Seroatlas · Human Serome Atlas

CYP46A1

Cholesterol 24-hydroxylase

Also known as: CP46A_HUMAN, CYP46

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

Protein identityUniProt · HPA

UniProt accession
Q9Y6A2
Gene
CYP46A1
Ensembl
ENSG00000036530
Chromosome
14
Canonical length
500 aa
Protein class
Enzymes, Metabolic proteins, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

500 residues, UniProt reviewed canonical sequence.

>Q9Y6A2|CYP46A1
     1  MSPGLLLLGS AVLLAFGLCC TFVHRARSRY EHIPGPPRPS FLLGHLPCFW KKDEVGGRVL
    61  QDVFLDWAKK YGPVVRVNVF HKTSVIVTSP ESVKKFLMST KYNKDSKMYR ALQTVFGERL
   121  FGQGLVSECN YERWHKQRRV IDLAFSRSSL VSLMETFNEK AEQLVEILEA KADGQTPVSM
   181  QDMLTYTAMD ILAKAAFGME TSMLLGAQKP LSQAVKLMLE GITASRNTLA KFLPGKRKQL
   241  REVRESIRFL RQVGRDWVQR RREALKRGEE VPADILTQIL KAEEGAQDDE GLLDNFVTFF
   301  IAGHETSANH LAFTVMELSR QPEIVARLQA EVDEVIGSKR YLDFEDLGRL QYLSQVLKES
   361  LRLYPPAWGT FRLLEEETLI DGVRVPGNTP LLFSTYVMGR MDTYFEDPLT FNPDRFGPGA
   421  PKPRFTYFPF SLGHRSCIGQ QFAQMEVKVV MAKLLQRLEF RLVPGQRFGL QEQATLKPLD
   481  PVLCTLRPRG WQPAPPPPPC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP46A1 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
1
Mean surface accessibility (rSASA)
0.24
Highest tissue expression
159 nTPM

Expression across tissuesHPA

Tissue

  • basal ganglia: 159 nTPM
  • cerebral cortex: 88 nTPM
  • hippocampal formation: 61 nTPM
  • amygdala: 53 nTPM
  • hypothalamus: 37 nTPM
  • midbrain: 26 nTPM

Single-cell type

  • somatotrophs: 163 nCPM
  • brain inhibitory neurons: 135 nCPM
  • thyrotrophs: 102 nCPM
  • pdcs: 96 nCPM
  • cone photoreceptor cells: 95 nCPM
  • astrocytes: 89 nCPM

Immune cell

  • plasmacytoid DC: 3.4 nTPM
  • memory CD8 T-cell: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • basal ganglia: 183 nTPM
  • cerebral cortex: 99 nTPM
  • hippocampal formation: 92 nTPM
  • amygdala: 74 nTPM
  • thalamus: 63 nTPM
  • white matter: 62 nTPM

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)
0.3
gnomAD pLI
0.99
gnomAD missense Z
2.97
DepMap mean gene effect
0.12
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 CYP46A1 as an antibody target. Whether an autoantibody or antibody against CYP46A1 could matter depends on whether native CYP46A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CYP46A1 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 CYP46A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CYP46A1. 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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