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ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain [ Homo sapiens (human) ]

Gene ID: 35, updated on 18-Jan-2015
Official Symbol
ACADSprovided by HGNC
Official Full Name
acyl-CoA dehydrogenase, C-2 to C-3 short chainprovided by HGNC
Primary source
HGNC:HGNC:90
See related
Ensembl:ENSG00000122971; HPRD:06053; MIM:606885; Vega:OTTHUMG00000169203
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]
Orthologs
See ACADS in MapViewer
Location:
12q24.31
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (120725768..120740008)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121163544..121177811)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene malectin Neighboring gene unc-119 homolog B (C. elegans) Neighboring gene microRNA 4700 Neighboring gene signal peptide peptidase like 3 Neighboring gene ADP-ribosylation factor 1 pseudogene 2 Neighboring gene chloride intracellular channel 1 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide perspective of genetic variation in human metabolism.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
NHGRI GWA Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acyl-CoA dehydrogenase activity TAS
Traceable Author Statement
more info
 
butyryl-CoA dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
fatty-acyl-CoA binding IEA
Inferred from Electronic Annotation
more info
 
flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
butyrate catabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation using acyl-CoA dehydrogenase IEA
Inferred from Electronic Annotation
more info
 
protein homotetramerization IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
response to starvation IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
short-chain specific acyl-CoA dehydrogenase, mitochondrial
Names
short-chain specific acyl-CoA dehydrogenase, mitochondrial
butyryl-CoA dehydrogenase
unsaturated acyl-CoA reductase
acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain
mitochondrial short-chain specific acyl-CoA dehydrogenase
NP_000008.1

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 

    Range
    5001..19241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000017.3NP_000008.1  short-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor

    See proteins identical to 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, DB487184, DB505221, M26393
    Consensus CDS
    CCDS9207.1
    UniProtKB/TrEMBL
    E5KSD5
    UniProtKB/Swiss-Prot
    P16219
    Related
    ENSP00000242592, OTTHUMP00000240402, ENST00000242592, OTTHUMT00000402861
    Conserved Domains (2) summary
    cd01158
    Location:36408
    SCAD_SBCAD; Short chain acyl-CoA dehydrogenases and eukaryotic short/branched chain acyl-CoA dehydrogenases
    COG1960
    Location:33412
    CaiA; Acyl-CoA dehydrogenases [Lipid metabolism]
  2. NM_001302554.1NP_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, DB487184, DB505221, M26393
    UniProtKB/TrEMBL
    B4DUH1
    UniProtKB/TrEMBL
    E9PE82
    UniProtKB/Swiss-Prot
    P16219
    Conserved Domains (2) summary
    cd01158
    Location:36404
    SCAD_SBCAD; Short chain acyl-CoA dehydrogenases and eukaryotic short/branched chain acyl-CoA dehydrogenases
    COG1960
    Location:33408
    CaiA; Acyl-CoA dehydrogenases [Lipid metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    120725768..120740008
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    121132346..121146588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    118172924..118187098
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)