Seroatlas · Human Serome Atlas

ACADSB

Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial

Also known as: ACAD7, ACDSB_HUMAN, SBCAD

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P45954
Gene
ACADSB
Ensembl
ENSG00000196177
Chromosome
10
Canonical length
432 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Mitochondria
Quaternary structure
Homotetramer

OverviewNCBI Gene

Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

432 residues, UniProt reviewed canonical sequence.

>P45954|ACADSB
     1  MEGLAVRLLR GSRLLRRNFL TCLSSWKIPP HVSKSSQSEA LLNITNNGIH FAPLQTFTDE
    61  EMMIKSSVKK FAQEQIAPLV STMDENSKME KSVIQGLFQQ GLMGIEVDPE YGGTGASFLS
   121  TVLVIEELAK VDASVAVFCE IQNTLINTLI RKHGTEEQKA TYLPQLTTEK VGSFCLSEAG
   181  AGSDSFALKT RADKEGDYYV LNGSKMWISS AEHAGLFLVM ANVDPTIGYK GITSFLVDRD
   241  TPGLHIGKPE NKLGLRASST CPLTFENVKV PEANILGQIG HGYKYAIGSL NEGRIGIAAQ
   301  MLGLAQGCFD YTIPYIKERI QFGKRLFDFQ GLQHQVAHVA TQLEAARLLT YNAARLLEAG
   361  KPFIKEASMA KYYASEIAGQ TTSKCIEWMG GVGYTKDYPV EKYFRDAKIG TIYEGASNIQ
   421  LNTIAKHIDA EY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACADSB 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)
0.28
Highest tissue expression
337 nTPM

Expression across tissuesHPA

Tissue

  • liver: 337 nTPM
  • kidney: 84 nTPM
  • tongue: 65 nTPM
  • duodenum: 49 nTPM
  • skeletal muscle: 40 nTPM
  • heart muscle: 36 nTPM

Single-cell type

  • hepatocytes: 656 nCPM
  • breast hormone-responsive cells: 146 nCPM
  • prostatic glandular cells: 107 nCPM
  • transitional alveolar cells: 101 nCPM
  • parietal cells: 99 nCPM
  • alveolar cells type 2: 85 nCPM

Immune cell

  • basophil: 17 nTPM
  • eosinophil: 12 nTPM
  • MAIT T-cell: 10 nTPM
  • gdT-cell: 8.8 nTPM
  • NK-cell: 8.6 nTPM
  • naive CD8 T-cell: 8.3 nTPM

Brain region

  • cerebellum: 43 nTPM
  • choroid plexus: 42 nTPM
  • cerebral cortex: 35 nTPM
  • hypothalamus: 31 nTPM
  • white matter: 31 nTPM
  • basal ganglia: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACADSB.

Disease | AllUniProt

Conditions ACADSB is implicated in, by any mechanism.

  • Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) MIM:610006

Disease | GeneticClinVar

43 pathogenic / likely-pathogenic of 361 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.17
gnomAD pLI
0
gnomAD missense Z
-0.07
DepMap mean gene effect
-0.05
DepMap dependency class
none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ACADSB as an antibody target. Whether an autoantibody or antibody against ACADSB could matter depends on whether native ACADSB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACADSB 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 ACADSB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACADSB. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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