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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 1.14.13.72 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 msmo1-related psoriasiform dermatitis and dermatomycosis. Among its related pathways are Metabolism and Terpenoid backbone biosynthesis. 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.

No data available for 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

Promoters for MSMO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MSMO1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MSMO1 Gene

Chromosome:
4
Start:
165,327,623 bp from pter
End:
165,343,164 bp from pter
Size:
15,542 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

Proteomics data for MSMO1 Gene at MOPED

Post-translational modifications for MSMO1 Gene

  • Ubiquitination at Lys 87 and Lys 284
  • Modification sites at PhosphoSitePlus

Other Protein References for MSMO1 Gene

Antibody Products

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

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 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

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

Animal Models for MSMO1 Gene

MGI Knock Outs for MSMO1:

Animal Model Products

  • Taconic Biosciences Mouse Models for MSMO1

miRNA for MSMO1 Gene

miRTarBase miRNAs that target MSMO1

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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
Jensen Localization Image for MSMO1 Gene 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:0005886 plasma membrane TAS 8663358
genes like me logo Genes that share ontologies with MSMO1: view

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:0006695 cholesterol biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(16) 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
4a-Carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-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:

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 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, MOPED, and MaxQB for MSMO1 Gene



SOURCE GeneReport for Unigene cluster for MSMO1 Gene Hs.105269

genes like me logo Genes that share expression patterns with MSMO1: view

Protein tissue co-expression partners for MSMO1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia MSMO1 35
  • 92.38 (n)
  • 95.22 (a)
SC4MOL 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sc4mol 35
  • 82.94 (n)
  • 89.08 (a)
Msmo1 16
Sc4mol 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MSMO1 35
  • 99.66 (n)
  • 100 (a)
MSMO1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Msmo1 35
  • 83.28 (n)
  • 88.74 (a)
dog
(Canis familiaris)
Mammalia SC4MOL 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MSMO1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MSMO1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves MSMO1 35
  • 76.89 (n)
  • 83.97 (a)
MSMO1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MSMO1 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msmo1 35
  • 73.95 (n)
  • 78.5 (a)
zebrafish
(Danio rerio)
Actinopterygii msmo1 35
  • 72.03 (n)
  • 80.07 (a)
wufb59g06 35
msmo1 36
  • 79 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F49E12.10 36
  • 24 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG25 36
  • 35 (a)
OneToMany
ERG25 38
Species with no ortholog for MSMO1:
  • 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)

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 Sequence Context AA Info Type
rs34499452 - 165,337,904(-) GAATA(C/T)TGAAA reference, missense, utr-variant-5-prime
rs8733 -- 165,342,967(+) TTTGT(A/G/T)TATCA utr-variant-3-prime
rs13918 -- 165,342,767(+) AAGCC(A/G)GCACC utr-variant-3-prime
rs756090 -- 165,337,089(+) TTTGT(A/T)AAGCC intron-variant
rs934815 -- 165,330,728(+) GAGAC(C/G)GAGTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv289926 CNV Loss 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

HapMap Linkage Disequilibrium report
MSMO1
Human Gene Mutation Database (HGMD)
MSMO1

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

Disorders for MSMO1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MSMO1 Gene - From: GeneTests and DISEASES

Disorder Aliases PubMed IDs
msmo1-related psoriasiform dermatitis
dermatomycosis
  • dermatomycoses
hypopharynx cancer
  • hypopharyngeal cancer
- elite association - COSMIC cancer census association via MalaCards
Search MSMO1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MSMO1

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

No data available for UniProtKB/Swiss-Prot and 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. (J. Biol. Chem. 1996) 2 3 4 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. The role of sterol-C4-methyl oxidase in epidermal biology. (PMID: 24144731) He M. … Vockley J. (Biochim. Biophys. Acta 2014) 3
  4. Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans. (PMID: 22791750) Chen G. … Rotimi C. (Hum. Mol. Genet. 2012) 3
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3

Products for MSMO1 Gene

Sources for MSMO1 Gene

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