MSMO1

MSMO1
Identifiers
Aliases	MSMO1 , DESP4, ERG25, SC4MOL, MCCPD, methylsterol monooxygenase 1
External IDs	OMIM: 607545 MGI: 1913484 HomoloGene: 133932 GeneCards: MSMO1
Gene location (Human)
Chr.	Chromosome 4 (human)
End	165,343,164 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	65,186,826 bp
RNA expression pattern
	Top expressed in
	testicle; ; liver; ; zone of skin; ; vulva; ; prosencephalon; ; retinal pigment epithelium; ; ovary;
	More reference expression data
	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
	6307
	66234
	ENSG00000052802
	ENSMUSG00000031604
	Q15800
	Q9CRA4
	NM_001017369 ; NM_006745
	NM_025436
	NP_001017369 ; NP_006736
	NP_079712
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated April 14, 2022

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.

Related Research Articles

Squalene monooxygenase is a eukaryotic enzyme that uses NADPH and diatomic oxygen to oxidize squalene to 2,3-oxidosqualene. Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. In humans, squalene epoxidase is encoded by the SQLE gene. Several eukaryote genomes lack a squalene monooxygenase encoding gene, but instead encode an alternative squalene epoxidase that preforms the same task.

Sterol regulatory element-binding protein cleavage-activating protein, also known as SREBP cleavage-activating protein or SCAP is a protein that in humans is encoded by the SCAP gene.

Sterol regulatory element-binding transcription factor 1 (SREBF1) also known as sterol regulatory element-binding protein 1 (SREBP-1) is a protein that in humans is encoded by the SREBF1 gene.

Sterol regulatory element-binding protein 2 (SREBP-2) also known as sterol regulatory element binding transcription factor 2 (SREBF2) is a protein that in humans is encoded by the SREBF2 gene.

Membrane-bound transcription factor site-1 protease, or site-1 protease (S1P) for short, also known as subtilisin/kexin-isozyme 1 (SKI-1), is an enzyme that in humans is encoded by the MBTPS1 gene. S1P cleaves the endoplasmic reticulum loop of sterol regulatory element-binding protein (SREBP) transcription factors.

ATP-binding cassette sub-family G member 5 is a protein that in humans is encoded by the ABCG5 gene.

Sterol O-acyltransferase 1, also known as SOAT1, is an enzyme that in humans is encoded by the SOAT1 gene.

Insulin induced gene 1, also known as INSIG1, is a protein which in humans is encoded by the INSIG1 gene.

Sterol O-acyltransferase 2, also known as SOAT2, is an enzyme that in humans is encoded by the SOAT2 gene.

ATP-binding cassette sub-family G member 8 is a protein that in humans is encoded by the ABCG8 gene.

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene. This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis.

Lathosterol oxidase is an enzyme that in humans is encoded by the SC5DL gene.

Insulin induced gene 2, also known as INSIG2, is a protein which in humans is encoded by the INSIG2 gene.

StAR-related lipid transfer protein 5 is a protein that in humans is encoded by the STARD5 gene. The protein is a 213 amino acids long, consisting almost entirely of a StAR-related transfer (START) domain. It is also part of the StarD4 subfamily of START domain proteins, sharing 34% sequence identity with STARD4.

ATP-binding cassette sub-family G member 4 is a protein that in humans is encoded by the ABCG4 gene.

CYP39A1 also known as oxysterol 7-α-hydroxylase 2 is a protein that in humans is encoded by the CYP39A1 gene.

CYP8B1 also known as sterol 12-alpha-hydroxylase is a protein which in humans is encoded by the CYP8B1 gene.

StAR-related lipid transfer protein 4 (STARD4) is a soluble protein involved in cholesterol transport. It can transfer up to 7 sterol molecules per minute between artificial membranes.

Diacylglycerol O-acyltransferase 2 (DGAT2) is a protein that in humans is encoded by the DGAT2 gene.

COX18, cytochrome c oxidase assembly factor is a protein that in humans is encoded by the COX18 gene.

References

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

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.

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it.

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

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000052802 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] "Entrez Gene: Methylsterol monooxygenase 1" . Retrieved 2017-05-24.

[1]

[2]

[3]

[4]

[5]

MSMO1

Contents

Function

Related Research Articles

References

Further reading