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Aliases for MSMO1 Gene

Aliases for MSMO1 Gene

  • Methylsterol Monooxygenase 1 2 3 3 5
  • C-4 Methylsterol Oxidase 3 4
  • SC4MOL 3 4
  • DESP4 3 4
  • ERG25 3 4
  • Sterol-C4-Methyl Oxidase-Like 2
  • EC 1.14.18.9 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 cholesterol biosynthesis III (via desmosterol) and Terpenoid backbone biosynthesis. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and C-4 methylsterol oxidase activity. An important paralog of this gene is CH25H.

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

GeneHancer (GH) Regulatory Elements for MSMO1 Gene

Promoters and enhancers for MSMO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J165323 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 -0.5 -520 8.1 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 MSMO1 KLHL2 TMEM192 NACA3P CPE GC04M165293
GH04J165255 Enhancer 0.9 Ensembl ENCODE 11.4 -71.7 -71731 1.8 HDGF SOX13 SMAD1 SAP130 PAX8 CEBPG ZNF316 NFE2 IKZF2 MAFK KLHL2 TMEM192 MSMO1 RNU4-87P GK3P
GH04J165214 Enhancer 0.8 Ensembl ENCODE 10.8 -112.2 -112222 2 SMARCE1 MEIS2 FOXA2 JUN MEF2B DPF2 ZFHX2 JUND NFIC SMARCA4 KLHL2 MSMO1 TMEM192 GC04P165222
GH04J165288 Enhancer 0.6 Ensembl 11.6 -38.9 -38855 0.7 RXRA CEBPB ZNF384 EP300 RAD21 NFIL3 ATF3 IKZF1 HNF4A TCF7L2 MSMO1 GC04M165293 GK3P KLHL2
GH04J165132 Enhancer 0.4 Ensembl ENCODE 10.6 -194.2 -194200 0.9 KLHL2 TMEM192 MSMO1 TRIM75P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MSMO1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MSMO1 Gene

Genomic Locations for MSMO1 Gene
chr4:165,327,623-165,343,164
(GRCh38/hg38)
Size:
15,542 bases
Orientation:
Plus strand
chr4:166,248,775-166,264,312
(GRCh37/hg19)
Size:
15,538 bases
Orientation:
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:
    Q15800-MSMO1_HUMAN
    Recommended name:
    Methylsterol monooxygenase 1
    Protein Accession:
    Q15800
    Secondary Accessions:
    • A8K8Q3
    • A8MYF6
    • D3DP32
    • Q32Q24

    Protein attributes for MSMO1 Gene

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

    Alternative splice isoforms for MSMO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MSMO1 Gene

Post-translational modifications for MSMO1 Gene

  • Ubiquitination at Lys284 and Lys87
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for MSMO1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MSMO1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15800

UniProtKB/Swiss-Prot:

MSMO1_HUMAN :
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • Belongs to the sterol desaturase family.
Domain:
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
Family:
  • 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 Function:
Catalyzes the first step in the removal of the two C-4 methyl groups of 4,4-dimethylzymosterol.
UniProtKB/Swiss-Prot CatalyticActivity:
4,4-dimethyl-5-alpha-cholest-7-en-3-beta-ol + 6 ferrocytochrome b5 + 3 O(2) + 6 H(+) = 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate + 6 ferricytochrome b5 + 4 H(2)O.

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,IBA --
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

  • Taconic Biosciences Mouse Models for MSMO1

CRISPR Products

miRNA for MSMO1 Gene

miRTarBase miRNAs that target MSMO1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSMO1

Clone Products

  • Addgene plasmids for MSMO1

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

COMPARTMENTS
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 IBA,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 IBA,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
NADH Approved Nutra Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
NAD Pharma Full agonist, Agonist, Activator 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-carbaldehyde
3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate
  • 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
4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol
  • (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
7448-02-4
4,4-Dimethyl-5-alpha-cholest-7-en-3-beta-ol
  • 4,4-Dimethyl-5 alpha-cholest-7-ene-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
  • 4α-carboxy-4β-methyl-5α-cholesta-8,24-dien-3β-ol
genes like me logo Genes that share compounds with MSMO1: view

Transcripts for MSMO1 Gene

mRNA/cDNA for MSMO1 Gene

Unigene Clusters for MSMO1 Gene

Methylsterol monooxygenase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSMO1

Clone Products

  • Addgene plasmids for MSMO1

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: - - -
SP5:
SP6:

Relevant External Links for MSMO1 Gene

GeneLoc Exon Structure for
MSMO1
ECgene alternative splicing isoforms for
MSMO1

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, MaxQB, and MOPED for MSMO1 Gene



Protein tissue co-expression partners for MSMO1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MSMO1 Gene:

MSMO1

SOURCE GeneReport for Unigene cluster for MSMO1 Gene:

Hs.105269

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
chimpanzee
(Pan troglodytes)
Mammalia MSMO1 34 33
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SC4MOL 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SC4MOL 34
  • 95 (a)
OneToOne
MSMO1 33
  • 92.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MSMO1 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Msmo1 33
  • 83.28 (n)
oppossum
(Monodelphis domestica)
Mammalia MSMO1 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sc4mol 34 33
  • 82.94 (n)
OneToOne
Msmo1 16
chicken
(Gallus gallus)
Aves MSMO1 34 33
  • 76.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MSMO1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msmo1 33
  • 73.95 (n)
zebrafish
(Danio rerio)
Actinopterygii msmo1 34 33
  • 72.03 (n)
OneToOne
wufb59g06 33
worm
(Caenorhabditis elegans)
Secernentea F49E12.10 34
  • 24 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for MSMO1 (if available)
TreeFam:
Gene Tree for MSMO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MSMO1: view image

Paralogs for MSMO1 Gene

Paralogs for MSMO1 Gene

Pseudogenes.org 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 Variation AA Info Type
rs760048191 pathogenic, Microcephaly, congenital cataract, and psoriasiform dermatitis, Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834] 165,341,795(+) A/G coding_sequence_variant, missense_variant
rs869025576 pathogenic, Microcephaly, congenital cataract, and psoriasiform dermatitis, Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834] 165,338,766(+) T/A coding_sequence_variant, missense_variant
rs869025577 pathogenic, Microcephaly, congenital cataract, and psoriasiform dermatitis 165,341,800(+) G/C coding_sequence_variant, missense_variant
VAR_076531 Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834] p.Gly115Arg
rs1000117378 -- 165,342,732(+) A/C/G 3_prime_UTR_variant

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)

Additional Variant Information for MSMO1 Gene

Human Gene Mutation Database (HGMD)
MSMO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MSMO1

SNP Genotyping and Copy Number Assay Products

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

Disorders for MSMO1 Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

MSMO1_HUMAN
  • 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.

Additional Disease Information for MSMO1

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 58
  2. The role of sterol-C4-methyl oxidase in epidermal biology. (PMID: 24144731) He M … Vockley J (Biochimica et biophysica acta 2014) 3 4 58
  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 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MSMO1 Gene

Sources for MSMO1 Gene

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