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ACADVL (acyl-CoA dehydrogenase very long chain)

Gene

Acyl-CoA dehydrogenase very long chain

ACADVL

ACAD6, LCACD, VLCAD

17p13.1

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 fat

Show/Hide all(22)

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

Show/Hide all(75)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022569	hsa-miR-124-3p	Microarray	18668037
MIRT023705	hsa-miR-1-3p	Proteomics	18668040
MIRT039914	hsa-miR-615-3p	CLASH	23622248
MIRT038930	hsa-miR-31-3p	CLASH	23622248
MIRT761647	hsa-miR-128	CLIP-seq
MIRT761648	hsa-miR-1292	CLIP-seq
MIRT761649	hsa-miR-2278	CLIP-seq
MIRT761650	hsa-miR-302a	CLIP-seq
MIRT761651	hsa-miR-302b	CLIP-seq
MIRT761652	hsa-miR-302c	CLIP-seq
MIRT761653	hsa-miR-302d	CLIP-seq
MIRT761654	hsa-miR-302e	CLIP-seq
MIRT761655	hsa-miR-3127-3p	CLIP-seq
MIRT761656	hsa-miR-372	CLIP-seq
MIRT761657	hsa-miR-373	CLIP-seq
MIRT761658	hsa-miR-3918	CLIP-seq
MIRT761659	hsa-miR-4269	CLIP-seq
MIRT761660	hsa-miR-4471	CLIP-seq
MIRT761661	hsa-miR-4477b	CLIP-seq
MIRT761662	hsa-miR-4512	CLIP-seq
MIRT761663	hsa-miR-4646-5p	CLIP-seq
MIRT761664	hsa-miR-4685-5p	CLIP-seq
MIRT761665	hsa-miR-4690-5p	CLIP-seq
MIRT761666	hsa-miR-4704-5p	CLIP-seq
MIRT761667	hsa-miR-4731-5p	CLIP-seq
MIRT761668	hsa-miR-4747-3p	CLIP-seq
MIRT761669	hsa-miR-512-3p	CLIP-seq
MIRT761670	hsa-miR-519a	CLIP-seq
MIRT761671	hsa-miR-519b-3p	CLIP-seq
MIRT761672	hsa-miR-519c-3p	CLIP-seq
MIRT761673	hsa-miR-520a-3p	CLIP-seq
MIRT761674	hsa-miR-520b	CLIP-seq
MIRT761675	hsa-miR-520c-3p	CLIP-seq
MIRT761676	hsa-miR-520d-3p	CLIP-seq
MIRT761677	hsa-miR-520e	CLIP-seq
MIRT761678	hsa-miR-526b	CLIP-seq
MIRT1924565	hsa-miR-124	CLIP-seq
MIRT761649	hsa-miR-2278	CLIP-seq
MIRT1924566	hsa-miR-2682	CLIP-seq
MIRT761650	hsa-miR-302a	CLIP-seq
MIRT761651	hsa-miR-302b	CLIP-seq
MIRT761652	hsa-miR-302c	CLIP-seq
MIRT761653	hsa-miR-302d	CLIP-seq
MIRT761654	hsa-miR-302e	CLIP-seq
MIRT1924567	hsa-miR-3126-5p	CLIP-seq
MIRT761656	hsa-miR-372	CLIP-seq
MIRT761657	hsa-miR-373	CLIP-seq
MIRT761658	hsa-miR-3918	CLIP-seq
MIRT1924568	hsa-miR-4419a	CLIP-seq
MIRT761661	hsa-miR-4477b	CLIP-seq
MIRT1924569	hsa-miR-449c	CLIP-seq
MIRT1924570	hsa-miR-4510	CLIP-seq
MIRT761662	hsa-miR-4512	CLIP-seq
MIRT761664	hsa-miR-4685-5p	CLIP-seq
MIRT761665	hsa-miR-4690-5p	CLIP-seq
MIRT1924571	hsa-miR-4747-5p	CLIP-seq
MIRT1924572	hsa-miR-506	CLIP-seq
MIRT761670	hsa-miR-519a	CLIP-seq
MIRT761671	hsa-miR-519b-3p	CLIP-seq
MIRT761672	hsa-miR-519c-3p	CLIP-seq
MIRT761673	hsa-miR-520a-3p	CLIP-seq
MIRT761674	hsa-miR-520b	CLIP-seq
MIRT761675	hsa-miR-520c-3p	CLIP-seq
MIRT761676	hsa-miR-520d-3p	CLIP-seq
MIRT761677	hsa-miR-520e	CLIP-seq
MIRT761678	hsa-miR-526b	CLIP-seq
MIRT1924573	hsa-miR-582-3p	CLIP-seq
MIRT761647	hsa-miR-128	CLIP-seq
MIRT761648	hsa-miR-1292	CLIP-seq
MIRT761660	hsa-miR-4471	CLIP-seq
MIRT761663	hsa-miR-4646-5p	CLIP-seq
MIRT761666	hsa-miR-4704-5p	CLIP-seq
MIRT761667	hsa-miR-4731-5p	CLIP-seq
MIRT761668	hsa-miR-4747-3p	CLIP-seq
MIRT761669	hsa-miR-512-3p	CLIP-seq

Show/Hide all(29)

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

MIM	HGNC	e!Ensembl
609575	92	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 producti

PDB

2UXW , 3B96 , 7S7G

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

Interactions

View interactions

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