ID:ACADV_HUMAN DESCRIPTION: RecName: Full=Very long-chain specific acyl-CoA dehydrogenase, mitochondrial; Short=VLCAD; EC=1.3.8.9; Flags: Precursor; 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. CATALYTIC ACTIVITY: A very-long-chain acyl-CoA + electron-transfer flavoprotein = a very-long-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein. COFACTOR: FAD. PATHWAY: Lipid metabolism; mitochondrial fatty acid beta- oxidation. SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Mitochondrion inner membrane. DISEASE: Defects in ACADVL are the cause of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]. ACADVLD is an autosomal recessive disease which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form, with early onset, high mortality, and high incidence of cardiomyopathy; a milder childhood form, with later onset, usually with hypoketotic hypoglycemia as the main presenting feature, low mortality, and rare cardiomyopathy; and an adult form, with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria, usually triggered by exercise or fasting. MISCELLANEOUS: A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues. SIMILARITY: Belongs to the acyl-CoA dehydrogenase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADVL";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P49748
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003995 acyl-CoA dehydrogenase activity GO:0004466 long-chain-acyl-CoA dehydrogenase activity GO:0016491 oxidoreductase 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:0006629 lipid metabolic process GO:0006631 fatty acid metabolic process GO:0006635 fatty acid beta-oxidation GO:0009062 fatty acid catabolic process GO:0009409 response to cold GO:0015980 energy derivation by oxidation of organic compounds GO:0030855 epithelial cell differentiation GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0036498 IRE1-mediated unfolded protein response 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
AK293549 - Homo sapiens cDNA FLJ55801 complete cds, highly similar to Very-long-chain specific acyl-CoAdehydrogenase, mitochondrial precursor (EC 1.3.99.-). AK097243 - Homo sapiens cDNA FLJ39924 fis, clone SPLEN2021057, highly similar to ACYL-COA DEHYDROGENASE, VERY-LONG-CHAIN SPECIFIC, MITOCHONDRIAL PRECURSOR (EC 1.3.99.-). AK293537 - Homo sapiens cDNA FLJ56425 complete cds, highly similar to Very-long-chain specific acyl-CoAdehydrogenase, mitochondrial precursor (EC 1.3.99.-). AK056956 - Homo sapiens cDNA FLJ32394 fis, clone SKMUS2000078, highly similar to Very-long-chain specific acyl-CoA dehydrogenase, mitochondrial precursor (EC 1.3.99.-). AK302653 - Homo sapiens cDNA FLJ58866 complete cds, highly similar to Very-long-chain specific acyl-CoAdehydrogenase, mitochondrial precursor (EC 1.3.99.-). BC012912 - Homo sapiens acyl-Coenzyme A dehydrogenase, very long chain, mRNA (cDNA clone MGC:21196 IMAGE:4471040), complete cds. X86556 - H.sapiens HVLCAD gene. BC000399 - Homo sapiens acyl-Coenzyme A dehydrogenase, very long chain, mRNA (cDNA clone MGC:8529 IMAGE:2822593), complete cds. JD195755 - Sequence 176779 from Patent EP1572962. BC020218 - Homo sapiens acyl-Coenzyme A dehydrogenase, very long chain, mRNA (cDNA clone MGC:31908 IMAGE:5090104), complete cds. AK056083 - Homo sapiens cDNA FLJ31521 fis, clone NT2RI2000255, highly similar to Very-long-chain specific acyl-CoAdehydrogenase, mitochondrial precursor (EC 1.3.99.-). AK222518 - Homo sapiens mRNA for acyl-Coenzyme A dehydrogenase, very long chain precursor variant, clone: adSE00281. AK058109 - Homo sapiens cDNA FLJ25380 fis, clone TST02157, highly similar to ACYL-COA DEHYDROGENASE, VERY-LONG-CHAIN SPECIFIC, MITOCHONDRIAL PRECURSOR (EC 1.3.99.-). D43682 - Homo sapiens VLACD mRNA for very-long-chain acyl-CoA dehydrogenase, complete cds. AB527421 - Synthetic construct DNA, clone: pF1KB5446, Homo sapiens ACADVL gene for acyl-Coenzyme A dehydrogenase, very long chain, without stop codon, in Flexi system. KJ890613 - Synthetic construct Homo sapiens clone ccsbBroadEn_00007 ACADVL gene, encodes complete protein. JD027692 - Sequence 8716 from Patent EP1572962. JD404559 - Sequence 385583 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P49748 (Reactome details) participates in the following event(s):
R-HSA-77299 palmitoyl-CoA+FAD<=>trans-Hexadec-2-enoyl-CoA+FADH2 R-HSA-381038 XBP1(S) activates chaperone genes R-HSA-381070 IRE1alpha activates chaperones R-HSA-77305 Beta oxidation of palmitoyl-CoA to myristoyl-CoA R-HSA-381119 Unfolded Protein Response (UPR) R-HSA-77286 mitochondrial fatty acid beta-oxidation of saturated fatty acids R-HSA-392499 Metabolism of proteins R-HSA-77289 Mitochondrial Fatty Acid Beta-Oxidation R-HSA-8978868 Fatty acid metabolism R-HSA-556833 Metabolism of lipids R-HSA-1430728 Metabolism
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
