Homo sapiens Protein: ACAD9
Summary
InnateDB Protein IDBP-55359.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACAD9
Protein Name acyl-CoA dehydrogenase family, member 9
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000312618
InnateDB Gene IDBG-55357 (ACAD9)
Protein Structure
UniProt Annotation
Function Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more active on palmitoyl-CoA than on stearoyl-CoA. Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0).
Subcellular Localization Mitochondrion {ECO:0000250}.
Disease Associations Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126]: A metabolic disorder with variable manifestations that include dilated cardiomyopathy, liver failure, muscle weakness, neurologic dysfunction, hypoglycemia and Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death). {ECO:0000269PubMed:17564966}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. {ECO:0000269PubMed:12359260}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 16 [view]
Protein-Protein 15 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
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:0008152 metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0030425 dendrite
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 Q9H845
PhosphoSite PhosphoSite-Q9H845
TrEMBL Q9H9W4
UniProt Splice Variant
Entrez Gene 28976
UniGene Hs.567482
RefSeq NP_054768
HUGO HGNC:21497
OMIM 611103
CCDS CCDS3053
HPRD 12412
IMGT
EMBL AC112484 AF327351 AK022568 AK024012 AK297952 BC001817 BC007970 BC013354 CH471052
GenPept AAH01817 AAH07970 AAH13354 AAL56011 BAB14104 BAB14775 BAG60267 EAW79294 EAW79295 EAW79296