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Aliases for ACADS Gene

Aliases for ACADS Gene

  • Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain 2 3 5
  • Acyl-Coenzyme A Dehydrogenase, C-2 To C-3 Short Chain 2 3
  • Butyryl-CoA Dehydrogenase 3 4
  • SCAD 3 4
  • Mitochondrial Short-Chain Specific Acyl-CoA Dehydrogenase 3
  • Unsaturated Acyl-CoA Reductase 3
  • EC 1.3.99.2 63
  • EC 1.3.8.1 4
  • EC 1.3.99 63
  • ACAD3 3

External Ids for ACADS Gene

Previous GeneCards Identifiers for ACADS Gene

  • GC12M120059
  • GC12P120946
  • GC12P119575
  • GC12P119547
  • GC12P119626
  • GC12P119648
  • GC12P121163
  • GC12P118172

Summaries for ACADS Gene

Entrez Gene Summary for ACADS Gene

  • This gene encodes 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 (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]

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 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of and Ethylmalonic Encephalopathy. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Carbon metabolism. GO annotations related to this gene include flavin adenine dinucleotide binding and fatty-acyl-CoA binding. An important paralog of this gene is ACAD8.

UniProtKB/Swiss-Prot for ACADS Gene

  • Introduces a double bond at position 2 in saturated acyl-CoAs of short chain length, i.e. less than 6 carbon atoms.

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

Genomics for ACADS Gene

Regulatory Elements for ACADS Gene

Enhancers for ACADS 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 ACADS on UCSC Golden Path with GeneCards custom track

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

ENSRs around ACADS on UCSC Golden Path with GeneCards custom track

Genomic Location for ACADS Gene

Chromosome:
12
Start:
120,725,735 bp from pter
End:
120,740,008 bp from pter
Size:
14,274 bases
Orientation:
Plus strand

Genomic View for ACADS Gene

Genes around ACADS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACADS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACADS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACADS Gene

Proteins for ACADS Gene

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

    Protein Symbol:
    P16219-ACADS_HUMAN
    Recommended name:
    Short-chain specific acyl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    P16219
    Secondary Accessions:
    • P78331

    Protein attributes for ACADS Gene

    Size:
    412 amino acids
    Molecular mass:
    44297 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer.
    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 ACADS Gene

neXtProt entry for ACADS Gene

Proteomics data for ACADS Gene at MOPED

Post-translational modifications for ACADS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACADS Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACADS Gene

Gene Families for ACADS Gene

Graphical View of Domain Structure for InterPro Entry

P16219

UniProtKB/Swiss-Prot:

ACADS_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 ACADS: view

Function for ACADS Gene

Molecular function for ACADS Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
A short-chain acyl-CoA + electron-transfer flavoprotein = a short-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.
UniProtKB/Swiss-Prot Function:
Introduces a double bond at position 2 in saturated acyl-CoAs of short chain length, i.e. less than 6 carbon atoms.

Enzyme Numbers (IUBMB) for ACADS Gene

Gene Ontology (GO) - Molecular Function for ACADS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IBA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
genes like me logo Genes that share ontologies with ACADS: view
genes like me logo Genes that share phenotypes with ACADS: view

Human Phenotype Ontology for ACADS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ACADS Gene

miRTarBase miRNAs that target ACADS

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACADS Gene

Localization for ACADS Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACADS Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACADS Gene COMPARTMENTS Subcellular localization image for ACADS gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
cytoskeleton 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for ACADS Gene

Pathways & Interactions for ACADS Gene

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

UniProtKB/Swiss-Prot P16219-ACADS_HUMAN

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

Interacting Proteins for ACADS Gene

Gene Ontology (GO) - Biological Process for ACADS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IEA,IBA --
GO:0046359 butyrate catabolic process IEA,IBA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ACADS: view

No data available for SIGNOR curated interactions for ACADS Gene

Drugs & Compounds for ACADS Gene

(17) Drugs for ACADS Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 906
Trilostane Approved, Investigational, Withdrawn Pharma 2
Acetoacetyl-CoA Experimental Pharma Target 0
Methacrylyl-CoA Experimental Pharma 0

(47) Additional Compounds for ACADS 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

(7) ApexBio Compounds for ACADS Gene

Compound Action Cas Number
AGI-6780 IDH2/R140Q mutation inhibitor 1432660-47-3
CPI-613 PDH/α-KGDH inhibitor 95809-78-2
Gimeracil Dihydropyrimidine dehydrogenase inhibitor 103766-25-2
Isosafrole A stiripentol analog, a potent LDH inhibitor. 120-58-1
Mycophenolate Mofetil IMPDH inhibitor 128794-94-5
Stiripentol An LDH inhibitor 49763-96-4
Trilostane 13647-35-3
genes like me logo Genes that share compounds with ACADS: view

Transcripts for ACADS Gene

mRNA/cDNA for ACADS Gene

Unigene Clusters for ACADS Gene

Acyl-CoA dehydrogenase, C-2 to C-3 short chain:
Representative Sequences:

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

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

Relevant External Links for ACADS Gene

GeneLoc Exon Structure for
ACADS
ECgene alternative splicing isoforms for
ACADS

Expression for ACADS Gene

mRNA expression in normal human tissues for ACADS Gene

mRNA differential expression in normal tissues according to GTEx for ACADS Gene

This gene is overexpressed in Liver (x7.8) and Muscle - Skeletal (x4.9).

Protein differential expression in normal tissues from HIPED for ACADS Gene

This gene is overexpressed in Liver (10.7) and Nasopharynx (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACADS Gene



SOURCE GeneReport for Unigene cluster for ACADS Gene Hs.507076

genes like me logo Genes that share expression patterns with ACADS: view

Protein tissue co-expression partners for ACADS Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ACADS Gene

Orthologs for ACADS Gene

This gene was present in the common ancestor of animals.

Orthologs for ACADS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACADS 35
  • 88.67 (n)
  • 89.81 (a)
ACADS 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACADS 35
  • 87.97 (n)
  • 91.73 (a)
ACADS 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acads 35
  • 86.65 (n)
  • 90.53 (a)
Acads 16
Acads 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACADS 35
  • 99.03 (n)
  • 99.51 (a)
ACADS 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acads 35
  • 86.08 (n)
  • 90.29 (a)
oppossum
(Monodelphis domestica)
Mammalia ACADS 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACADS 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACADS 35
  • 75.59 (n)
  • 82.24 (a)
ACADS 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACADS 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acads 35
  • 71.3 (n)
  • 82.32 (a)
MGC76107 35
African clawed frog
(Xenopus laevis)
Amphibia acads-prov 35
zebrafish
(Danio rerio)
Actinopterygii acads 35
  • 70.44 (n)
  • 75.58 (a)
wufc44c01 35
acads 36
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8763 35
fruit fly
(Drosophila melanogaster)
Insecta Arc42 37
  • 69 (a)
CG4860 37
  • 61 (a)
Arc42 35
  • 69.98 (n)
  • 70.72 (a)
Arc42 36
  • 70 (a)
OneToMany
CG4860 36
  • 56 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001951 35
  • 69.16 (n)
  • 74.67 (a)
worm
(Caenorhabditis elegans)
Secernentea C02D5.1 37
  • 32 (a)
C37A2.3 37
  • 33 (a)
acdh-5 36
  • 29 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6004 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6600 36
  • 29 (a)
ManyToMany
Species with no ortholog for ACADS:
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 ACADS Gene

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

Paralogs for ACADS Gene

Paralogs for ACADS Gene

(10) SIMAP similar genes for ACADS Gene using alignment to 4 proteins:

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

Variants for ACADS Gene

Sequence variations from dbSNP and Humsavar for ACADS Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_000310 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
VAR_000311 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
VAR_000312 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) 120,737,893(+) ACTCA(C/G/T)GGGTT intron-variant, reference, missense
rs1799958 - 120,738,280(+) TTCAG(A/G)GCATC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv521928 CNV Gain 19592680
nsv899557 CNV Loss 21882294
nsv899558 CNV Loss 21882294
esv2746476 CNV Deletion 23290073
esv2746477 CNV Deletion 23290073
esv1004916 CNV Deletion 20482838
esv1488435 CNV Deletion 17803354

Variation tolerance for ACADS Gene

Residual Variation Intolerance Score: 39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.63; 82.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACADS Gene

Human Gene Mutation Database (HGMD)
ACADS

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

Disorders for ACADS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
acyl-coa dehydrogenase, short-chain, deficiency of
  • short-chain acyl-coa dehydrogenase deficiency
ethylmalonic encephalopathy
  • early myoclonic encephalopathy
organic acidemia
  • organic acid metabolism disorder
isovaleric acidemia
  • isovaleric acid coa dehydrogenase deficiency
acyl-coa dehydrogenase, medium chain, deficiency of
  • acyl-coa dehydrogenase medium-chain deficiency
- elite association - COSMIC cancer census association via MalaCards
Search ACADS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACADS_HUMAN
  • 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. {ECO:0000269 PubMed:11134486, ECO:0000269 PubMed:1692038, ECO:0000269 PubMed:9499414}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ACADS Gene

myopathy,lipid storage

Relevant External Links for ACADS

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

Publications for ACADS Gene

  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. (PMID: 2565344) Naito E. … Tanaka K. (J. Clin. Invest. 1989) 2 3 4 67
  2. Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress. (PMID: 20371198) Schmidt S.P. … Gregersen N. (Mol. Genet. Metab. 2010) 3 23
  3. Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. (PMID: 20376488) Shirao K. … Kobayashi M. (Hum. Genet. 2010) 3 23
  4. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. (PMID: 18054510) Tein I. … Gregersen N. (Mol. Genet. Metab. 2008) 3 23
  5. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. (PMID: 18523805) Pedersen C.B. … Gregersen N. (Hum. Genet. 2008) 3 23

Products for ACADS Gene

Sources for ACADS Gene

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