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Aliases for ACADVL Gene

Aliases for ACADVL Gene

  • Acyl-CoA Dehydrogenase, Very Long Chain 2 3 5
  • Acyl-Coenzyme A Dehydrogenase, Very Long Chain 2 3
  • VLCAD 3 4
  • 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
  • GC17P007218

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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolism. GO annotations related to this gene include flavin adenine dinucleotide binding and 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

Enhancers for ACADVL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACADVL on UCSC Golden Path with GeneCards custom track

Promoters for ACADVL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACADVL on UCSC Golden Path with GeneCards custom track

Genomic Location for ACADVL Gene

Chromosome:
17
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

Genes around ACADVL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACADVL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 507
  • Modification sites at PhosphoSitePlus

Domains & Families for ACADVL Gene

Gene Families for ACADVL Gene

Graphical View of Domain Structure for InterPro Entry

P49748

UniProtKB/Swiss-Prot:

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

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:0000062 fatty-acyl-CoA binding IBA --
GO:0003995 acyl-CoA dehydrogenase activity IEA,TAS --
GO:0009055 electron carrier activity IBA --
genes like me logo Genes that share ontologies with ACADVL: view
genes like me logo Genes that share phenotypes with ACADVL: view

Human Phenotype Ontology for ACADVL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACADVL Gene

MGI Knock Outs for ACADVL:

Animal Model Products

miRNA for ACADVL Gene

No data available for Transcription Factor Targets 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
nucleus 5
peroxisome 3
cytosol 2

Gene Ontology (GO) - Cellular Components for ACADVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with ACADVL: view

Pathways & Interactions for ACADVL Gene

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

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:0008152 metabolic process IEA --
GO:0015980 energy derivation by oxidation of organic compounds TAS 7479827
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase ISS --
GO:0044255 cellular lipid metabolic process TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with ACADVL: view

No data available for SIGNOR curated interactions for ACADVL Gene

Drugs & Compounds for ACADVL Gene

(5) Drugs for ACADVL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Propionyl-CoA Experimental Pharma 0

(40) Additional Compounds for ACADVL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
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:

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: - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - - - - - - - - - - - - - -
SP6:
SP7: - - - - - - - - - - - -
SP8:
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SP10: - - -
SP11:
SP12:
SP13: - - - -
SP14: - - - - - - - - -
SP15: - - - -
SP16:
SP17:
SP18: - -
SP19: - - -
SP20: - -
SP21:
SP22: - - - - - - - - - - - - -
SP23: - -
SP24: - - - - - - - - -
SP25: - -
SP26:
SP27:
SP28: - - -
SP29: - -
SP30: - -
SP31: - -
SP32:
SP33:
SP34:
SP35:
SP36:
SP37:
SP38: -
SP39:
SP40:

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: - - - - - - - - - - - - - - -
SP6: - - - - -
SP7: - - - - - -
SP8:
SP9: - - -
SP10: - - - - - -
SP11: - - - - -
SP12: -
SP13: - - - - -
SP14: - - -
SP15: - - -
SP16: - - - - - - - -
SP17:
SP18:
SP19: - - - - - -
SP20: - - - - -
SP21:
SP22: - - -
SP23:
SP24: - - -
SP25: - - -
SP26: -
SP27: -
SP28:
SP29:
SP30:
SP31: - - -
SP32:
SP33: - - - -
SP34: -
SP35:
SP36:
SP37:
SP38:
SP39:
SP40:

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:
SP10:
SP11: - - - -
SP12: - - - -
SP13:
SP14:
SP15:
SP16: - -
SP17: - - - - -
SP18:
SP19:
SP20:
SP21: - - - - -
SP22:
SP23:
SP24:
SP25:
SP26: - - -
SP27: - - - -
SP28:
SP29:
SP30:
SP31:
SP32:
SP33:
SP34:
SP35:
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

Protein differential expression in normal tissues from HIPED for ACADVL Gene

This gene is overexpressed in Heart (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ACADVL: view

Protein tissue co-expression partners for ACADVL Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
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
chimpanzee
(Pan troglodytes)
Mammalia ACADVL 35
  • 97.7 (n)
  • 97.08 (a)
ACADVL 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acadvl 35
  • 84.69 (n)
  • 85.45 (a)
oppossum
(Monodelphis domestica)
Mammalia ACADVL 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACADVL 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.4866 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.5835 35
zebrafish
(Danio rerio)
Actinopterygii acadvl 35
  • 67.96 (n)
  • 73.42 (a)
wufb52d04 35
acadvl 36
  • 69 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7461 37
  • 57 (a)
CG7461 35
  • 57.39 (n)
  • 57.05 (a)
CG7461 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008769 35
  • 58.12 (n)
  • 56.03 (a)
worm
(Caenorhabditis elegans)
Secernentea C02D5.1 37
  • 29 (a)
E04F6.5 37
  • 48 (a)
acdh-12 35
  • 52.12 (n)
  • 49.07 (a)
acdh-12 36
  • 47 (a)
OneToOne
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
VAR_000330 -
VAR_000332 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
VAR_000333 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
VAR_000334 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
VAR_000335 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)

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

Variation tolerance for ACADVL Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.45; 64.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACADVL Gene

Human Gene Mutation Database (HGMD)
ACADVL

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

Disorders for ACADVL Gene

MalaCards: The human disease database

(19) MalaCards diseases for ACADVL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
vlcad deficiency
  • very long-chain acyl-coenzyme a dehydrogenase deficiency
very long-chain acyl-coenzyme a dehydrogenase deficiency
  • very long-chain acyl-coa dehydrogenase deficiency
pericardial effusion
carnitine palmitoyltransferase ii deficiency
  • cpt-ii
acyl-coa dehydrogenase, medium chain, deficiency of
  • acyl-coa dehydrogenase medium-chain deficiency
- elite association - COSMIC cancer census association via MalaCards

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.

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

Genetic Association Database (GAD)
ACADVL
Human Genome Epidemiology (HuGE) Navigator
ACADVL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACADVL
genes like me logo Genes that share disorders with ACADVL: view

Publications for ACADVL Gene

  1. 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 67
  2. Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization. (PMID: 8921384) Aoyama T. … Hashimoto T. (Genomics 1996) 2 3 23
  3. Dysregulation of very long chain acyl-CoA dehydrogenase coupled with lipid peroxidation. (PMID: 19889959) Kabuyama Y. … Homma Y. (Am. J. Physiol., Cell Physiol. 2010) 3 23
  4. Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches. (PMID: 20060901) Gobin-Limballe S. … Bastin J. (Biochim. Biophys. Acta 2010) 3 23
  5. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. (PMID: 19327992) LaforA-t P. … Vianey-Saban C. (Neuromuscul. Disord. 2009) 3 23

Products for ACADVL Gene

Sources for ACADVL Gene

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