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

    Gene ID: 37, updated on 5-May-2024

    Summary

    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
    NEW
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    Genomic context

    See ACADVL in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7217125..7225266)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7118036..7126177)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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 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

    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)

    NEW Try the new Transcript table

    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_000018.4NP_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:72481
      VLCAD; Very long chain acyl-CoA dehydrogenase
    2. NM_001033859.3NP_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:50459
      VLCAD; Very long chain acyl-CoA dehydrogenase
      COG1960
      Location:80451
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    3. NM_001270447.2NP_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:95504
      VLCAD; Very long chain acyl-CoA dehydrogenase
      COG1960
      Location:125496
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    4. NM_001270448.2NP_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:1405
      VLCAD; Very long chain acyl-CoA dehydrogenase
      COG1960
      Location:26397
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_006721516.4XP_006721579.2  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

      UniProtKB/TrEMBL
      Q53HR2
      Conserved Domains (2) summary
      cd01161
      Location:72481
      VLCAD; Very long chain acyl-CoA dehydrogenase
      COG1960
      Location:102473
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    2. XM_011523830.3XP_011522132.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X3

      UniProtKB/TrEMBL
      Q53HR2
      Conserved Domains (2) summary
      cd01161
      Location:72478
      VLCAD; Very long chain acyl-CoA dehydrogenase
      COG1960
      Location:102473
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    3. XM_011523829.3XP_011522131.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      Q53HR2
      Conserved Domains (2) summary
      cd01161
      Location:72478
      VLCAD; Very long chain acyl-CoA dehydrogenase
      COG1960
      Location:102473
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    4. XM_047435932.1XP_047291888.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X5

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

    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_054315978.1XP_054171953.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

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

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

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

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

    RNA

    1. XR_008484816.1 RNA Sequence