InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACADVL

Summary

InnateDB Protein

IDBP-23551.6

Last Modified

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

Gene Symbol

ACADVL

Protein Name

acyl-CoA dehydrogenase, very long chain

Synonyms

ACAD6; LCACD; VLCAD;

Species

Homo sapiens

Ensembl Protein

ENSP00000349297

InnateDB Gene

IDBG-23549 (ACADVL)

Protein Structure

UniProt Annotation

Function

Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons. {ECO:0000269PubMed:18227065}.

Subcellular Localization

Mitochondrion inner membrane.

Disease Associations

Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]: An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting. {ECO:0000269PubMed:10077518, ECO:0000269PubMed:8554073, ECO:0000269PubMed:9546340}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	14 [view]
Protein-Protein	13 [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:0004466	long-chain-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:0001659	temperature homeostasis
GO:0006635	fatty acid beta-oxidation
GO:0006987	activation of signaling protein activity involved in unfolded protein response
GO:0008152	metabolic process
GO:0015980	energy derivation by oxidation of organic compounds
GO:0030855	epithelial cell differentiation
GO:0030968	endoplasmic reticulum unfolded protein response
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase
GO:0044255	cellular lipid metabolic process
GO:0044267	cellular protein metabolic process
GO:0044281	small molecule metabolic process
GO:0045717	negative regulation of fatty acid biosynthetic process
GO:0046322	negative regulation of fatty acid oxidation
GO:0055114	oxidation-reduction process
GO:0090181	regulation of cholesterol metabolic process

Cellular Component

GO:0005634	nucleus
GO:0005730	nucleolus
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005759	mitochondrial matrix
GO:0042645	mitochondrial nucleoid

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

P49748

PhosphoSite