ACADS
Short-chain specific acyl-CoA dehydrogenase, mitochondrial
Also known as: ACAD3, ACADS_HUMAN, SCAD
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P16219
- Gene
- ACADS
- Ensembl
- ENSG00000122971
- Chromosome
- 12
- Canonical length
- 412 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Centrosome,Mitochondria,Mid piece,Principal piece,End piece
- Quaternary structure
- Homotetramer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
412 residues, UniProt reviewed canonical sequence.
>P16219|ACADS
1 MAAALLARAS GPARRALCPR AWRQLHTIYQ SVELPETHQM LLQTCRDFAE KELFPIAAQV
61 DKEHLFPAAQ VKKMGGLGLL AMDVPEELGG AGLDYLAYAI AMEEISRGCA STGVIMSVNN
121 SLYLGPILKF GSKEQKQAWV TPFTSGDKIG CFALSEPGNG SDAGAASTTA RAEGDSWVLN
181 GTKAWITNAW EASAAVVFAS TDRALQNKGI SAFLVPMPTP GLTLGKKEDK LGIRGSSTAN
241 LIFEDCRIPK DSILGEPGMG FKIAMQTLDM GRIGIASQAL GIAQTALDCA VNYAENRMAF
301 GAPLTKLQVI QFKLADMALA LESARLLTWR AAMLKDNKKP FIKEAAMAKL AASEAATAIS
361 HQAIQILGGM GYVTEMPAER HYRDARITEI YEGTSEIQRL VIAGHLLRSY RSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ACADS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 254 nTPM
Expression across tissuesHPA
Tissue
- liver: 254 nTPM
- skeletal muscle: 161 nTPM
- heart muscle: 91 nTPM
- duodenum: 80 nTPM
- tongue: 75 nTPM
- colon: 74 nTPM
Single-cell type
- enterocytes: 386 nCPM
- colonocytes: 277 nCPM
- hepatocytes: 241 nCPM
- enteric transient amplifying cells: 204 nCPM
- enteric stem cells: 142 nCPM
- paneth cells: 112 nCPM
Immune cell
- NK-cell: 20 nTPM
- intermediate monocyte: 16 nTPM
- naive CD4 T-cell: 15 nTPM
- classical monocyte: 15 nTPM
- T-reg: 15 nTPM
- naive CD8 T-cell: 14 nTPM
Brain region
- thalamus: 19 nTPM
- basal ganglia: 17 nTPM
- medulla oblongata: 16 nTPM
- white matter: 16 nTPM
- midbrain: 15 nTPM
- spinal cord: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ACADS.
Disease | AllUniProt
Conditions ACADS is implicated in, by any mechanism.
- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) MIM:201470
Disease | GeneticClinVar
94 pathogenic / likely-pathogenic of 504 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Deficiency of butyryl-CoA dehydrogenase
- ACADS-related disorder
- Inborn genetic diseases
- See cases
- Colon adenocarcinoma
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.95
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.58
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- fatty acid beta-oxidation
- fatty acid beta-oxidation using acyl-CoA dehydrogenase
- butyrate catabolic process
Molecular functions
- acyl-CoA dehydrogenase activity
- flavin adenine dinucleotide binding
- short-chain fatty acyl-CoA dehydrogenase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Acyl-CoA dehydrogenase, conserved site
- Acyl-CoA dehydrogenase/oxidase, middle domain
- Acyl-CoA dehydrogenase/oxidase, C-terminal
- Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain superfamily
- Acyl-CoA dehydrogenase/oxidase, N-terminal
- Acyl-CoA dehydrogenase-like, C-terminal
- Acyl-CoA dehydrogenase/oxidase, N-terminal domain superfamily
- Acyl-CoA oxidase/dehydrogenase, middle domain superfamily
- Acyl-CoA dehydrogenase, C-terminal domain
- Acyl-CoA dehydrogenase, middle domain
- Acyl-CoA dehydrogenase, N-terminal domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ACADS as an antibody target. Whether an autoantibody or antibody against ACADS could matter depends on whether native ACADS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ACADS is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ACADS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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