MSMO1 (methylsterol monooxygenase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6307
Gene name Methylsterol monooxygenase 1
Gene symbol MSMO1
Synonyms (NCBI Gene)
DESP4ERG25MCCPDSC4MOL
Chromosome 4
Chromosome location 4q32.3
Summary 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 localiz
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs760048191 A>C,G Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs869025576 T>A Pathogenic Coding sequence variant, missense variant
rs869025577 G>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
243
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (243)
miRTarBase ID miRNA Experiments Reference
MIRT007120 hsa-miR-19a-3p Luciferase reporter assay 23451058
MIRT018951 hsa-miR-335-5p Microarray 18185580
MIRT030172 hsa-miR-26b-5p Microarray 19088304
MIRT051607 hsa-let-7e-5p CLASH 23622248
MIRT093443 hsa-miR-223-3p MicroarrayqRT-PCR 22815788
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0000254 Function C-4 methylsterol oxidase activity IBA
GO:0000254 Function C-4 methylsterol oxidase activity IEA
GO:0000254 Function C-4 methylsterol oxidase activity TAS 8663358
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607545 10545 ENSG00000052802
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15800
Protein name Methylsterol monooxygenase 1 (EC 1.14.18.9) (C-4 methylsterol oxidase) (Sterol-C4-methyl oxidase)
Protein function Catalyzes the three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol (PubMed:21285510, PubMed:23583456, PubMed:26114596, PubMed:28673550, PubMed:36
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04116 FA_hydroxylase 142 → 274 Fatty acid hydroxylase superfamily Family
Sequence 
MATNESVSIFSSASLAVEYVDSLLPENPLQEPFKNAWNYMLNNYTKFQIATWGSLIVHEA
LYFLFCLPGFLFQFIPYMKKYKIQKDKPETWENQWKCFKVLLFNHFCIQLPLICGTYYFT
EYFNIPYDWERMPRWYFLLARCFGCAVIEDTWHYFLHRLLHHKRIYKYIHKVHHEFQAPF
GMEAEYAHPLETLILGTGFFIGIVLLCDHVILLWAWVTIRLLETIDVHSGYDIPLNPLNL
IPFYAGSRHHDFHHMNFIGNYASTFTWWDRIFGTDSQYNAYNEKRKKFEKKTE
Sequence length 293
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Steroid biosynthesis
Metabolic pathways 		  Cholesterol biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome Pathogenic; Likely pathogenic rs869025576, rs760048191, rs869025577 RCV000208581
RCV000208576
RCV000208578
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs2118496 RCV005923157
Malignant lymphoma, large B-cell, diffuse Benign rs2118496 RCV005923155
MSMO1-related disorder Benign; Likely benign rs17585739, rs188890480, rs142496142 RCV003984001
RCV003912898
RCV003932910
Thymoma Benign rs2118496 RCV005923156
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthralgia Associate 21285510
Breast Neoplasms Stimulate 27246191
Cataract Associate 21285510
Developmental Disabilities Associate 21285510
Dyslipidemias Associate 22791750
Familial Primary Pulmonary Hypertension Associate 34722766
Genetic Diseases Inborn Associate 21285510
Insulin Resistance Associate 22791750
Leukemia Myeloid Acute Associate 38022627
Melanoma Inhibit 37481560