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ACADVL (acyl-CoA dehydrogenase, very long chain)

Identity

Other namesACAD6
LCACD
VLCAD
HGNC (Hugo) ACADVL
LocusID (NCBI) 37
Location 17p13.1
Location_base_pair Starts at 7123150 and ends at 7128586 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ACADVL   92
Cards
Entrez_Gene (NCBI)ACADVL  37  acyl-CoA dehydrogenase, very long chain
GeneCards (Weizmann)ACADVL
Ensembl (Hinxton)ENSG00000072778 [Gene_View]  chr17:7123150-7128586 [Contig_View]  ACADVL [Vega]
ICGC DataPortalENSG00000072778
cBioPortalACADVL
AceView (NCBI)ACADVL
Genatlas (Paris)ACADVL
WikiGenes37
SOURCE (Princeton)NM_000018 NM_001033859 NM_001270447 NM_001270448
Genomic and cartography
GoldenPath (UCSC)ACADVL  -  17p13.1   chr17:7123150-7128586 +  17p13.1   [Description]    (hg19-Feb_2009)
EnsemblACADVL - 17p13.1 [CytoView]
Mapping of homologs : NCBIACADVL [Mapview]
OMIM201475   609575   
Gene and transcription
Genbank (Entrez)AA643658 AK056083 AK056956 AK058109 AK097243
RefSeq transcript (Entrez)NM_000018 NM_001033859 NM_001270447 NM_001270448
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NG_007975 NT_010718 NW_001838403 NW_004929405
Consensus coding sequences : CCDS (NCBI)ACADVL
Cluster EST : UnigeneHs.437178 [ NCBI ]
CGAP (NCI)Hs.437178
Alternative Splicing : Fast-db (Paris)GSHG0012182
Alternative Splicing GalleryENSG00000072778
Gene ExpressionACADVL [ NCBI-GEO ]     ACADVL [ SEEK ]   ACADVL [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49748 (Uniprot)
NextProtP49748  [Medical]
With graphics : InterProP49748
Splice isoforms : SwissVarP49748 (Swissvar)
Catalytic activity : Enzyme1.3.8.9 [ Enzyme-Expasy ]   1.3.8.91.3.8.9 [ IntEnz-EBI ]   1.3.8.9 [ BRENDA ]   1.3.8.9 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)ACYL_COA_DH_1 (PS00072)    ACYL_COA_DH_2 (PS00073)   
Domains : Interpro (EBI)Acyl-CoA_DH_CS [organisation]   Acyl-CoA_Oxase/DH_cen-dom [organisation]   AcylCo_DH/oxidase_C [organisation]   AcylCoA_DH/ox_N [organisation]   AcylCoA_DH/oxidase_NM_dom [organisation]  
Related proteins : CluSTrP49748
Domain families : Pfam (Sanger)Acyl-CoA_dh_1 (PF00441)    Acyl-CoA_dh_M (PF02770)    Acyl-CoA_dh_N (PF02771)   
Domain families : Pfam (NCBI)pfam00441    pfam02770    pfam02771   
DMDM Disease mutations37
Blocks (Seattle)P49748
PDB (SRS)2UXW    3B96   
PDB (PDBSum)2UXW    3B96   
PDB (IMB)2UXW    3B96   
PDB (RSDB)2UXW    3B96   
Human Protein AtlasENSG00000072778 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP49748
HPRD01940
IPIIPI01013108   IPI00178744   IPI00937735   IPI00793599   IPI00028031   
Protein Interaction databases
DIP (DOE-UCLA)P49748
IntAct (EBI)P49748
FunCoupENSG00000072778
BioGRIDACADVL
InParanoidP49748
Interologous Interaction database P49748
IntegromeDBACADVL
STRING (EMBL)ACADVL
Ontologies - Pathways
Ontology : AmiGOtemperature homeostasis  acyl-CoA dehydrogenase activity  long-chain-acyl-CoA dehydrogenase activity  nucleus  nucleolus  cytoplasm  mitochondrion  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  fatty acid beta-oxidation  activation of signaling protein activity involved in unfolded protein response  energy derivation by oxidation of organic compounds  epithelial cell differentiation  endoplasmic reticulum unfolded protein response  fatty acid beta-oxidation using acyl-CoA dehydrogenase  mitochondrial nucleoid  cellular lipid metabolic process  cellular protein metabolic process  small molecule metabolic process  negative regulation of fatty acid biosynthetic process  negative regulation of fatty acid oxidation  flavin adenine dinucleotide binding  regulation of cholesterol metabolic process  
Ontology : EGO-EBItemperature homeostasis  acyl-CoA dehydrogenase activity  long-chain-acyl-CoA dehydrogenase activity  nucleus  nucleolus  cytoplasm  mitochondrion  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  fatty acid beta-oxidation  activation of signaling protein activity involved in unfolded protein response  energy derivation by oxidation of organic compounds  epithelial cell differentiation  endoplasmic reticulum unfolded protein response  fatty acid beta-oxidation using acyl-CoA dehydrogenase  mitochondrial nucleoid  cellular lipid metabolic process  cellular protein metabolic process  small molecule metabolic process  negative regulation of fatty acid biosynthetic process  negative regulation of fatty acid oxidation  flavin adenine dinucleotide binding  regulation of cholesterol metabolic process  
Pathways : KEGGFatty acid degradation   
Protein Interaction DatabaseACADVL
Wikipedia pathwaysACADVL
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ACADVL
snp3D : Map Gene to Disease37
SNP (GeneSNP Utah)ACADVL
SNP : HGBaseACADVL
Genetic variants : HAPMAPACADVL
Exome VariantACADVL
1000_GenomesACADVL 
ICGC programENSG00000072778 
Somatic Mutations in Cancer : COSMICACADVL 
CONAN: Copy Number AnalysisACADVL 
Mutations and Diseases : HGMDACADVL
Mutations and Diseases : intOGenACADVL
Genomic VariantsACADVL  ACADVL [DGVbeta]
dbVarACADVL
ClinVarACADVL
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM201475    609575   
MedgenACADVL
GENETestsACADVL
Disease Genetic AssociationACADVL
Huge Navigator ACADVL [HugePedia]  ACADVL [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneACADVL
Homology/Alignments : Family Browser (UCSC)ACADVL
Phylogenetic Trees/Animal Genes : TreeFamACADVL
Chemical/Protein Interactions : CTD37
Chemical/Pharm GKB GenePA24428
Clinical trialACADVL
Cancer Resource (Charite)ENSG00000072778
Other databases
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
CoreMineACADVL
iHOPACADVL
OncoSearchACADVL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:36:33 CEST 2014

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