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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
    mouse all
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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

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    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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