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ACADVL acyl-CoA dehydrogenase very long chain [ Homo sapiens (human) ]

Gene ID: 37, updated on 10-Dec-2024

Summary

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Official Symbol
ACADVLprovided by HGNC
Official Full Name
acyl-CoA dehydrogenase very long chainprovided by HGNC
Primary source
HGNC:HGNC:92
See related
Ensembl:ENSG00000072778 MIM:609575; AllianceGenome:HGNC:92
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACAD6; LCACD; VLCAD
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]
Expression
Ubiquitous expression in adrenal (RPKM 228.7), duodenum (RPKM 185.5) and 25 other tissues See more
Orthologs
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Genomic context

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See ACADVL in Genome Data Viewer
Location:
17p13.1
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7217125..7225266)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7118036..7126177)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7120444..7128585)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903910 Neighboring gene Sharpr-MPRA regulatory region 10830 Neighboring gene uncharacterized LOC124903911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7077401-7078117 Neighboring gene asialoglycoprotein receptor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7089971-7090140 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:7099412-7100611 Neighboring gene discs large MAGUK scaffold protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7114348-7114862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7114863-7115377 Neighboring gene Sharpr-MPRA regulatory region 12633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7118298-7119276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7123549-7124156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7128275-7128774 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7132793-7133992 Neighboring gene microRNA 324 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11604 Neighboring gene dishevelled segment polarity protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8090 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7142377-7143026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11605 Neighboring gene PHD finger protein 23 Neighboring gene GABA type A receptor-associated protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. [Correlation between severe preeclampsia and abnormal expression of long-chain fatty acid oxidative enzyme]. Sun XL, et al. Zhonghua Yi Xue Za Zhi, 2011 Aug 9. PMID 22093928
  2. Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties. Zia A, et al. J Inherit Metab Dis, 2007 Oct. PMID 17514507
  3. Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. Gobin-Limballe S, et al. Am J Hum Genet, 2007 Dec. PMID 17999356, Free PMC Article
  4. Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase. McAndrew RP, et al. J Biol Chem, 2008 Apr 4. PMID 18227065, Free PMC Article
  5. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Laforêt P, et al. Neuromuscul Disord, 2009 May. PMID 19327992

See all (133) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
    Title: Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
  2. Hypermethylation of ACADVL is involved in the high-intensity interval training-associated reduction of cardiac fibrosis in heart failure patients.
    Title: Hypermethylation of ACADVL is involved in the high-intensity interval training-associated reduction of cardiac fibrosis in heart failure patients.
  3. Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor delta Agonist Improves Cellular Bioenergetics.
    Title: Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.
  4. Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency.
    Title: Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency.
  5. Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.
    Title: Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.
  6. VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis.
    Title: VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis.
  7. Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
    Title: Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
  8. Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.
    Title: Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.
  9. Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
    Title: Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
  10. One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
    Title: One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acyl-CoA dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables fatty-acyl-CoA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables flavin adenine dinucleotide binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables long-chain fatty acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables very-long-chain fatty acyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables very-long-chain fatty acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in energy derivation by oxidation of organic compounds TAS
Traceable Author Statement
more info
 PubMed 
involved_in epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of fatty acid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of fatty acid oxidation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cholesterol metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to cold IEA
Inferred from Electronic Annotation
more info
  
involved_in temperature homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
very long-chain specific acyl-CoA dehydrogenase, mitochondrial
Names
acyl-Coenzyme A dehydrogenase, very long chain
NP_000009.1
NP_001029031.1
NP_001257376.1
NP_001257377.1
XP_006721579.2
XP_011522131.1
XP_011522132.1
XP_047291887.1
XP_047291888.1
XP_054171953.1
XP_054171954.1
XP_054171955.1
XP_054171956.1
XP_054171957.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007975.1 RefSeqGene

    Range
    5105..10433
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000018.4 → NP_000009.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_000009.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
    Source sequence(s)
    BC000399
    Consensus CDS
    CCDS11090.1
    UniProtKB/Swiss-Prot
    B4DEB6, F5H2A9, O76056, P49748, Q8WUL0
    UniProtKB/TrEMBL
    Q53HR2
    Related
    ENSP00000349297.5, ENST00000356839.10
    Conserved Domains (1) summary
    cd01161
    Location:72 → 481
    VLCAD; Very long chain acyl-CoA dehydrogenase

  2. NM_001033859.3 → NP_001029031.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001029031.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting (isoform 2) is shorter, compared to isoform 1.
    Source sequence(s)
    BC020218, BP387474
    Consensus CDS
    CCDS42249.1
    UniProtKB/TrEMBL
    Q53HR2
    Related
    ENSP00000344152.5, ENST00000350303.9
    Conserved Domains (2) summary
    cd01161
    Location:50 → 459
    VLCAD; Very long chain acyl-CoA dehydrogenase
    COG1960
    Location:80 → 451
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

  3. NM_001270447.2 → NP_001257376.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC120057, AK293549, BC000399, BP387474
    Consensus CDS
    CCDS58509.1
    UniProtKB/TrEMBL
    Q53HR2
    Related
    ENSP00000438689.2, ENST00000543245.6
    Conserved Domains (2) summary
    cd01161
    Location:95 → 504
    VLCAD; Very long chain acyl-CoA dehydrogenase
    COG1960
    Location:125 → 496
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

  4. NM_001270448.2 → NP_001257377.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 4

    See identical proteins and their annotated locations for NP_001257377.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an additional segment in the 5' exon, compared to variant 1. The 5'-most supported initiation codon, as used in variant 1, is associated with a weak Kozak sequence and a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG, and result in an isoform (4), which is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AK056083, BP387474
    UniProtKB/TrEMBL
    B3KPA6, Q53HR2
    Conserved Domains (2) summary
    cd01161
    Location:1 → 405
    VLCAD; Very long chain acyl-CoA dehydrogenase
    COG1960
    Location:26 → 397
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    7217125..7225266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721516.4 → XP_006721579.2  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

    UniProtKB/TrEMBL
    Q53HR2
    Conserved Domains (2) summary
    cd01161
    Location:72 → 481
    VLCAD; Very long chain acyl-CoA dehydrogenase
    COG1960
    Location:102 → 473
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

  2. XM_011523830.3 → XP_011522132.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X3

    UniProtKB/TrEMBL
    Q53HR2
    Conserved Domains (2) summary
    cd01161
    Location:72 → 478
    VLCAD; Very long chain acyl-CoA dehydrogenase
    COG1960
    Location:102 → 473
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

  3. XM_011523829.3 → XP_011522131.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    Q53HR2
    Conserved Domains (2) summary
    cd01161
    Location:72 → 478
    VLCAD; Very long chain acyl-CoA dehydrogenase
    COG1960
    Location:102 → 473
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

  4. XM_047435932.1 → XP_047291888.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X5

  5. XM_047435931.1 → XP_047291887.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X4

    UniProtKB/TrEMBL
    Q53HR2

RNA

  1. XR_007065296.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    7118036..7126177
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315978.1 → XP_054171953.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

    UniProtKB/TrEMBL
    Q53HR2

  2. XM_054315980.1 → XP_054171955.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X3

    UniProtKB/TrEMBL
    Q53HR2

  3. XM_054315979.1 → XP_054171954.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    Q53HR2

  4. XM_054315982.1 → XP_054171957.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X5

  5. XM_054315981.1 → XP_054171956.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X4

    UniProtKB/TrEMBL
    Q53HR2

RNA

  1. XR_008484816.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P49748.1 GenPept UniProtKB/Swiss-Prot:P49748

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