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    ACADS acyl-CoA dehydrogenase short chain [ Homo sapiens (human) ]

    Gene ID: 35, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ACADSprovided by HGNC
    Official Full Name
    acyl-CoA dehydrogenase short chainprovided by HGNC
    Primary source
    HGNC:HGNC:90
    See related
    Ensembl:ENSG00000122971 MIM:606885; AllianceGenome:HGNC:90
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCAD; ACAD3
    Summary
    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]
    Expression
    Broad expression in duodenum (RPKM 34.4), fat (RPKM 33.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACADS in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (120725826..120740008)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (120714964..120729131)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121163629..121177811)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:121148178-121149020 Neighboring gene unc-119 lipid binding chaperone B Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:121163301-121163802 Neighboring gene microRNA 4700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121176341-121177046 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:121185508-121185723 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:121200901-121201064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121209105-121209605 Neighboring gene signal peptide peptidase like 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:121220845-121222044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7150 Neighboring gene ARF GTPase 1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4969 Neighboring gene uncharacterized LOC105500240

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. Shirao K, et al. Hum Genet, 2010 Jun. PMID 20376488
    2. 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. Gregersen N, et al. Hum Mol Genet, 1998 Apr. PMID 9499414
    3. New insights into the peroxisomal protein inventory: Acyl-CoA oxidases and -dehydrogenases are an ancient feature of peroxisomes. Camões F, et al. Biochim Biophys Acta, 2015 Jan. PMID 25307522
    4. Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. Vatanavicharn N, et al. Pediatr Int, 2011 Dec. PMID 22004070
    5. Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme. Nguyen TV, et al. Biochemistry, 2002 Sep 17. PMID 12220177

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Short-chain acyl-CoA dehydrogenase is a potential target for the treatment of vascular remodelling.
      Title: Short-chain acyl-CoA dehydrogenase is a potential target for the treatment of vascular remodelling.
    2. Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer.
      Title: Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer.
    3. Effects of genetic variations in Acads gene on the risk of chronic obstructive pulmonary disease.
      Title: Effects of genetic variations in Acads gene on the risk of chronic obstructive pulmonary disease.
    4. Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
      Title: Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
    5. The minor C-allele of the rs2014355 variant in ACADS gene is associated with exercise-induced increase in HDL cholesterol levels in Taiwanese adults.
      Title: The minor C-allele of the rs2014355 variant in ACADS gene is associated with exercise-induced increase in HDL cholesterol levels in Taiwanese adults.
    6. ACADS acts as a potential methylation biomarker associated with the proliferation and metastasis of hepatocellular carcinomas.
      Title: ACADS acts as a potential methylation biomarker associated with the proliferation and metastasis of hepatocellular carcinomas.
    7. Study discovered a high occurrence of two rare pathogenic variants-the deletion c.310_312delGAG and the substitution c.1138C>T, with allelic frequencies of 64% and 31%, respectively especially in the Roma ethnic group.
      Title: An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
    8. a link between ACADS susceptibility variants and abnormal beta-oxidation consistent with known altered kinetics of these variants
      Title: Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.
    9. Korean patients with Short-chain acyl-CoA dehydrogenase deficiency showed heterogenous clinical features and ACADS genotype.
      Title: Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.
    10. Thirteen proteins had significant alteration in protein levels in patients carrying variation c.319C>T in ACADS compared to controls and they belonged to various pathways, such as the antioxidant system and amino acid metabolism.
      Title: Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Deficiency of butyryl-CoA dehydrogenase
    MedGen: C0342783 OMIM: 201470 GeneReviews: Short-Chain Acyl-CoA Dehydrogenase Deficiency
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide perspective of genetic variation in human metabolism.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables acyl-CoA dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables acyl-CoA dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables short-chain fatty acyl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables short-chain fatty acyl-CoA dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in butyrate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid beta-oxidation IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrial matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    short-chain specific acyl-CoA dehydrogenase, mitochondrial
    Names
    acyl-CoA dehydrogenase, C-2 to C-3 short chain
    acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain
    butyryl-CoA dehydrogenase
    epididymis secretory sperm binding protein
    mitochondrial short-chain specific acyl-CoA dehydrogenase
    unsaturated acyl-CoA reductase
    NP_000008.1
    NP_001289483.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007991.1 RefSeqGene

      Range
      5059..19241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000017.4 → NP_000008.1  short-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_000008.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC025963, DB505221, M26393
      Consensus CDS
      CCDS9207.1
      UniProtKB/Swiss-Prot
      P16219, P78331
      UniProtKB/TrEMBL
      D4QEZ8, E5KSD5, E5KSE7
      Related
      ENSP00000242592.4, ENST00000242592.9
      Conserved Domains (2) summary
      cd01158
      Location:36 → 408
      SCAD_SBCAD; Short chain acyl-CoA dehydrogenases and eukaryotic short/branched chain acyl-CoA dehydrogenases
      COG1960
      Location:33 → 412
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

    2. NM_001302554.2 → NP_001289483.1  short-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon and contains an alternate exon in the 3' coding region but maintains the reading frame. It encodes isoform 2 which is shorter compared to isoform 1.
      Source sequence(s)
      AC069234, AK300645, BC025963, DB505221, M26393
      Consensus CDS
      CCDS76610.1
      UniProtKB/TrEMBL
      B4DUH1, E9PE82
      Related
      ENSP00000401045.2, ENST00000411593.2
      Conserved Domains (2) summary
      cd01158
      Location:36 → 404
      SCAD_SBCAD; Short chain acyl-CoA dehydrogenases and eukaryotic short/branched chain acyl-CoA dehydrogenases
      COG1960
      Location:33 → 408
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      120725826..120740008
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      120714964..120729131
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16219.1 GenPept UniProtKB/Swiss-Prot:P16219

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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