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ACADS Gene

protein-coding   GIFtS: 67
GCID: GC12P121163

Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain

(Previous names: acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain)
  See ACADS-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)
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Aliases
Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain1 2     Short-Chain Acyl-CoA Dehydrogenase2
SCAD2 3 5     Short-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial2
Acyl-Coenzyme A Dehydrogenase, C-2 To C-3 Short Chain1 2     Unsaturated Acyl-CoA Reductase2
Butyryl-CoA Dehydrogenase2 3     EC 1.3.8.13
ACAD32     EC 1.3.998
Mitochondrial Short-Chain Specific Acyl-CoA Dehydrogenase2     EC 1.3.99.28

External Ids:    HGNC: 901   Entrez Gene: 352   Ensembl: ENSG000001229717   OMIM: 6068855   UniProtKB: P162193   

Export aliases for ACADS gene to outside databases

Previous GC identifers: GC12M120059 GC12P120761 GC12P120946 GC12P119575 GC12P119547 GC12P119626 GC12P119648 GC12P118172


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACADS Gene:
This gene encodes a a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase
family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations
in this gene have been associated with Short Chain Acyl-CoA Dehydrogenase Deficiency. (provided by RefSeq, Jul
2008)

GeneCards Summary for ACADS Gene:
ACADS (acyl-CoA dehydrogenase, C-2 to C-3 short chain) is a protein-coding gene. Diseases associated with ACADS include carotid artery dissection, and short-chain acyl-coa dehydrogenase deficiency. GO annotations related to this gene include acyl-CoA dehydrogenase activity and flavin adenine dinucleotide binding. An important paralog of this gene is ACADL.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACADS gene promoter:
         MAZR   AML1a   AP-2gamma   Gfi-1   MZF-1   PPAR-gamma1   AP-2beta   PPAR-gamma2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACADS promoter sequence
   Search Chromatin IP Primers for ACADS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACADS


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

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P121163:  view genomic region     (about GC identifiers)

Start:
121,163,538 bp from pter      End:
121,177,811 bp from pter
Size:
14,274 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACADS_HUMAN, P16219 (See protein sequence)
Recommended Name: Short-chain specific acyl-CoA dehydrogenase, mitochondrial precursor  
Size: 412 amino acids; 44297 Da
Cofactor: FAD
Subunit: Homotetramer
Miscellaneous: A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present
in mammalian tissues
1 PDB 3D structure from and Proteopedia for ACADS:
2VIG (3D)    
Secondary accessions: P78331

Explore the universe of human proteins at neXtProt for ACADS: NX_P16219

Explore proteomics data for ACADS at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACADS (P16219) (see all 11)
     EIQRLVI  IAMEEISR  QSVELPET  GAGLDYLAY 


    See ACADS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000008.1  
    ENSEMBL proteins: 
     ENSP00000242592   ENSP00000401045  
    Reactome Protein details: P16219

    ACADS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for ACADS
    OriGene MassSpec for ACADS
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    Novus Biologicals ACADS Proteins
    Novus Biologicals ACADS Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ACADS
    Cloud-Clone Corp. Proteins for ACADS

     
    Search eBioscience for Proteins for ACADS 

    ACADS Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for ACADS

    ACADS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ACADS
    Cloud-Clone Corp. CLIAs for ACADS
    Search eBioscience for ELISAs for ACADS 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR006089 Acyl-CoA_DH_CS
     IPR009100 AcylCoA_DH/oxidase_NM_dom
     IPR009075 AcylCo_DH/oxidase_C

    Graphical View of Domain Structure for InterPro Entry P16219

    ProtoNet protein and cluster: P16219

    1 Blocks protein domain: IPB006089 Acyl-CoA dehydrogenase

    UniProtKB/Swiss-Prot: ACADS_HUMAN, P16219
    Similarity: Belongs to the acyl-CoA dehydrogenase family


    Find genes that share domains with ACADS           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACADS_HUMAN, P16219
    Catalytic activity: Butanoyl-CoA + electron-transfer flavoprotein = 2-butenoyl-CoA + reduced electron-transfer
    flavoprotein

         Genatlas biochemistry entry for ACADS:
    acyl-CoA dehydrogenase,short chain (C2-C3),mitochondrial,fatty acid beta-oxidation,with a frequent variant alleles
    511C-T,625G-A together conferring susceptibility to ethylmalonic aciduria

         Enzyme Numbers (IUBMB): EC 1.3.992 EC 1.3.8.11 EC 1.3.99.22

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:0003995acyl-CoA dehydrogenase activity TAS--
    GO:0004085butyryl-CoA dehydrogenase activity IEA--
    GO:0016491oxidoreductase activity ----
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
         
    Find genes that share ontologies with ACADS           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ACADS:
     Decreased POU5F1-GFP protein e  Decreased nuclei size in G2M 

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Acads):
     behavior/neurological  cellular  homeostasis/metabolism  integument  liver/biliary system 
     mortality/aging  muscle  renal/urinary system 

    Find genes that share phenotypes with ACADS           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACADS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACADS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACADS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACADS

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACADS:
    hsa-mir-92a-3p (MIRT049063), hsa-mir-26b-5p (MIRT029099), hsa-mir-484 (MIRT041697)

    Block miRNA regulation of human, mouse, rat ACADS using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate ACADS:
    hsa-miR-4303 hsa-miR-378* hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidACADS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACADS
    Predesigned siRNA for gene silencing in human, mouse, rat ACADS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACADS

    Clone
    Products:
         
    OriGene clones in human, mouse for ACADS (see all 6)
    OriGene ORF clones in mouse, rat for ACADS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACADS (NM_000017)
    Sino Biological Human cDNA Clone for ACADS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACADS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACADS

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ACADS
    Browse ESI BIO Cell Lines and PureStem Progenitors for ACADS 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACADS_HUMAN, P16219: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytoskeleton2
    cytosol2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA16729965
    GO:0005759mitochondrial matrix TAS--
    GO:0031966mitochondrial membrane IEA--

    Find genes that share ontologies with ACADS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ACADS About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    Beta oxidation of hexanoyl-CoA to butanoyl-CoA0.00
    mitochondrial fatty acid beta-oxidation of saturated fatty acids0.00
    Beta oxidation of butanoyl-CoA to acetyl-CoA0.00
    Mitochondrial Fatty Acid Beta-Oxidation0.00
    3Fatty acid metabolism
    Fatty acid metabolism0.42
    Fatty acid degradation0.42
    4Mitochondrial LC-Fatty Acid Beta-Oxidation
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    Fatty Acid Beta Oxidation0.35
    5Carbon metabolism
    Carbon metabolism0.38


    Find genes that share SuperPaths with ACADS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ACADS
        Fatty Acid Beta Oxidation
    Mitochondrial LC-Fatty Acid Beta-Oxidation


    2 Reactome Pathways for ACADS
        Beta oxidation of hexanoyl-CoA to butanoyl-CoA
    Beta oxidation of butanoyl-CoA to acetyl-CoA


    Selected Kegg Pathways  (Kegg details for ACADS) (see all 6):
        Fatty acid degradation
    Valine, leucine and isoleucine degradation
    Butanoate metabolism
    Metabolic pathways
    Carbon metabolism

    UniProtKB/Swiss-Prot: ACADS_HUMAN, P16219
    Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACADS: 

              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACADS

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

    Selected Interacting proteins for ACADS (P162193 ENSP000002425924) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKAA1Q131313I2D: score=1 
    SLC2A4P146723I2D: score=1 
    ACAA1ENSP000003336644STRING: ENSP00000333664
    ACAA2ENSP000002850934STRING: ENSP00000285093
    ACAT1ENSP000002658384STRING: ENSP00000265838
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0008152metabolic process ----
    GO:0033539fatty acid beta-oxidation using acyl-CoA dehydrogenase IEA--
    GO:0042594response to starvation IEA--
    GO:0044255cellular lipid metabolic process TAS--

    Find genes that share ontologies with ACADS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACADS

    Selected HMDB Compounds for ACADS (see all 38)    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--

    3 DrugBank Compounds for ACADS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Acetoacetyl-Coenzyme A-- 1420-36-6target--17139284 17016423 10592235
    Flavin-Adenine Dinucleotide-- 146-14-5target--17139284 17016423 10592235
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for ACADS gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ethylmalonic acid 97.2 13 9499414 (2), 14595061 (2), 8725270 (1), 16101709 (1) (see all 5)
    butyrylcarnitine 95.9 4 16101709 (1), 12706376 (1), 18054510 (1), 12736383 (1)
    acyl-coa 93.3 104 9250376 (3), 7988059 (3), 8102510 (2), 14506246 (2) (see all 56)
    isobutyryl-carnitine 90 2 16906473 (1), 12736383 (1)
    fatty acid 63.1 16 19625492 (1), 14506246 (1), 16020546 (1), 18175080 (1) (see all 12)
    s-adenosylmethionine 53.9 2 14595061 (1), 12736383 (1)
    carnitine 53.1 1 12736383 (1)
    17beta-hydroxysteroid 43.7 1 11719564 (1)
    riboflavin 40.9 2 9250376 (1), 18836889 (1)
    11beta-hydroxysteroid 36.4 1 1639208 (1)



    Find genes that share compounds with ACADS           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACADS gene: 
    NM_000017.2  

    Unigene Cluster for ACADS:

    Acyl-CoA dehydrogenase, C-2 to C-3 short chain
    Hs.507076  [show with all ESTs]
    Unigene Representative Sequence: NM_000017
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000242592(uc001tza.4) ENST00000539690 ENST00000411593(uc010szl.1)

    miRNA
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    Block miRNA regulation of human, mouse, rat ACADS using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate ACADS:
    hsa-miR-4303 hsa-miR-378* hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidACADS 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ACADS
    Predesigned siRNA for gene silencing in human, mouse, rat ACADS
    Clone
    Products:
         
    OriGene clones in human, mouse for ACADS (see all 6)
    OriGene ORF clones in mouse, rat for ACADS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACADS (NM_000017)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACADS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACADS
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ACADS
    OriGene qSTAR qPCR primer pairs in human, mouse for ACADS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACADS
      QuantiTect SYBR Green Assays in human, mouse, rat ACADS
      QuantiFast Probe-based Assays in human, mouse, rat ACADS

    Additional mRNA sequence: 

    AB527081.1 AK300645.1 BC025963.1 M26393.1 

    5 DOTS entries:

    DT.40215381  DT.95202914  DT.100695162  DT.100763281  DT.92432437 

    Selected AceView cDNA sequences (see all 136):

    CR607224 BM790424 BI754165 CR615642 AL557983 CR608104 BQ954159 CR596637 
    BU539840 CR600438 CR613518 BE869341 CR613358 BQ448199 BI770149 BM921277 
    CA430949 BM700560 BM468073 BM923843 AI953427 CR606773 CR604877 CA307161 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ACADS    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
    SP1:                                -                                             
    SP2:                                -                 -                           
    SP3:                                                                              


    ECgene alternative splicing isoforms for ACADS

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACADS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTGTGACT
    ACADS Expression
    About this image


    ACADS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ACADS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACADS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.507076
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACADS: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ACADS
    OriGene qSTAR qPCR primer pairs in human, mouse for ACADS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACADS
    QuantiTect SYBR Green Assays in human, mouse, rat ACADS
    QuantiFast Probe-based Assays in human, mouse, rat ACADS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADS

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for ACADS gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acads1 , 5 acyl-Coenzyme A dehydrogenase, short chain1, 5 86.65(n)1
    90.53(a)1
      5 (55.99 cM)5
    114091  NM_007383.31  NP_031409.21 
     1151102995 
    chicken
    (Gallus gallus)
    Aves ACADS1 acyl-CoA dehydrogenase, C-2 to C-3 short chain 75.59(n)
    82.24(a)
      416969  NM_001006193.1  NP_001006193.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACADS6
    acyl-CoA dehydrogenase, C-2 to C-3 short chain
    82(a)
    1 ↔ 1
    GL343338.1(190379-199362)
    African clawed frog
    (Xenopus laevis)
    Amphibia acads-prov2 short chain acyl-coenzyme A dehydrogenase 73.55(n)    BC055986.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc44c012 Transcribed sequence with weak similarity to protein more 77.05(n)    57050009 
    fruit fly
    (Drosophila melanogaster)
    Insecta Arc421 , 3 transcription initiation from Pol II
    promoter more3
    Arc421
    69(a)
    (best of 2)3
    69.98(n)1
    70.72(a)1
      92B43
    423641  NM_142583.21  NP_650840.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C37A2.33 acyl-CoA dehydrogenase 33(a)
    (best of 2)
      I(6792972-6795134)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACADS gene
    ACADL2  ACADSB2  ACAD82  GCDH2  ACAD112  ACAD92  ACADM2  ACAD102  
    IVD2  ACADVL2  
    10 SIMAP similar genes for ACADS using alignment to 4 protein entries:     ACADS_HUMAN (see all proteins):
    ACADSB    ACAD8    IVD    ACAD9    ACADM    GCDH
    ACADL    ACADVL    DKFZp686M24262    ACAD11

    Find genes that share paralogs with ACADS           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACADS (see all 467)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs574436651,2,,4
    C,FAcyl-CoA dehydrogenase short-chain deficiency (ACADSD)4 pathogenic1120969206(+) ACTCAC/G/TGGGTT 2 R W mis12NA EU 5257
    rs289408741,2,,4
    CAcyl-CoA dehydrogenase short-chain deficiency (ACADSD)4 pathogenic1120969252(+) GGAGGC/TTTCGG 2 A V mis1 ese30--------
    rs289417731,2,,4
    C,FAcyl-CoA dehydrogenase short-chain deficiency (ACADSD)4 pathogenic1120970481(+) CGCCTC/TGGAGG 2 S L mis1 ese31Minor allele frequency- T:0.00NA 4432
    rs289408751,2,,4
    CAcyl-CoA dehydrogenase short-chain deficiency (ACADSD)4 pathogenic1120970660(+) CAGAGC/TGGCAC 2 R W mis1 ese30--------
    rs289408721,2,,4
    C,FAcyl-CoA dehydrogenase short-chain deficiency (ACADSD)4 pathogenic1120970669(+) ACTACC/TGCGAC 2 R C mis1 ese31Minor allele frequency- T:0.00NA 4484
    VAR_0003114
    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)4--see VAR_0003112 G C mis40--------
    VAR_0003104
    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)4--see VAR_0003102 R W mis40--------
    VAR_0135654
    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)4--see VAR_0135652 G S mis40--------
    VAR_0003124
    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)4--see VAR_0003122 R C mis40--------
    VAR_0135694
    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)4--see VAR_0135692 R W mis40--------

    HapMap Linkage Disequilibrium report for ACADS (121163538 - 121177811 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ACADS:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1488435CNV Deletion17803354
    esv2746477CNV Deletion23290073
    esv2746476CNV Deletion23290073
    esv1004916CNV Deletion20482838
    nsv899557CNV Loss21882294
    nsv899558CNV Loss21882294
    nsv521928CNV Gain19592680

    Human Gene Mutation Database (HGMD): ACADS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACADS
    DNA2.0 Custom Variant and Variant Library Synthesis for ACADS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606885   
    OMIM disorders: 201470  
    UniProtKB/Swiss-Prot: ACADS_HUMAN, P16219
  • Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]: An inborn error of mitochondrial
    fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage
    myopathy in adults. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for ACADS:    
    About MalaCards
    carotid artery dissection    short-chain acyl-coa dehydrogenase deficiency    infantile hypotonia    ethylmalonic encephalopathy
    diverticulitis    riboflavin deficiency    isovaleric acidemia    systemic primary carnitine deficiency disease
    alexithymia    fatty acid oxidation disorders    autoimmune thyroiditis    angina pectoris
    sudden infant death syndrome

    4 diseases from the University of Copenhagen DISEASES database for ACADS:
    Diverticulitis     Systemic primary carnitine deficiency disease     Carotid artery dissection     Isovaleric acidemia

    Find genes that share disorders with ACADS           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ACADS gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    scad deficiency 99.2 91 11134486 (6), 14595061 (5), 14506246 (4), 15534767 (4) (see all 31)
    encephalopathy, ethylmalonic 89.5 2 16906473 (1), 18950661 (1)
    lipid storage myopathy 83.9 1 2260861 (1)
    mcad deficiency 81.5 2 14707514 (1), 18836889 (1)
    aciduria organic 72.1 3 1635815 (2)
    enzyme deficiency 61 1 17072495 (1)
    developmental delay 57.1 1 18950661 (1)
    metabolic disorder 54.3 4 18714517 (1), 11134486 (1), 12706376 (1), 15560374 (1)
    hypoglycemia 47.4 1 15560374 (1)
    myopathy 47 2 20376488 (1), 9932958 (1)

    Genatlas disease: ACADS
    myopathy,lipid storage

    Genetic Association Database (GAD): ACADS
    Human Genome Epidemiology (HuGE) Navigator: ACADS (13 documents)

    Export disorders for ACADS 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)
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    PubMed articles for ACADS gene, integrated from 10 sources (see all 107):
    (articles sorted by number of sources associating them with ACADS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency. (PubMed id 2565344)1, 2, 3 Naito E.... Tanaka K. (J. Clin. Invest. 1989)
    2. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. (PubMed id 11134486)1, 2, 9 Corydon M.J.... Gregersen N. (Pediatr. Res. 2001)
    3. Structural organization of the human short-chain acyl-CoA dehydrogenase gene. (PubMed id 9383286)1, 2, 9 Corydon M.J.... Gregersen N. (Mamm. Genome 1997)
    4. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. (PubMed id 9499414)1, 2, 9 Gregersen N.... Koelvraa S. (Hum. Mol. Genet. 1998)
    5. The 625G&gt;A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots. (PubMed id 15902559)1, 4, 9 van Maldegem B.T....Wijburg F.A. (J. Inherit. Metab. Dis. 2005)
    6. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. (PubMed id 12706374)1, 4, 9 Nagan N....Matern D. (Mol. Genet. Metab. 2003)
    7. Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency. (PubMed id 1692038)1, 2, 9 Naito E.... Tanaka K. (J. Clin. Invest. 1990)
    8. The minor C-allele of rs2014355 in ACADS is associated with reduced insulin release following an oral glucose load. (PubMed id 21211036)1, 4 Hornbak M....SandbA ( 2011)
    9. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    10. Circadian clock gene polymorphisms in alcohol use disorders and alcohol consumption. (PubMed id 20554694)1, 4 Kovanen L....Partonen T. (Alcohol Alcohol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 35 HGNC: 90 AceView: ACADS Ensembl:ENSG00000122971 euGenes: HUgn35
    ECgene: ACADS Kegg: 35 H-InvDB: ACADS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACADS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ACADS[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Butyryl_CoA_dehydrogenase

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

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



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