminal
IPR009100 Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain
IPR013107 Acyl-CoA dehydrogenase, C-terminal domain
IPR013786 Acyl-CoA dehydrogenase/oxidase, N-terminal

PFAM

PF02770
PF00441
PF08028
PF02771

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UKU7

PhosphoSite