MSMO1 - methylsterol monooxygenase 1 Gene

Also Known as DESP4; ERG25; MCCPD; SC4MOL

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 6307

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	参考文献	由来
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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS08721	MSMO1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20056	Msmo1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26560	Msmo1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	MSMO1	NCBI