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Aliases for ACADS Gene

Aliases for ACADS Gene

  • Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain 2 3
  • 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 Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 FAD per subunit.;
    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:

Antibody Products

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:0003995 acyl-CoA dehydrogenase activity TAS --
GO:0004085 butyryl-CoA dehydrogenase activity IBA --
GO:0009055 electron carrier activity IBA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
genes like me logo Genes that share ontologies with ACADS: view
genes like me logo Genes that share phenotypes with ACADS: view

Animal Model Products

miRNA for ACADS Gene

miRTarBase miRNAs that target ACADS

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACADS

In Situ Assay Products

Flow Cytometry Products

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
cytoskeleton 2
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ACADS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IDA 16729965
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ACADS: view

Pathways & Interactions for ACADS Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006635 fatty acid beta-oxidation TAS --
GO:0008152 metabolic process --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA --
GO:0042594 response to starvation IEA --
GO:0044255 cellular lipid metabolic process TAS --
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, HMDB, ApexBio, 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 864
Trilostane Approved, Investigational, Withdrawn Pharma 2
Riboflavin Approved Nutra 138
S-Adenosylmethionine Approved Nutra 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
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACADS

Flow Cytometry Products

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

In Situ Assay 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 MAF
rs3914 Benign, Benign 120,737,096(+) AGCCG(C/T)GGCTG synonymous-codon, reference
rs3915 Benign, Benign 120,738,876(-) GCAGC(A/C/G/T)CGCCA reference, synonymous-codon
rs3916 -- 120,739,469(+) CCCCA(C/G/T)GACTG utr-variant-3-prime
rs9204 -- 120,739,975(+) GTGTG(A/G)CTGAC utr-variant-3-prime
rs487915 -- 120,738,746(+) CTCTC(C/T)GTCCT intron-variant

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: 39.64% 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

HapMap Linkage Disequilibrium report
ACADS
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

(15) 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
  • eme
infantile hypotonia
medium-chain acyl-coenzyme a dehydrogenase deficiency
  • mcad deficiency
isovaleric acidemia
  • isovaleryl-coa dehydrogenase deficiency
- elite association
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 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) 23 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) 23 67
  3. Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain acylCoA dehydrogenase deficiency. (PMID: 20389114) Stagi S. … Donati A. (Horm Res Paediatr 2010) 23 67
  4. Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria. (PMID: 20443061) Pedersen C.B. … Gregersen N. (J. Inherit. Metab. Dis. 2010) 23 67
  5. Chronic early postnatal administration of ethylmalonic acid to rats causes behavioral deficit. (PMID: 18950661) Schuck P.F. … Wajner M. (Behav. Brain Res. 2009) 23 67

Products for ACADS Gene

Sources for ACADS Gene

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