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methylsterol monooxygenase 1

Summary

Gene Symbol

MSMO1

Aliases

DESP4
ERG25

Organism

Homo sapiens (human)

External Links

NCBI Gene

6307

HGNC

10545

KEGG Gene ID

hsa:6307

PubChem

6307

Alliance of Genome Resources

HGNC:10545

Annotation

Keyword

Alternative splicing
Cataract
Cholesterol biosynthesis
Disease variant
Endoplasmic reticulum
Iron
NAD
Oxidoreductase
Reference proteome
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q15800	C-4 methylsterol oxidase Sterol-C4-methyl oxidase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
cholesterol biosynthetic process	IEA TAS
fatty acid metabolic process		8663358
sterol biosynthetic process	IBA
steroid metabolic process		8663358

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

lipid metabolic process [inference]

steroid metabolic process

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

organic cyclic compound metabolic process [inference]

steroid metabolic process

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

Displaying **all 4** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum		8663358
endoplasmic reticulum membrane	IBA TAS
plasma membrane		8663358
membrane		8663358

GO Hierarchy

cellular component

cellular anatomical entity [inference]

plasma membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

Displaying **all 3** entries
GO Term	Evidence Code	PMID
C-4 methylsterol oxidase activity	IBA TAS
iron ion binding	IEA
protein binding	IPI	32296183

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

monooxygenase activity [inference]

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen [inference]

C-4 methylsterol oxidase activity

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [inference]

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen [inference]

C-4 methylsterol oxidase activity

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

iron ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000052802

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K07750

Name

methylsterol monooxygenase [EC:1.14.18.9]

References

Rhea

H⁺ + O₂ + 4,4-dimethyl-5α-cholest-7-en-3β-ol

H₂O + 4α-carboxy-4β-methyl-5α-cholest-7-ene-3β-ol

Enzyme

1.14.18.9

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 18 in total

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2

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DO ID	Disease Name	Source
DOID:0060250	idiopathic scoliosis	DisGeNET
DOID:10907	microcephaly	DisGeNET
DOID:162	cancer	DisGeNET DisGeNET DisGeNET
DOID:1697	ichthyosis	DisGeNET
DOID:2581	chondrodysplasia punctata	Alliance of Genome Resources
DOID:37	skin disease	DisGeNET
DOID:4398	pustulosis of palm and sole	DisGeNET
DOID:4480	achondroplasia	DisGeNET
DOID:4766	embryoma	DisGeNET
DOID:6498	seborrheic keratosis	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 17 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000498	Blepharitis
HP:0000519	Developmental cataract
HP:0000823	Delayed puberty
HP:0001256	Intellectual disability, mild
HP:0001263	Global developmental delay
HP:0001508	Failure to thrive
HP:0002750	Delayed skeletal maturation
HP:0002829	Arthralgia

Displaying 1 entry
Disease ID	Disease Name
OMIM:616834	microcephaly-congenital cataract-psoriasiform dermatitis syndrome

PubChem Disease

MedGen Diseases

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

OMIM Phenotypes

MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS; MCCPD

KEGG Diseases

Microcephaly syndrome

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP000052
Gene Name: methylsterol monooxygenase 1

Ortholog

Displaying entries **61 - 70** of 96 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Vombatus ursinus	114046541		VOMUR10933
Bos indicus x Bos taurus	113875095		BOBOX33610
Chinchilla lanigera	102011613		CHILA00664
Aotus nancymaae	105732480		AOTNA38754
Aotus nancymaae	135277806		AOTNA38754
Phascolarctos cinereus	110200933		PHACI26385
Saimiri boliviensis boliviensis	101053419		SAIBB39346
Ictidomys tridecemlineatus	101963713		ICTTR02018
Jaculus jaculus	101597195		JACJA08579
Scophthalmus maximus	118312754		SCOMX30702

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024