Seroatlas · Human Serome Atlas

MSMO1

Methylsterol monooxygenase 1

Also known as: DESP4, ERG25, MSMO1_HUMAN, SC4MOL

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

Protein identityUniProt · HPA

UniProt accession: Q15800
Gene: MSMO1
Ensembl: ENSG00000052802
Chromosome: 4
Canonical length: 293 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
Subcellular location: Endoplasmic reticulum

OverviewNCBI Gene

Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

293 residues, UniProt reviewed canonical sequence.

>Q15800|MSMO1
     1  MATNESVSIF SSASLAVEYV DSLLPENPLQ EPFKNAWNYM LNNYTKFQIA TWGSLIVHEA
    61  LYFLFCLPGF LFQFIPYMKK YKIQKDKPET WENQWKCFKV LLFNHFCIQL PLICGTYYFT
   121  EYFNIPYDWE RMPRWYFLLA RCFGCAVIED TWHYFLHRLL HHKRIYKYIH KVHHEFQAPF
   181  GMEAEYAHPL ETLILGTGFF IGIVLLCDHV ILLWAWVTIR LLETIDVHSG YDIPLNPLNL
   241  IPFYAGSRHH DFHHMNFIGN YASTFTWWDR IFGTDSQYNA YNEKRKKFEK KTE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MSMO1 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: 3
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 538 nTPM

Expression across tissuesHPA

Tissue

liver: 538 nTPM
esophagus: 140 nTPM
spinal cord: 108 nTPM
adrenal gland: 93 nTPM
epididymis: 92 nTPM
cerebral cortex: 80 nTPM

Single-cell type

epididymal principal cells: 1,438 nCPM
esophageal apical cells: 981 nCPM
breast lactating cells: 817 nCPM
alveolar cells type 2: 526 nCPM
esophageal suprabasal cells: 428 nCPM
urothelial cells: 413 nCPM

Immune cell

memory B-cell: 41 nTPM
naive B-cell: 38 nTPM
naive CD8 T-cell: 36 nTPM
naive CD4 T-cell: 34 nTPM
gdT-cell: 34 nTPM
memory CD4 T-cell: 32 nTPM

Brain region

medulla oblongata: 173 nTPM
pons: 143 nTPM
white matter: 106 nTPM
hypothalamus: 105 nTPM
midbrain: 103 nTPM
thalamus: 81 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MSMO1.

Disease | AllUniProt

Conditions MSMO1 is implicated in, by any mechanism.

Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) MIM:616834

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 92 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Inborn genetic diseases

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): 0.7
gnomAD pLI: 0.09
gnomAD missense Z: 0.59
DepMap mean gene effect: 0.09
DepMap dependency class: selective

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

InteractionsUniProt · HPA

Protein binding partners of MSMO1 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 MSMO1 as an antibody target. Whether an autoantibody or antibody against MSMO1 could matter depends on whether native MSMO1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MSMO1 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 MSMO1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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