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

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 5** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	TAS	8663358
endoplasmic reticulum membrane	TAS
endoplasmic reticulum membrane	IBA
plasma membrane	TAS	8663358
membrane	TAS	8663358

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

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 4** entries
GO Term	Evidence Code	PMID
C-4 methylsterol oxidase activity	TAS
C-4 methylsterol oxidase activity	IBA
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.

OrthoDB (Group)

Group level

Eukaryota

Group Name

methylsterol

Functional Category

C: Energy production and conversion
I: Lipid transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism

Displaying **all 10** entries
Gene Ontology
C-4 methylsterol oxidase activity
C-5 sterol desaturase activity
cholesterol biosynthetic process via lathosterol
ergosterol biosynthetic process
iron ion binding
lipid biosynthetic process
oxidoreductase activity
sphingolipid biosynthetic process
sphingolipid delta-4 desaturase activity
sphingosine hydroxylase activity

Displaying 1 entry
InterPro
Fatty acid hydroxylase

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

RHEA:55220

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

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 **1 - 10** of 94 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	6307	Xenbase:XB-GENE-960872
Mus musculus	66234		MOUSE58689
Rattus norvegicus	140910		RATNO11178
Saccharomyces cerevisiae S288C	185268	SGD:S000003292
Sus scrofa	396590		PIGXX33594
Danio rerio	406662		DANRE16587
Canis lupus familiaris	475491		CANLF19555
Bos taurus	504481		BOVIN09015
Macaca mulatta	705106		MACMU37194
Pan troglodytes	738493		PANTR34760

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements