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

Gene ID: 37, updated on 5-Aug-2018

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; Vega:OTTHUMG00000102157
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

Genomic context

See ACADVL in Genome Data Viewer
Location:
17p13.1
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (7217125..7225267)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7120444..7128586)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7a pseudogene 64 Neighboring gene asialoglycoprotein receptor 1 Neighboring gene discs large MAGUK scaffold protein 4 Neighboring gene microRNA 324 Neighboring gene dishevelled segment polarity protein 2 Neighboring gene PHD finger protein 23

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acyl-CoA dehydrogenase activity TAS
Traceable Author Statement
more info
 
fatty-acyl-CoA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
 
long-chain-acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
very-long-chain-acyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
 
energy derivation by oxidation of organic compounds TAS
Traceable Author Statement
more info
PubMed 
epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
fatty acid beta-oxidation TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid beta-oxidation using acyl-CoA dehydrogenase ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of fatty acid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of fatty acid oxidation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cholesterol metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
response to cold IEA
Inferred from Electronic Annotation
more info
 
temperature homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
very long-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus 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_024306509.1

NCBI Reference Sequences (RefSeq)

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
    4998..10434
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000018.3NP_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, BP387474, DA945553
    Consensus CDS
    CCDS11090.1
    UniProtKB/Swiss-Prot
    P49748
    Related
    ENSP00000349297.5, OTTHUMP00000128351, ENST00000356839.9, OTTHUMT00000220001
    Conserved Domains (1) summary
    cd01161
    Location:72481
    VLCAD; Very long chain acyl-CoA dehydrogenase
  2. NM_001033859.2NP_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, DA945553
    Consensus CDS
    CCDS42249.1
    UniProtKB/Swiss-Prot
    P49748
    Related
    ENSP00000344152.5, OTTHUMP00000260640, ENST00000350303.9, OTTHUMT00000444676
    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_001270447.1NP_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/Swiss-Prot
    P49748
    Related
    ENSP00000438689.2, OTTHUMP00000260642, ENST00000543245.6, OTTHUMT00000444679
    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_001270448.1NP_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, BI822737, BP387474, DA945553
    UniProtKB/TrEMBL
    B3KPA6
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    7217125..7225267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721516.3XP_006721579.2  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

    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_024450741.1XP_024306509.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cd01161
    Location:72478
    VLCAD; Very long chain acyl-CoA dehydrogenase
  3. XM_011523830.2XP_011522132.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X4

    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_011523829.2XP_011522131.1  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X3

    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]

RNA

  1. XR_934021.2 RNA Sequence

    Related
    ENST00000322910.9
  2. XR_934022.2 RNA Sequence

  3. XR_934023.2 RNA Sequence

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