Seroatlas · Human Serome Atlas

LSS

Lanosterol synthase

Also known as: LSS_HUMAN, OSC

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

Protein identityUniProt · HPA

UniProt accession
P48449
Gene
LSS
Ensembl
ENSG00000160285
Chromosome
21
Canonical length
732 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]

Canonical amino-acid sequenceUniProt

732 residues, UniProt reviewed canonical sequence.

>P48449|LSS
     1  MTEGTCLRRR GGPYKTEPAT DLGRWRLNCE RGRQTWTYLQ DERAGREQTG LEAYALGLDT
    61  KNYFKDLPKA HTAFEGALNG MTFYVGLQAE DGHWTGDYGG PLFLLPGLLI TCHVARIPLP
   121  AGYREEIVRY LRSVQLPDGG WGLHIEDKST VFGTALNYVS LRILGVGPDD PDLVRARNIL
   181  HKKGGAVAIP SWGKFWLAVL NVYSWEGLNT LFPEMWLFPD WAPAHPSTLW CHCRQVYLPM
   241  SYCYAVRLSA AEDPLVQSLR QELYVEDFAS IDWLAQRNNV APDELYTPHS WLLRVVYALL
   301  NLYEHHHSAH LRQRAVQKLY EHIVADDRFT KSISIGPISK TINMLVRWYV DGPASTAFQE
   361  HVSRIPDYLW MGLDGMKMQG TNGSQIWDTA FAIQALLEAG GHHRPEFSSC LQKAHEFLRL
   421  SQVPDNPPDY QKYYRQMRKG GFSFSTLDCG WIVSDCTAEA LKAVLLLQEK CPHVTEHIPR
   481  ERLCDAVAVL LNMRNPDGGF ATYETKRGGH LLELLNPSEV FGDIMIDYTY VECTSAVMQA
   541  LKYFHKRFPE HRAAEIRETL TQGLEFCRRQ QRADGSWEGS WGVCFTYGTW FGLEAFACMG
   601  QTYRDGTACA EVSRACDFLL SRQMADGGWG EDFESCEERR YLQSAQSQIH NTCWAMMGLM
   661  AVRHPDIEAQ ERGVRCLLEK QLPNGDWPQE NIAGVFNKSC AISYTSYRNI FPIWALGRFS
   721  QLYPERALAG HP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LSS 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)
0.18
Highest tissue expression
56 nTPM

Expression across tissuesHPA

Tissue

  • liver: 56 nTPM
  • spinal cord: 52 nTPM
  • esophagus: 38 nTPM
  • adrenal gland: 37 nTPM
  • ovary: 29 nTPM
  • midbrain: 29 nTPM

Single-cell type

  • oligodendrocytes: 190 nCPM
  • retinal ganglion cells: 155 nCPM
  • astrocytes: 75 nCPM
  • other brain neurons: 61 nCPM
  • bergmann glia: 59 nCPM
  • brain inhibitory neurons: 42 nCPM

Immune cell

  • plasmacytoid DC: 5 nTPM
  • memory CD8 T-cell: 4.9 nTPM
  • basophil: 4.7 nTPM
  • gdT-cell: 4 nTPM
  • naive CD8 T-cell: 3.6 nTPM
  • total PBMC: 3.6 nTPM

Brain region

  • pons: 164 nTPM
  • medulla oblongata: 159 nTPM
  • white matter: 144 nTPM
  • midbrain: 115 nTPM
  • thalamus: 112 nTPM
  • cerebral cortex: 111 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LSS.

Disease | AllUniProt

Conditions LSS is implicated in, by any mechanism.

Disease | GeneticClinVar

36 pathogenic / likely-pathogenic of 401 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)
0.6
gnomAD pLI
0
gnomAD missense Z
0.66
DepMap mean gene effect
-0.06
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

  • lanosterol synthase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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