Seroatlas · Human Serome Atlas

SC5D

Lathosterol oxidase

Also known as: SC5D_HUMAN, SC5DL

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

Protein identityUniProt · HPA

UniProt accession
O75845
Gene
SC5D
Ensembl
ENSG00000109929
Chromosome
11
Canonical length
299 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
Subcellular location
Nucleoplasm,Endoplasmic reticulum,Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

299 residues, UniProt reviewed canonical sequence.

>O75845|SC5D
     1  MDLVLRVADY YFFTPYVYPA TWPEDDIFRQ AISLLIVTNV GAYILYFFCA TLSYYFVFDH
    61  ALMKHPQFLK NQVRREIKFT VQALPWISIL TVALFLLEIR GYSKLHDDLG EFPYGLFELV
   121  VSIISFLFFT DMFIYWIHRG LHHRLVYKRL HKPHHIWKIP TPFASHAFHP IDGFLQSLPY
   181  HIYPFIFPLH KVVYLSLYIL VNIWTISIHD GDFRVPQILQ PFINGSAHHT DHHMFFDYNY
   241  GQYFTLWDRI GGSFKNPSSF EGKGPLSYVK EMTEGKRSSH SGNGCKNEKL FNGEFTKTE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SC5D 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
4
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
368 nTPM

Expression across tissuesHPA

Tissue

  • liver: 368 nTPM
  • prostate: 95 nTPM
  • spinal cord: 75 nTPM
  • epididymis: 69 nTPM
  • cerebral cortex: 55 nTPM
  • seminal vesicle: 53 nTPM

Single-cell type

  • hepatocytes: 180 nCPM
  • epididymal principal cells: 178 nCPM
  • esophageal apical cells: 168 nCPM
  • urothelial cells: 130 nCPM
  • respiratory ionocytes: 130 nCPM
  • esophageal suprabasal cells: 122 nCPM

Immune cell

  • basophil: 7.8 nTPM
  • plasmacytoid DC: 7.7 nTPM
  • naive CD4 T-cell: 6.8 nTPM
  • naive CD8 T-cell: 6.7 nTPM
  • myeloid DC: 6.5 nTPM
  • MAIT T-cell: 6 nTPM

Brain region

  • medulla oblongata: 95 nTPM
  • pons: 86 nTPM
  • cerebellum: 81 nTPM
  • white matter: 80 nTPM
  • spinal cord: 71 nTPM
  • hypothalamus: 67 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SC5D.

Disease | AllUniProt

Conditions SC5D is implicated in, by any mechanism.

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 231 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)
0.97
gnomAD pLI
0
gnomAD missense Z
0.72
DepMap mean gene effect
0.01
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SC5D as an antibody target. Whether an autoantibody or antibody against SC5D could matter depends on whether native SC5D is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SC5D 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 SC5D as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SC5D. 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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