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Aliases for ACADVL Gene

Aliases for ACADVL Gene

  • Acyl-CoA Dehydrogenase, Very Long Chain 2 3
  • VLCAD 3 4 6
  • Acyl-Coenzyme A Dehydrogenase, Very Long Chain 2 3
  • Very Long-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3
  • EC 1.3.8.9 4
  • EC 1.3.99 63
  • ACAD6 3
  • LCACD 3

External Ids for ACADVL Gene

Previous GeneCards Identifiers for ACADVL Gene

  • GC17P007521
  • GC17P007852
  • GC17P007065
  • GC17P007323
  • GC17P007294
  • GC17P007063
  • GC17P007015
  • GC17P007120

Summaries for ACADVL Gene

Entrez Gene Summary for ACADVL Gene

  • 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]

GeneCards Summary for ACADVL Gene

ACADVL (Acyl-CoA Dehydrogenase, Very Long Chain) is a Protein Coding gene. Diseases associated with ACADVL include vlcad deficiency and very long-chain acyl-coenzyme a dehydrogenase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include flavin adenine dinucleotide binding and long-chain-acyl-CoA dehydrogenase activity. An important paralog of this gene is ACAD8.

UniProtKB/Swiss-Prot for ACADVL Gene

  • Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACADVL Gene

Genomics for ACADVL Gene

Regulatory Elements for ACADVL Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ACADVL Gene

Start:
7,217,125 bp from pter
End:
7,225,273 bp from pter
Size:
8,149 bases
Orientation:
Plus strand

Genomic View for ACADVL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACADVL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACADVL Gene

Proteins for ACADVL Gene

  • Protein details for ACADVL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49748-ACADV_HUMAN
    Recommended name:
    Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    P49748
    Secondary Accessions:
    • B4DEB6
    • F5H2A9
    • O76056
    • Q8WUL0

    Protein attributes for ACADVL Gene

    Size:
    655 amino acids
    Molecular mass:
    70390 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues

    Three dimensional structures from OCA and Proteopedia for ACADVL Gene

    Alternative splice isoforms for ACADVL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACADVL Gene

Proteomics data for ACADVL Gene at MOPED

Post-translational modifications for ACADVL Gene

  • S-nitrosylation at Cys-237 in liver improves catalytic efficiency.
  • Ubiquitination at Lys507
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains for ACADVL Gene

Graphical View of Domain Structure for InterPro Entry

P49748

UniProtKB/Swiss-Prot:

ACADV_HUMAN :
  • P49748
Family:
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with ACADVL: view

No data available for Gene Families for ACADVL Gene

Function for ACADVL Gene

Molecular function for ACADVL Gene

GENATLAS Biochemistry: acyl-CoA dehydrogenase,very long chain,mitochondrial,fatty acid beta-oxidation
UniProtKB/Swiss-Prot CatalyticActivity: A very-long-chain acyl-CoA + electron-transfer flavoprotein = a very-long-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein
UniProtKB/Swiss-Prot Function: Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons.

Enzyme Numbers (IUBMB) for ACADVL Gene

Gene Ontology (GO) - Molecular Function for ACADVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003995 acyl-CoA dehydrogenase activity TAS --
GO:0004466 long-chain-acyl-CoA dehydrogenase activity TAS 8466512
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with ACADVL: view
genes like me logo Genes that share phenotypes with ACADVL: view

Animal Models for ACADVL Gene

MGI Knock Outs for ACADVL:

Animal Model Products

miRNA for ACADVL Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACADVL

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for ACADVL Gene

Localization for ACADVL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACADVL Gene

Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACADVL Gene COMPARTMENTS Subcellular localization image for ACADVL gene
Compartment Confidence
mitochondrion 5
peroxisome 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ACADVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion ISS --
GO:0005743 mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with ACADVL: view

Pathways for ACADVL Gene

genes like me logo Genes that share pathways with ACADVL: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P49748-ACADV_HUMAN

  • Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation

Gene Ontology (GO) - Biological Process for ACADVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001659 temperature homeostasis ISS --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0006987 activation of signaling protein activity involved in unfolded protein response --
GO:0008152 metabolic process --
GO:0015980 energy derivation by oxidation of organic compounds TAS 7479827
genes like me logo Genes that share ontologies with ACADVL: view

Compounds for ACADVL Gene

(33) HMDB Compounds for ACADVL Gene

Compound Synonyms Cas Number PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate Coenzyme A
10018-95-8
(2E)-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-CoA
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
38795-33-4

(10) Novoseek inferred chemical compound relationships for ACADVL Gene

Compound -log(P) Hits PubMed IDs
acyl-coa 94.6 82
s-adenosylmethionine 76.3 11
fatty acid 75.9 36
carnitine 70.7 7
palmitate 57.6 4
genes like me logo Genes that share compounds with ACADVL: view

Transcripts for ACADVL Gene

Unigene Clusters for ACADVL Gene

Acyl-CoA dehydrogenase, very long chain:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACADVL

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACADVL Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e ^ 10a ·
SP1: - - - -
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SP38: -
SP39:
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ExUns: 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b · 16c ^ 17a · 17b · 17c · 17d · 17e ^ 18a · 18b · 18c · 18d · 18e ^ 19a ·
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - -
SP5: - - - - - - - - - - - - - - -
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SP12: -
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SP20: - - - - -
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SP26: -
SP27: -
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SP31: - - -
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SP34: -
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ExUns: 19b ^ 20a · 20b ^ 21a · 21b · 21c ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b ^ 25a · 25b · 25c ^ 26a · 26b · 26c · 26d · 26e ^ 27a · 27b
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7:
SP8: - - - -
SP9:
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SP11: - - - -
SP12: - - - -
SP13:
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SP15:
SP16: - -
SP17: - - - - -
SP18:
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SP20:
SP21: - - - - -
SP22:
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SP25:
SP26: - - -
SP27: - - - -
SP28:
SP29:
SP30:
SP31:
SP32:
SP33:
SP34:
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SP36:
SP37:
SP38:
SP39:
SP40:

Relevant External Links for ACADVL Gene

GeneLoc Exon Structure for
ACADVL
ECgene alternative splicing isoforms for
ACADVL

Expression for ACADVL Gene

mRNA expression in normal human tissues for ACADVL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACADVL Gene

SOURCE GeneReport for Unigene cluster for ACADVL Gene Hs.437178

genes like me logo Genes that share expressions with ACADVL: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ACADVL Gene

Orthologs for ACADVL Gene

This gene was present in the common ancestor of animals.

Orthologs for ACADVL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACADVL 35
  • 97.7 (n)
  • 97.08 (a)
ACADVL 36
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACADVL 35
  • 89.97 (n)
  • 91.15 (a)
ACADVL 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACADVL 35
  • 89.06 (n)
  • 91.76 (a)
ACADVL 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acadvl 35
  • 84.33 (n)
  • 84.27 (a)
Acadvl 16
Acadvl 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACADVL 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACADVL 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acadvl 35
  • 84.69 (n)
  • 85.45 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5835 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.4866 35
zebrafish
(Danio rerio)
Actinopterygii acadvl 35
  • 67.96 (n)
  • 73.42 (a)
acadvl 36
  • 69 (a)
OneToOne
wufb52d04 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008769 35
  • 58.12 (n)
  • 56.03 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7461 35
  • 57.39 (n)
  • 57.05 (a)
CG7461 36
  • 55 (a)
OneToOne
CG7461 37
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea acdh-12 35
  • 52.12 (n)
  • 49.07 (a)
acdh-12 36
  • 47 (a)
OneToOne
C02D5.1 37
  • 29 (a)
E04F6.5 37
  • 48 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.593 35
Species with no ortholog for ACADVL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACADVL Gene

ENSEMBL:
Gene Tree for ACADVL (if available)
TreeFam:
Gene Tree for ACADVL (if available)

Paralogs for ACADVL Gene

Paralogs for ACADVL Gene

genes like me logo Genes that share paralogs with ACADVL: view

Variants for ACADVL Gene

Sequence variations from dbSNP and Humsavar for ACADVL Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs11548305 -- 7,222,223(+) CACCA(A/G)TTACA missense, reference
rs11870841 -- 7,222,617(+) CCCCA(G/T)TGACA intron-variant
rs35635211 -- 7,222,429(+) CCTTT(-/G)GGGAC intron-variant
rs74562836 -- 7,222,508(+) CAGGC(C/G)TCCTT intron-variant
rs112562398 -- 7,222,114(+) TCCTC(C/T)GCCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACADVL Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV Deletion 17116639
nsv457659 CNV Loss 19166990
esv2665200 CNV Deletion 23128226
dgv3053n71 CNV Loss 21882294
nsv907637 CNV Loss 21882294
nsv1962 CNV Insertion 18451855

Relevant External Links for ACADVL Gene

HapMap Linkage Disequilibrium report
ACADVL
Human Gene Mutation Database (HGMD)
ACADVL
Locus Specific Mutation Databases (LSDB)
ACADVL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACADVL Gene

Disorders for ACADVL Gene

(1) OMIM Diseases for ACADVL Gene (609575)

UniProtKB/Swiss-Prot

ACADV_HUMAN
  • Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]: An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting. {ECO:0000269 PubMed:10077518, ECO:0000269 PubMed:8554073, ECO:0000269 PubMed:9546340}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ACADVL Gene

(17) Novoseek inferred disease relationships for ACADVL Gene

Disease -log(P) Hits PubMed IDs
rhabdomyolysis 80.5 12
mcad deficiency 78.5 4
myoglobinuria, recurrent 73.6 1
cardiomyopathy 71.1 17
hypoglycemia 65.9 13

Genatlas disease for ACADVL Gene

ACADVL deficiency presenting a severe childhood form with early onset,hypertrophic cardiomyopathy(may be associated with the variant T171I of ETFA) and a high mortality;a milder childhood form with later onset, hypoketotic hypoglycemia,rare cardiomyopathy;an adult form with isolated skeletal muscle involvement,rhabdomyolysis and myoglobinuria triggered by exercise or fasting

Relevant External Links for ACADVL

GeneTests
ACADVL
GeneReviews
ACADVL
Genetic Association Database (GAD)
ACADVL
Human Genome Epidemiology (HuGE) Navigator
ACADVL
genes like me logo Genes that share disorders with ACADVL: view

Publications for ACADVL Gene

  1. Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. (PMID: 7668252) Aoyama T. … Hashimoto T. (Am. J. Hum. Genet. 1995) 3 4 23
  2. Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. (PMID: 7769092) Aoyama T. … Hashimoto T. (J. Clin. Invest. 1995) 3 4 23
  3. Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. (PMID: 8554073) Souri M. … Hashimoto T. (Am. J. Hum. Genet. 1996) 3 4 23
  4. Genomic DNA organization of human mitochondrial very-long-chain acyl- CoA dehydrogenase and mutation analysis. (PMID: 8554625) Orii K.O. … Hashimoto T. (Biochem. Biophys. Res. Commun. 1995) 3 4 23
  5. Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. (PMID: 8845838) Andresen B.S. … Gregersen N. (Hum. Mol. Genet. 1996) 3 4 23

Products for ACADVL Gene

Sources for ACADVL Gene

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