MSMO1

Protein-coding gene in the species Homo sapiens
MSMO1
Identifiers
AliasesMSMO1, DESP4, ERG25, SC4MOL, MCCPD, methylsterol monooxygenase 1
External IDsOMIM: 607545; MGI: 1913484; HomoloGene: 133932; GeneCards: MSMO1; OMA:MSMO1 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for MSMO1
Genomic location for MSMO1
Band4q32.3Start165,327,667 bp[1]
End165,343,164 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for MSMO1
Genomic location for MSMO1
Band8|8 B3.1Start65,171,173 bp[2]
End65,186,826 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • skin of thigh

  • vulva

  • retinal pigment epithelium

  • ganglionic eminence

  • ventricular zone

  • bronchial epithelial cell

  • jejunal mucosa

  • optic nerve

  • liver

  • right lobe of liver
Top expressed in
  • skin of external ear

  • sciatic nerve

  • lip

  • ventral tegmental area

  • transitional epithelium of urinary bladder

  • dorsal tegmental nucleus

  • medial vestibular nucleus

  • left lobe of liver

  • migratory enteric neural crest cell

  • cumulus cell
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • iron ion binding
  • oxidoreductase activity
  • C-4 methylsterol oxidase activity
Cellular component
  • integral component of membrane
  • plasma membrane
  • endoplasmic reticulum
  • membrane
  • endoplasmic reticulum membrane
Biological process
  • cholesterol biosynthetic process
  • steroid metabolic process
  • fatty acid metabolic process
  • lipid metabolism
  • steroid biosynthetic process
  • sterol biosynthetic process
  • lipid biosynthetic process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6307

66234

Ensembl

ENSG00000052802

ENSMUSG00000031604

UniProt

Q15800

Q9CRA4

RefSeq (mRNA)

NM_001017369
NM_006745

NM_025436

RefSeq (protein)

NP_001017369
NP_006736

NP_079712

Location (UCSC)Chr 4: 165.33 – 165.34 MbChr 8: 65.17 – 65.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Methylsterol monooxygenase 1 is a protein that in humans is encoded by the MSMO1 gene. [5]

Function

Sterol-C4-methyl 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.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000052802 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031604 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Methylsterol monooxygenase 1". Retrieved 2017-05-24.

Further reading

  • Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM (2008). "Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations". J. Lipid Res. 49 (12): 2582–9. doi:10.1194/jlr.M800232-JLR200. PMID 18660489.
  • He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J (2011). "Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay". J. Clin. Invest. 121 (3): 976–84. doi:10.1172/JCI42650. PMC 3049385. PMID 21285510.
  • Chen G, Bentley A, Adeyemo A, Shriner D, Zhou J, Doumatey A, Huang H, Ramos E, Erdos M, Gerry N, Herbert A, Christman M, Rotimi C (2012). "Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans". Hum. Mol. Genet. 21 (20): 4530–6. doi:10.1093/hmg/dds282. PMC 3459464. PMID 22791750.


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This article incorporates text from the United States National Library of Medicine, which is in the public domain.