ACADVL (acyl-CoA dehydrogenase very long chain)

Gene

• Entrez ID: 37
• Gene name: Acyl-CoA dehydrogenase very long chain
• Gene symbol: ACADVL
• Synonyms: ACAD6, LCACD, VLCAD
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113994167	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs113994168	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs149467828	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs150149784	G>C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200573371	G>A	Pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs200788251	G>A,C	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs201676770	C>T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs387906252	AGA>-	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, inframe deletion, coding sequence variant
rs387906253	A>C,G	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs398123092	A>C	Pathogenic	Splice acceptor variant
rs753108198	CT>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs761204548	GTTA>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs764488310	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs766192888	->GGCC	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs769280599	AGA>-	Uncertain-significance, likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs796051913	GAG>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs796051914	GAG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs886044671	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057516843	T>-,TT	Likely-pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057517180	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555528386	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567564499	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022569	hsa-miR-124-3p	Microarray	18668037
MIRT023705	hsa-miR-1-3p	Proteomics	18668040
MIRT038930	hsa-miR-31-3p	CLASH	23622248
MIRT039914	hsa-miR-615-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000062	Function	Fatty-acyl-CoA binding	IBA	21873635
GO:0001659	Process	Temperature homeostasis	ISS
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IMP	9461620, 9599005
GO:0004466	Function	Long-chain-acyl-CoA dehydrogenase activity	IDA	7668252
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	9461620
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006635	Process	Fatty acid beta-oxidation	TAS
GO:0009409	Process	Response to cold	IEA
GO:0015980	Process	Energy derivation by oxidation of organic compounds	TAS	7479827
GO:0017099	Function	Very-long-chain-acyl-CoA dehydrogenase activity	IBA	21873635
GO:0017099	Function	Very-long-chain-acyl-CoA dehydrogenase activity	IDA	9461620
GO:0030855	Process	Epithelial cell differentiation	IEP	21492153
GO:0031314	Component	Extrinsic component of mitochondrial inner membrane	IMP	9599005
GO:0031966	Component	Mitochondrial membrane	IDA	16020546
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	7668252
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IMP	9599005
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	ISS
GO:0036498	Process	IRE1-mediated unfolded protein response	TAS
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0042802	Function	Identical protein binding	IDA	9461620, 9599005
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	ISS
GO:0046322	Process	Negative regulation of fatty acid oxidation	ISS
GO:0050660	Function	Flavin adenine dinucleotide binding	IDA	9461620
GO:0090181	Process	Regulation of cholesterol metabolic process	ISS

Other IDs

• MIM: 609575
• HGNC: 92
• e!Ensembl: ENSG00000072778

Protein

• UniProt ID: P49748
• Protein name: Very long-chain specific acyl-CoA dehydrogenase, mitochondrial (VLCAD) (EC 1.3.8.9)
• Protein function: Very long-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (PubMed:7668252, PubMed:9461620, PubMed:18227065, PubMed:9839948, PubMed:9599005). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (PubMed:7668252, PubMed:9461620, PubMed:18227065, PubMed:9839948). Among the different mitochondrial acyl-CoA dehydrogenases, very long-chain specific acyl-CoA dehydrogenase acts specifically on acyl-CoAs with saturated 12 to 24 carbons long primary chains (PubMed:21237683, PubMed:9839948).
• PDB: 2UXW, 3B96
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02771	Acyl-CoA_dh_N	95 → 209	Acyl-CoA dehydrogenase, N-terminal domain	Domain
  PF02770	Acyl-CoA_dh_M	213 → 315	Acyl-CoA dehydrogenase, middle domain	Domain
  PF00441	Acyl-CoA_dh_1	327 → 476	Acyl-CoA dehydrogenase, C-terminal domain	Domain

• Sequence:

  MQAARMAASLGRQLLRLGGGSSRLTALLGQPRPGPARRPYAGGAAQLALDKSDSHPSDAL
  TRKKPAKAESKSFAVGMFKGQLTTDQVFPYPSVLNEEQTQFLKELVEPVSRFFEEVNDPA
  KNDALEMVEETTWQGLKELGAFGLQVPSELGGVGLCNTQYARLVEIVGMHDLGVGITLGA
  HQSIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLTEPSSGSDAASIRTSAVPSPCGKY
  YTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVKEKITAFVVERGFGGITHGPPEKKM
  GIKASNTAEVFFDGVRVPSENVLGEVGSGFKVAMHILNNGRFGMAAALAGTMRGIIAKAV
  DHATNRTQFGEKIHNFGLIQEKLARMVMLQYVTESMAYMVSANMDQGATDFQIEAAISKI
  FGSEAAWKVTDECIQIMGGMGFMKEPGVERVLRDLRIFRIFEGTNDILRLFVALQGCMDK
  GKELSGLGSALKNPFGNAGLLLGEAGKQLRRRAGLGSGLSLSGLVHPELSRSGELAVRAL
  EQFATVVEAKLIKHKKGIVNEQFLLQRLADGAIDLYAMVVVLSRASRSLSEGHPTAQHEK
  MLCDTWCIEAAARIREGMAALQSDPWQQELYRNFKSISKALVERGGVVTSNPLGF

• Sequence length: 655