Homo sapiens Protein: ACAD9 | |||||||||||||||||||||||
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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 |
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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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF02770
PF00441 PF08028 PF02771 |
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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 | ||||||||||||||||||||||