Seroatlas · Human Serome Atlas

ACAD9

Complex I assembly factor ACAD9, mitochondrial

Also known as: ACAD9_HUMAN, MGC14452, NPD002

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

Protein identityUniProt · HPA

UniProt accession
Q9H845
Gene
ACAD9
Ensembl
ENSG00000177646
Chromosome
3
Canonical length
621 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
Subcellular location
Mitochondria
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

621 residues, UniProt reviewed canonical sequence.

>Q9H845|ACAD9
     1  MSGCGLFLRT TAAARACRGL VVSTANRRLL RTSPPVRAFA KELFLGKIKK KEVFPFPEVS
    61  QDELNEINQF LGPVEKFFTE EVDSRKIDQE GKIPDETLEK LKSLGLFGLQ VPEEYGGLGF
   121  SNTMYSRLGE IISMDGSITV TLAAHQAIGL KGIILAGTEE QKAKYLPKLA SGEHIAAFCL
   181  TEPASGSDAA SIRSRATLSE DKKHYILNGS KVWITNGGLA NIFTVFAKTE VVDSDGSVKD
   241  KITAFIVERD FGGVTNGKPE DKLGIRGSNT CEVHFENTKI PVENILGEVG DGFKVAMNIL
   301  NSGRFSMGSV VAGLLKRLIE MTAEYACTRK QFNKRLSEFG LIQEKFALMA QKAYVMESMT
   361  YLTAGMLDQP GFPDCSIEAA MVKVFSSEAA WQCVSEALQI LGGLGYTRDY PYERILRDTR
   421  ILLIFEGTNE ILRMYIALTG LQHAGRILTT RIHELKQAKV STVMDTVGRR LRDSLGRTVD
   481  LGLTGNHGVV HPSLADSANK FEENTYCFGR TVETLLLRFG KTIMEEQLVL KRVANILINL
   541  YGMTAVLSRA SRSIRIGLRN HDHEVLLANT FCVEAYLQNL FSLSQLDKYA PENLDEQIKK
   601  VSQQILEKRA YICAHPLDRT C

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACAD9 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
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
38 nTPM

Expression across tissuesHPA

Tissue

  • skin: 38 nTPM
  • skeletal muscle: 27 nTPM
  • tongue: 27 nTPM
  • parathyroid gland: 26 nTPM
  • choroid plexus: 24 nTPM
  • esophagus: 20 nTPM

Single-cell type

  • myonuclei: 83 nCPM
  • endometrial glandular cells: 78 nCPM
  • endometrial luminal cells: 68 nCPM
  • breast lactating cells: 65 nCPM
  • sertoli cells: 63 nCPM
  • erythrocyte progenitors: 62 nCPM

Immune cell

  • non-classical monocyte: 26 nTPM
  • intermediate monocyte: 19 nTPM
  • myeloid DC: 18 nTPM
  • classical monocyte: 16 nTPM
  • total PBMC: 12 nTPM
  • plasmacytoid DC: 10 nTPM

Brain region

  • cerebellum: 13 nTPM
  • choroid plexus: 13 nTPM
  • midbrain: 13 nTPM
  • basal ganglia: 12 nTPM
  • cerebral cortex: 12 nTPM
  • white matter: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACAD9.

Disease | AllUniProt

Conditions ACAD9 is implicated in, by any mechanism.

  • Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) MIM:611126

Disease | GeneticClinVar

185 pathogenic / likely-pathogenic of 1,200 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)
0.81
gnomAD pLI
0
gnomAD missense Z
-0.18
DepMap mean gene effect
-0.28
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% 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

InteractionsUniProt · HPA

Protein binding partners of ACAD9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ACAD9 as an antibody target. Whether an autoantibody or antibody against ACAD9 could matter depends on whether native ACAD9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACAD9 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 ACAD9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACAD9. 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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