Seroatlas · Human Serome Atlas

ACAT1

Acetyl-CoA acetyltransferase, mitochondrial

Also known as: ACAT, THIL, THIL_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P24752
Gene
ACAT1
Ensembl
ENSG00000075239
Chromosome
11
Canonical length
427 aa
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location
Mitochondria
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]

Canonical amino-acid sequenceUniProt

427 residues, UniProt reviewed canonical sequence.

>P24752|ACAT1
     1  MAVLAALLRS GARSRSPLLR RLVQEIRYVE RSYVSKPTLK EVVIVSATRT PIGSFLGSLS
    61  LLPATKLGSI AIQGAIEKAG IPKEEVKEAY MGNVLQGGEG QAPTRQAVLG AGLPISTPCT
   121  TINKVCASGM KAIMMASQSL MCGHQDVMVA GGMESMSNVP YVMNRGSTPY GGVKLEDLIV
   181  KDGLTDVYNK IHMGSCAENT AKKLNIARNE QDAYAINSYT RSKAAWEAGK FGNEVIPVTV
   241  TVKGQPDVVV KEDEEYKRVD FSKVPKLKTV FQKENGTVTA ANASTLNDGA AALVLMTADA
   301  AKRLNVTPLA RIVAFADAAV EPIDFPIAPV YAASMVLKDV GLKKEDIAMW EVNEAFSLVV
   361  LANIKMLEID PQKVNINGGA VSLGHPIGMS GARIVGHLTH ALKQGEYGLA SICNGGGGAS
   421  AMLIQKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACAT1 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)
0.25
Highest tissue expression
906 nTPM

Expression across tissuesHPA

Tissue

  • liver: 906 nTPM
  • kidney: 581 nTPM
  • skeletal muscle: 435 nTPM
  • tongue: 384 nTPM
  • heart muscle: 299 nTPM
  • choroid plexus: 275 nTPM

Single-cell type

  • hepatocytes: 805 nCPM
  • parietal cells: 484 nCPM
  • early spermatids: 444 nCPM
  • late primary spermatocytes: 404 nCPM
  • myonuclei: 275 nCPM
  • epididymal clear cells: 263 nCPM

Immune cell

  • T-reg: 36 nTPM
  • myeloid DC: 34 nTPM
  • MAIT T-cell: 30 nTPM
  • memory CD8 T-cell: 30 nTPM
  • memory B-cell: 29 nTPM
  • memory CD4 T-cell: 29 nTPM

Brain region

  • choroid plexus: 124 nTPM
  • cerebellum: 29 nTPM
  • white matter: 29 nTPM
  • spinal cord: 29 nTPM
  • hypothalamus: 28 nTPM
  • thalamus: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACAT1.

Disease | AllUniProt

Conditions ACAT1 is implicated in, by any mechanism.

Disease | GeneticClinVar

213 pathogenic / likely-pathogenic of 808 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)
1.05
gnomAD pLI
0
gnomAD missense Z
0.91
DepMap mean gene effect
0.05
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 ACAT1 as an antibody target. Whether an autoantibody or antibody against ACAT1 could matter depends on whether native ACAT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACAT1 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 ACAT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACAT1. 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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