MSMO1 (methylsterol monooxygenase 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6307
Gene name Gene Name - the full gene name approved by the HGNC.
Methylsterol monooxygenase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MSMO1
Synonyms (NCBI Gene) Gene synonyms aliases
DESP4, ERG25, MCCPD, SC4MOL
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MCCPD
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q32.3
Summary Summary of gene provided in NCBI Entrez 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 localiz
SNPs SNP information provided by dbSNP.
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.
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 Microarray, qRT-PCR 22815788
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0000254 Function C-4 methylsterol oxidase activity IBA 21873635
GO:0000254 Function C-4 methylsterol oxidase activity TAS
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum TAS 8663358
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607545 10545 ENSG00000052802
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Ichthyosis Ichthyoses rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Mental retardation Mild Mental Retardation rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Show/Hide Text Mining Associations (16)
Associations from Text Mining
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