MSMO1 - methylsterol monooxygenase 1 Gene

Homo sapiens

Also known as DESP4; ERG25; MCCPD; SC4MOL

Gene ID: 6307 | Gene type: protein coding

About MSMO1

Cytogenetic location: 4q32.3 Genomic coordinates (GRCh38): 4:165,327,669-165,343,164 (from NCBI)

This gene has 5 transcripts (splice variants), 220 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in liver (RPKM 94.8), brain (RPKM 43.2) and 20 other tissues.

Summary

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]

MSMO1 Products(2)

mRNA	Protein	Name
NM_001017369.3	NP_001017369.1	methylsterol monooxygenase 1 isoform 2
NM_006745.5	NP_006736.1	methylsterol monooxygenase 1 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MSMO1 Protein Structure

FA_hydroxylase

0
100
200
293 a.a.

Protein Preferred Names

Protein Names

methylsterol monooxygenase 1

C-4 methylsterol oxidase

MSMO1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MSMO1	Q15800	TMEM242	Homo sapiens	Q9NWH2	Validated Y2H	32296183
Intra	MSMO1	Q15800	GOLT1A	Homo sapiens	Q6ZVE7	Validated Y2H	32296183
Intra	MSMO1	Q15800	CYP4F22	Homo sapiens	Q6NT55	Validated Y2H	32296183
Intra	MSMO1	Q15800	TMEM86B	Homo sapiens	Q8N661	Validated Y2H	32296183
Intra	MSMO1	Q15800	TMEM140	Homo sapiens	Q9NV12	Validated Y2H	32296183
Intra	MSMO1	Q15800	TMEM65	Homo sapiens	Q6PI78	Validated Y2H	32296183
Intra	MSMO1	Q15800	ERG28	Homo sapiens	Q9UKR5	Validated Y2H	32296183
Intra	MSMO1	Q15800	DNAJC30	Homo sapiens	Q96LL9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis

Microcephaly-Congenital Cataract-Psoriasiform Dermatitis Syndrome	MCCPD
Sc4mol Deficiency	Smo Deficiency
Sterol-C4-Methyl Oxidase Deficiency

Ck Syndrome

CKS	X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome
Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation

Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

Child Syndrome	Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs
Child Nevus	Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects
Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects	Ichthyosis, Child Syndrome
Child Syndrome Ichthyosis	CHILD

Dermatitis

Eczema	Skin Inflammation
Inflammatory Dermatosis

X-Linked Chondrodysplasia Punctata 2

Happle Syndrome	Cdpx2
Conradi-Hünermann Syndrome	Chondrodysplasia Punctata 2, X-Linked
X-Linked Dominant Chondrodysplasia Punctata	Conradi-Hunermann Syndrome
Conradi-Hünermann-Happle Syndrome	Cdpxd
Cpxd	Chondrodystrophia Calcificans Congenita
Conradi-Hunermann-Happle Syndrome	X-Linked Chondrodysplasia Punctata Type 2
Chondrodysplasia Punctata, X-Linked Dominant Type

Greenberg Dysplasia

Hem Dysplasia	Greenberg Skeletal Dysplasia
Hem Skeletal Dysplasia	GRBGD
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia	Moth-Eaten Skeletal Dysplasia
Chondrodystrophy, Hydropic And Prenatally Lethal Type	Hydrops-Ectopic Calcification-Motheaten Syndrome
Skeletal Dysplasia, Greenberg Type	Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia	Hem
Hem/Greenberg Dysplasia	Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia

Dermatomycosis

Dermatomycoses

Atrial Septal Defect 6

ASD6	Atrial Heart Septal Defect 6
Septal Defect, Atrial, Type 6

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Smith-Lemli-Opitz Syndrome

SLOS	Rsh Syndrome
7-Dehydrocholesterol Reductase Deficiency	Slo Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome	Lethal Acrodysgenital Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung	Smith-Opitz-Inborn Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung	Smith Lemli Opitz Syndrome
Smith-Lemli-Opitz Syndrome, Type Ii

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08721	MSMO1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MSMO1	VGNC	VGNC:78527
Mus musculus	MSMO1	MGD	MGI:1913484
Bos taurus	MSMO1	VGNC	VGNC:31701
Canis familiaris	MSMO1	VGNC	VGNC:43445
Macaca mulatta	MSMO1	VGNC	VGNC:107183
Rattus norvegicus	MSMO1	RGD	RGD:620281

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