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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACADVL Gene

protein-coding   GIFtS: 70
GCID: GC17P007120

Acyl-CoA Dehydrogenase, Very Long Chain

(Previous names: acyl-Coenzyme A dehydrogenase, very long chain)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Acyl-CoA Dehydrogenase, Very Long Chain1 2     LCACD2
VLCAD2 3 5     Very Long-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial2
Acyl-Coenzyme A Dehydrogenase, Very Long Chain1 2     EC 1.3.8.93
ACAD62     EC 1.3.998

External Ids:    HGNC: 921   Entrez Gene: 372   Ensembl: ENSG000000727787   OMIM: 6095755   UniProtKB: P497483   

Export aliases for ACADVL gene to outside databases

Previous GC identifers: GC17P007521 GC17P007852 GC17P007065 GC17P007323 GC17P007294 GC17P007063 GC17P007015


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 very long-chain acyl-coenzyme a dehydrogenase deficiency, and pericardial effusion, and among its related super-pathways are Metabolic pathways and Fatty Acid Beta Oxidation. GO annotations related to this gene include long-chain-acyl-CoA dehydrogenase activity and flavin adenine dinucleotide binding. An important paralog of this gene is ACADL.

UniProtKB/Swiss-Prot: ACADV_HUMAN, P49748
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACADVL gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACADVL promoter sequence
   Search SABiosciences Chromatin IP Primers for ACADVL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACADVL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

ACADVL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACADVL gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P007120:  view genomic region     (about GC identifiers)

Start:
7,120,444 bp from pter      End:
7,128,592 bp from pter
Size:
8,149 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ACADV_HUMAN, P49748 (See protein sequence)
Recommended Name: Very long-chain specific acyl-CoA dehydrogenase, mitochondrial precursor  
Size: 655 amino acids; 70390 Da
Cofactor: FAD
Subunit: Homodimer
Subcellular location: Mitochondrion inner membrane
Miscellaneous: A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present
in mammalian tissues
2 PDB 3D structures from and Proteopedia for ACADVL:
2UXW (3D)        3B96 (3D)    
Secondary accessions: B4DEB6 F5H2A9 O76056 Q8WUL0
Alternative splicing: 3 isoforms:  P49748-1   P49748-2   P49748-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACADVL: NX_P49748

Explore proteomics data for ACADVL at MOPED 

Post-translational modifications:

  • UniProtKB: S-nitrosylation at Cys-237 in liver improves catalytic efficiency (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P49748

  • 4/19 DME Specific Peptides for ACADVL (P49748) (see all 19)
     SANMDQG  RFFEEVND  IFTVFAKT  ENVLGEVG 

    ACADVL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACADVL Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_000009.1  NP_001029031.1  NP_001257376.1  NP_001257377.1  

    ENSEMBL proteins: 
     ENSP00000438689   ENSP00000349297   ENSP00000325395   ENSP00000467920   ENSP00000344152  
     ENSP00000465353   ENSP00000463246   ENSP00000462366   ENSP00000462611   ENSP00000442082  
     ENSP00000464254   ENSP00000466487  
    Reactome Protein details: P49748
    Human Recombinant Protein Products for ACADVL: 
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    Cloud-Clone Corp. Proteins for ACADVL 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--
    GO:0042645mitochondrial nucleoid IDA18063578

    ACADVL for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR006090 Acyl-CoA_Oxase/DH_1
     IPR009100 AcylCoA_DH/oxidase
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR006089 Acyl-CoA_DH_CS

    Graphical View of Domain Structure for InterPro Entry P49748

    ProtoNet protein and cluster: P49748

    1 Blocks protein domain: IPB006089 Acyl-CoA dehydrogenase

    UniProtKB/Swiss-Prot: ACADV_HUMAN, P49748
    Similarity: Belongs to the acyl-CoA dehydrogenase family


    ACADVL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACADV_HUMAN, P49748
    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
    Catalytic activity: A very-long-chain acyl-CoA + electron-transfer flavoprotein = a very-long-chain
    trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein

         Genatlas biochemistry entry for ACADVL:
    acyl-CoA dehydrogenase,very long chain,mitochondrial,fatty acid beta-oxidation

         Enzyme Numbers (IUBMB): EC 1.3.8.91 EC 1.3.992

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003995acyl-CoA dehydrogenase activity TAS--
    GO:0004466long-chain-acyl-CoA dehydrogenase activity TAS8466512
    GO:0016491oxidoreductase activity ----
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
    GO:0050660flavin adenine dinucleotide binding IEA--
         
    ACADVL for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ACADVL:
     Upregulation of Wnt/beta-caten 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Acadvl):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  growth/size 
     homeostasis/metabolism  liver/biliary system  mortality/aging  muscle  tumorigenesis 

    ACADVL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ACADVL: Acadvltm1Vje Acadvltm1Uab

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACADVL 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACADVL 
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    SwitchGear 3'UTR luciferase reporter plasmidACADVL 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACADVL About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Fatty Acid Beta Oxidation
    Fatty Acid Beta Oxidation0.35
    Fatty acid degradation0.32
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    3Activation of Chaperone Genes by XBP1(S)
    Activation of Chaperones by IRE1alpha0.94
    Unfolded Protein Response0.76
    Activation of Chaperone Genes by XBP1(S)0.94
    4Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
    mitochondrial fatty acid beta-oxidation of saturated fatty acids0.62
    Beta oxidation of palmitoyl-CoA to myristoyl-CoA0.50
    Mitochondrial Fatty Acid Beta-Oxidation0.53
    5Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Fatty acid, triacylglycerol, and ketone body metabolism0.52

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for ACADVL
        Fatty Acid Beta Oxidation
    FOXA2 and FOXA3 transcription factor networks
    Mitochondrial LC-Fatty Acid Beta-Oxidation


    5/10        Reactome Pathways for ACADVL (see all 10)
        mitochondrial fatty acid beta-oxidation of saturated fatty acids
    Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Mitochondrial Fatty Acid Beta-Oxidation
    Activation of Chaperone Genes by XBP1(S)


    2         Kegg Pathways  (Kegg details for ACADVL):
        Fatty acid degradation
    Metabolic pathways

    UniProtKB/Swiss-Prot: ACADV_HUMAN, P49748
    Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation


    ACADVL for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACADVL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/273 Interacting proteins for ACADVL (P497482, 3 ENSP000003253954) via UniProtKB, MINT, STRING, and/or I2D (see all 273)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    CPT2P237862, ENSP000003605414MINT-8079030 STRING: ENSP00000360541
    SOCS3O145433, ENSP000003303414I2D: score=2 STRING: ENSP00000330341
    CDH1P128303, ENSP000002617694I2D: score=2 STRING: ENSP00000261769
    HADHAP409392, ENSP000003700234MINT-8079030 STRING: ENSP00000370023
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001659temperature homeostasis ISS--
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0008152metabolic process ----
    GO:0015980energy derivation by oxidation of organic compounds TAS7479827

    ACADVL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACADVL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ACADVL (ACADV)

    10/33 HMDB Compounds for ACADVL (see all 33)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--

    10 Novoseek inferred chemical compound relationships for ACADVL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 94.6 106 8845838 (3), 11580910 (2), 18227065 (2), 17374501 (2) (see all 76)
    s-adenosylmethionine 76.3 11 15025677 (2), 11433098 (2), 8650121 (1), 10700700 (1) (see all 9)
    fatty acid 75.9 41 11433098 (3), 7586519 (2), 8650121 (1), 9498103 (1) (see all 33)
    carnitine 70.7 7 9700596 (2), 19399638 (1), 15025677 (1), 10407852 (1) (see all 6)
    palmitate 57.6 6 7668252 (1), 16115821 (1), 17825594 (1), 7769092 (1)
    acetyl-l-carnitine 42.5 1 11509020 (1)
    lipid 9.93 2 17904533 (1), 10407852 (1)
    glucose 3.85 1 16435213 (1)
    creatinine 2.25 2 11131350 (1), 15024832 (1)
    arachidonic acid 0 1 10832093 (1)

    Search CenterWatch for drugs/clinical trials and news about ACADVL / ACADV

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for ACADVL gene (4 alternative transcripts): 
    NM_000018.3  NM_001033859.2  NM_001270447.1  NM_001270448.1  

    Unigene Cluster for ACADVL:

    Acyl-CoA dehydrogenase, very long chain
    Hs.437178  [show with all ESTs]
    Unigene Representative Sequence: NM_001270448
    18/39 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 39):
    ENST00000543245(uc010vtp.2) ENST00000356839(uc010vtq.1 uc002gev.3 uc002gew.3)
    ENST00000322910(uc002gex.3) ENST00000582356 ENST00000583312 ENST00000350303
    ENST00000578269 ENST00000579286 ENST00000580263 ENST00000582056 ENST00000577857
    ENST00000584103 ENST00000577191 ENST00000578421 ENST00000581562 ENST00000579886
    ENST00000577433 ENST00000582166
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    Additional mRNA sequence: 

    AK056083.1 AK222518.1 AK293549.1 BC000399.2 BC012912.1 BC020218.1 D43682.1 X86556.1 

    24/80 DOTS entries (see all 80):

    DT.92459234  DT.454055  DT.92459237  DT.100858265  DT.100695589  DT.100766018  DT.100695612  DT.100695591 
    DT.101988039  DT.92459240  DT.100695614  DT.100695599  DT.100695607  DT.100695625  DT.102838636  DT.100039205 
    DT.95116579  DT.100640961  DT.120903015  DT.92459244  DT.120903193  DT.100695590  DT.100039213  DT.100695617 

    24/672 AceView cDNA sequences (see all 672):

    BE256766 BM771029 CB153919 BG481167 T34261 AU141256 AA369437 BM693583 
    AL558025 BU857798 AA301385 BC012912 BP341597 BX335547 BE549343 AI270679 
    CR615522 CR594516 CA413239 CA391441 C05119 CR625925 CB216283 BM909869 

    GeneLoc Exon Structure

    5/40 Alternative Splicing Database (ASD) splice patterns (SP) for ACADVL (see all 40)    About this scheme

    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:                                                              -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   

    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:  -     -     -     -     -     -     -                 -     -     -                                               -     -     -     -                 -   

    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:                                      -     -                                         -                 -                           


    ECgene alternative splicing isoforms for ACADVL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACADVL expression in normal human tissues (normalized intensities)      ACADVL embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCGCCCTGC
    ACADVL Expression
    About this image


    ACADVL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             brain/midbrain   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/ventricle   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Kidney (Urinary System)
             Metanephros

    See ACADVL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACADVL

    SOURCE GeneReport for Unigene cluster: Hs.437178
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACADVL: 
              Fatty Acid Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ACADVL gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acadvl1 , 5 acyl-Coenzyme A dehydrogenase, very long chain1, 5 84.35(n)1
    84.4(a)1
      11 (42.96 cM)5
    113701  NM_017366.21  NP_059062.11 
     700101835 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.58352 Xenopus laevis transcribed sequence with weak similarity more 74.91(n)    BQ732139.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb52d042 Danio rerio cDNA clone MGC64067 IMAGE6794327, complete more 76.71(n)    BC054606.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG74611 , 3 very long-chain acyl-CoA dehydrogenase3
    CG74611
    57(a)3
    57.4(n)1
    57.63(a)1
      372171  NM_137565.21  NP_611409.21 
    worm
    (Caenorhabditis elegans)
    Secernentea E04F6.53
    acdh-121
    Isovaleryl-CoA dehydrogenase3
    Protein ACDH-121
    48(a)
    (best of 2)3
    52.07(n)1
    49.31(a)1
      II(7192522-7194696)3
    1741801  NM_001026891.31  NP_001022062.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACADVL gene
    ACADL2  ACAD82  ACADSB2  GCDH2  ACAD112  ACADS2  ACAD92  ACADM2  
    ACAD102  IVD2  
    6 SIMAP similar genes for ACADVL using alignment to 11 protein entries:     ACADV_HUMAN (see all proteins):
    ACAD9    IVD    ACADSB    ACADM    ACAD8    ACADS

    ACADVL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/127 SNPs in ACADVL are shown (see all 127)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0003564
    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)4--see VAR_0003562 R Q mis40--------
    VAR_0003384
    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)4--see VAR_0003382 K T mis40--------
    VAR_0003454
    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)4--see VAR_0003452 K N mis40--------
    VAR_0003414
    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)4--see VAR_0003412 A D mis40--------
    VAR_0003324
    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)4--see VAR_0003322 T N mis40--------
    VAR_0003484
    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)4--see VAR_0003482 M V mis40--------
    VAR_0003634
    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)4--see VAR_0003632 L P mis40--------
    VAR_0003374
    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)4--see VAR_0003372 L R mis40--------
    VAR_0003504
    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)4--see VAR_0003502 R H mis40--------
    VAR_0003534
    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)4--see VAR_0003532 D H mis40--------

    HapMap Linkage Disequilibrium report for ACADVL (7120444 - 7128592 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ACADVL:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2665200CNV Deletion23128226
    esv2422288CNV Deletion17116639
    nsv1962CNV Insertion18451855
    nsv907637CNV Loss21882294
    dgv3053n71CNV Loss21882294
    nsv457659CNV Loss19166990


    Human Gene Mutation Database (HGMD): ACADVL

    Locus Specific Mutation Databases (LSDB): ACADVL
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609575   
    OMIM disorders: 201475  
    UniProtKB/Swiss-Prot: ACADV_HUMAN, P49748
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 18 diseases for ACADVL:    About MalaCards
    very long-chain acyl-coenzyme a dehydrogenase deficiency    pericardial effusion    myoglobinuria recurrent    fatty acid oxidation disorders
    3-hydroxyacyl-coa dehydrogenase deficiency    vitamin b12 deficiency    hyperargininemia    sudden infant death syndrome
    autosomal recessive disease    cervical squamous cell carcinoma    hypoglycemia    respiratory failure
    hypertrophic cardiomyopathy    metabolic disorders    myopathy    squamous cell carcinoma
    cervicitis    tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for ACADVL:
    Systemic primary carnitine deficiency disease     Hypoglycemia

    ACADVL for disorders           About GeneDecksing

    10/17 Novoseek inferred disease relationships for ACADVL gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhabdomyolysis 80.5 14 19327992 (2), 12931630 (2), 16435213 (1), 16288870 (1) (see all 10)
    mcad deficiency 78.5 4 8650121 (1), 12487544 (1), 7586519 (1), 15193981 (1)
    myoglobinuria, recurrent 73.6 1 10738914 (1)
    cardiomyopathy 71.1 21 7479827 (2), 9877038 (2), 9709714 (1), 17206456 (1) (see all 15)
    hypoglycemia 65.9 15 16199475 (2), 16435213 (1), 17206456 (1), 12359260 (1) (see all 12)
    myopathy 61.3 7 19157942 (1), 15210884 (1), 9877038 (1), 15025677 (1) (see all 6)
    sudden infant death syndrome 48 2 15210884 (1), 11433098 (1)
    liver dysfunction 47 5 12359260 (1), 16621643 (1), 19156135 (1), 16880373 (1)
    death sudden 41.7 7 16199475 (1), 12359260 (1), 7479827 (1), 19156135 (1) (see all 5)
    fatty liver 38.4 2 11131350 (1), 11433098 (1)

    Genatlas disease: ACADVL
    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

    GeneTests: ACADVL
    GeneReviews: ACADVL
    Genetic Association Database (GAD): ACADVL
    Human Genome Epidemiology (HuGE) Navigator: ACADVL (3 documents)

    Export disorders for ACADVL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ACADVL gene, integrated from 9 sources (see all 139):
    (articles sorted by number of sources associating them with ACADVL)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 8845838)1, 2, 9 Andresen B.S.... Gregersen N. (1996)
    2. Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. (PubMed id 7668252)1, 2, 9 Aoyama T.... Hashimoto T. (1995)
    3. Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. (PubMed id 8554073)1, 2, 9 Souri M.... Hashimoto T. (1996)
    4. Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. (PubMed id 7769092)1, 2, 9 Aoyama T.... Hashimoto T. (1995)
    5. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. (PubMed id 10077518)1, 2, 9 Mathur A.... Strauss A.W. (1999)
    6. Genomic DNA organization of human mitochondrial very-long-chain acyl- CoA dehydrogenase and mutation analysis. (PubMed id 8554625)1, 2, 9 Orii K.O....Hashimoto T. (1995)
    7. Clear correlation of genotype with disease phenotype in very-long- chain acyl-CoA dehydrogenase deficiency. (PubMed id 9973285)1, 2, 9 Andresen B.S.... Gregersen N. (1999)
    8. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. (PubMed id 9546340)1, 2, 9 Smelt A.H.... Wintzen A.R. (1998)
    9. Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization. (PubMed id 8921384)1, 3, 9 Aoyama T....Hashimoto T. (1996)
    10. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 37 HGNC: 92 AceView: ACADVL Ensembl:ENSG00000072778 euGenes: HUgn37
    ECgene: ACADVL Kegg: 37 H-InvDB: ACADVL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACADVL Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADVL

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ACADVL gene:
    Search GeneIP for patents involving ACADVL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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