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Aliases for MSMO1 Gene

Aliases for MSMO1 Gene

  • Methylsterol Monooxygenase 1 2 3 5
  • C-4 Methylsterol Oxidase 3 4
  • SC4MOL 3 4
  • DESP4 3 4
  • ERG25 3 4
  • Sterol-C4-Methyl Oxidase-Like 2
  • EC 4
  • MCCPD 3

External Ids for MSMO1 Gene

Previous HGNC Symbols for MSMO1 Gene

  • SC4MOL

Previous GeneCards Identifiers for MSMO1 Gene

  • GC04P166249

Summaries for MSMO1 Gene

Entrez Gene Summary for MSMO1 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]

GeneCards Summary for MSMO1 Gene

MSMO1 (Methylsterol Monooxygenase 1) is a Protein Coding gene. Diseases associated with MSMO1 include Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis and Dermatitis. Among its related pathways are Terpenoid backbone biosynthesis and Metabolism. GO annotations related to this gene include oxidoreductase activity and C-4 methylsterol oxidase activity. An important paralog of this gene is FAXDC2.

UniProtKB/Swiss-Prot for MSMO1 Gene

  • Catalyzes the first step in the removal of the two C-4 methyl groups of 4,4-dimethylzymosterol.

Additional gene information for MSMO1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSMO1 Gene

Genomics for MSMO1 Gene

Regulatory Elements for MSMO1 Gene

Enhancers for MSMO1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H165255 1 Ensembl ENCODE 11.4 -71.7 -71732 1.8 HDGF SOX13 SAP130 CEBPG ZNF316 NFE2 IKZF2 TCF7L2 SOX5 NFIA KLHL2 TMEM192 MSMO1 RNU4-87P GK3P
GH04H165214 0.9 Ensembl ENCODE 10.8 -112.2 -112223 2 SMARCE1 FOXA2 JUN DPF2 ZFHX2 NFIC JUND SMARCA4 GLIS1 ZNF629 KLHL2 MSMO1 GC04P165222 TMEM192
GH04H165288 0.6 Ensembl 11.6 -38.9 -38855 0.7 CEBPB ZNF384 EP300 RAD21 NFIL3 ATF3 IKZF1 HNF4A TCF7L2 MSMO1 GC04M165293 GK3P
GH04H165132 0.5 Ensembl ENCODE 10.6 -194.2 -194201 0.9 KLHL2 TMEM192 MSMO1 TRIM75P
GH04H165410 0.3 FANTOM5 9.7 +82.7 82723 0.2 MSMO1 CPE FAM218A HADHAP1 GC04M165414
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MSMO1 on UCSC Golden Path with GeneCards custom track

Promoters for MSMO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000312971 577 3201 HDGF PKNOX1 MLX ARNT ARID4B DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Locations for MSMO1 Gene

Genomic Locations for MSMO1 Gene
15,542 bases
Plus strand

Genomic View for MSMO1 Gene

Genes around MSMO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSMO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MSMO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSMO1 Gene

Proteins for MSMO1 Gene

  • Protein details for MSMO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Methylsterol monooxygenase 1
    Protein Accession:
    Secondary Accessions:
    • A8K8Q3
    • A8MYF6
    • D3DP32
    • Q32Q24

    Protein attributes for MSMO1 Gene

    293 amino acids
    Molecular mass:
    35216 Da
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MSMO1 Gene


neXtProt entry for MSMO1 Gene

Post-translational modifications for MSMO1 Gene

  • Ubiquitination at Lys87 and posLast=284284
  • Modification sites at PhosphoSitePlus

Other Protein References for MSMO1 Gene

No data available for DME Specific Peptides for MSMO1 Gene

Domains & Families for MSMO1 Gene

Gene Families for MSMO1 Gene

Protein Domains for MSMO1 Gene


Suggested Antigen Peptide Sequences for MSMO1 Gene

Graphical View of Domain Structure for InterPro Entry



  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • Belongs to the sterol desaturase family.
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • Belongs to the sterol desaturase family.
genes like me logo Genes that share domains with MSMO1: view

Function for MSMO1 Gene

Molecular function for MSMO1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
4,4-dimethyl-5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O(2) = 4-beta-hydroxymethyl-4-alpha-methyl-5-alpha-cholest-7-en-3-beta-ol + NAD(P)(+) + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
4-beta-hydroxymethyl-4-alpha-methyl-5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O(2) = 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carbaldehyde + NAD(P)(+) + 2 H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carbaldehyde + NAD(P)H + O(2) = 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate + NAD(P)(+) + H(2)O.
UniProtKB/Swiss-Prot Function:
Catalyzes the first step in the removal of the two C-4 methyl groups of 4,4-dimethylzymosterol.

Enzyme Numbers (IUBMB) for MSMO1 Gene

Phenotypes From GWAS Catalog for MSMO1 Gene

Gene Ontology (GO) - Molecular Function for MSMO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000254 C-4 methylsterol oxidase activity TAS --
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with MSMO1: view
genes like me logo Genes that share phenotypes with MSMO1: view

Human Phenotype Ontology for MSMO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MSMO1 Gene

miRTarBase miRNAs that target MSMO1

Inhibitory RNA Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MSMO1 Gene

Localization for MSMO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MSMO1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MSMO1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for MSMO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum TAS 8663358
GO:0005789 endoplasmic reticulum membrane IBA,TAS --
GO:0005886 plasma membrane TAS 8663358
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MSMO1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MSMO1 Gene

Pathways & Interactions for MSMO1 Gene

genes like me logo Genes that share pathways with MSMO1: view

UniProtKB/Swiss-Prot Q15800-MSMO1_HUMAN

  • Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 3/6.

Gene Ontology (GO) - Biological Process for MSMO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process TAS 8663358
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0008202 steroid metabolic process TAS 8663358
genes like me logo Genes that share ontologies with MSMO1: view

No data available for SIGNOR curated interactions for MSMO1 Gene

Drugs & Compounds for MSMO1 Gene

(7) Drugs for MSMO1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Vet_approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(13) Additional Compounds for MSMO1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylic acid
  • 3b-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylic acid
  • 3beta-Hydroxy-4beta-methyl-5alpha-cholest-7-ene-4alpha-carboxylate
  • b-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylate
  • beta-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylate
  • (3beta,5alpha)-4,4-dimethylcholesta-8,24-dien-3-ol
  • 14-Demethyllanosterol
  • 4,4-Dimethyl-5 alpha -cholesta-8,24-dien-3 beta -ol
  • 4,4-Dimethyl-5-alpha-cholesta-(8,24)-dien-3-beta-ol
  • 4,4-Dimethyl-5-alpha-cholesta-8,24-dien-3-beta-ol
  • 4a-Carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol
  • 4alpha-carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol
genes like me logo Genes that share compounds with MSMO1: view

Transcripts for MSMO1 Gene

Unigene Clusters for MSMO1 Gene

Methylsterol monooxygenase 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MSMO1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c
SP1: - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - -

Relevant External Links for MSMO1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MSMO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MSMO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MSMO1 Gene

This gene is overexpressed in Liver (x7.0).

Protein differential expression in normal tissues from HIPED for MSMO1 Gene

This gene is overexpressed in Fetal ovary (20.0), Bone (16.5), and Fetal testis (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MSMO1 Gene

Protein tissue co-expression partners for MSMO1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MSMO1 Gene:


SOURCE GeneReport for Unigene cluster for MSMO1 Gene:


Evidence on tissue expression from TISSUES for MSMO1 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Eye(4.2)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with MSMO1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MSMO1 Gene

Orthologs for MSMO1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MSMO1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MSMO1 33 34
  • 99.66 (n)
(Canis familiaris)
Mammalia SC4MOL 34
  • 96 (a)
(Bos Taurus)
Mammalia SC4MOL 34
  • 95 (a)
MSMO1 33
  • 92.38 (n)
(Ornithorhynchus anatinus)
Mammalia MSMO1 34
  • 87 (a)
(Rattus norvegicus)
Mammalia Msmo1 33
  • 83.28 (n)
(Monodelphis domestica)
Mammalia MSMO1 34
  • 83 (a)
(Mus musculus)
Mammalia Sc4mol 33 34
  • 82.94 (n)
Msmo1 16
(Gallus gallus)
Aves MSMO1 33 34
  • 76.89 (n)
(Anolis carolinensis)
Reptilia MSMO1 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia msmo1 33
  • 73.95 (n)
(Danio rerio)
Actinopterygii msmo1 33 34
  • 72.03 (n)
wufb59g06 33
(Caenorhabditis elegans)
Secernentea F49E12.10 34
  • 24 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG25 36 34
  • 35 (a)
Species where no ortholog for MSMO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MSMO1 Gene

Gene Tree for MSMO1 (if available)
Gene Tree for MSMO1 (if available)

Paralogs for MSMO1 Gene

Paralogs for MSMO1 Gene Pseudogenes for MSMO1 Gene

genes like me logo Genes that share paralogs with MSMO1: view

Variants for MSMO1 Gene

Sequence variations from dbSNP and Humsavar for MSMO1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs760048191 Pathogenic, Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834] 165,341,795(+) TTTCT(A/G)TGCTG reference, missense
rs869025576 Pathogenic, Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834] 165,338,766(+) GTTCA(A/T)CATGA reference, missense
VAR_076531 Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834]
rs869025577 Pathogenic 165,341,800(+) ATGCT(C/G)GTTCT reference, missense
rs1000117378 -- 165,342,732(+) ATAGC(A/G)GTGAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MSMO1 Gene

Variant ID Type Subtype PubMed ID
nsv289926 CNV deletion 16902084

Variation tolerance for MSMO1 Gene

Residual Variation Intolerance Score: 70.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MSMO1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSMO1 Gene

Disorders for MSMO1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MSMO1 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly, congenital cataract, and psoriasiform dermatitis
  • microcephaly, congenital cataract and psoriasiform dermatitis
  • eczema
  • dermatomycoses
hypopharynx cancer
  • hypopharyngeal cancer
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search MSMO1 in MalaCards View complete list of genes associated with diseases


  • Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834]: An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. {ECO:0000269 PubMed:21285510, ECO:0000269 PubMed:24144731}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MSMO1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MSMO1: view

No data available for Genatlas for MSMO1 Gene

Publications for MSMO1 Gene

  1. Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue. (PMID: 8663358) Li L … Kaplan J (The Journal of biological chemistry 1996) 2 3 4 22 60
  2. The role of sterol-C4-methyl oxidase in epidermal biology. (PMID: 24144731) He M … Vockley J (Biochimica et biophysica acta 2014) 3 4 60
  3. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. (PMID: 21285510) He M … Vockley J (The Journal of clinical investigation 2011) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for MSMO1 Gene

Sources for MSMO1 Gene

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