MSMO1 - methylsterol monooxygenase 1 Gene

中文名称：甲基甾醇单加氧酶 1

种属: Homo sapiens

同用名: DESP4; ERG25; MCCPD; SC4MOL

基因 ID: 6307 | 基因类型: protein coding

关于 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.

功能概要

基于其与酵母 ERG25 蛋白的相似性分离甾醇-C4-甲基氧化酶样蛋白。它包含一组假定的金属结合基序，与膜去饱和酶-羟化酶家族中的相似。该蛋白质定位于内质网膜，并被认为在胆固醇生物合成中发挥作用。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MSMO1 蛋白结构

FA_hydroxylase

0
100
200
293 a.a.

蛋白主名

其他名称

methylsterol monooxygenase 1

C-4 methylsterol oxidase

MSMO1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS08721	MSMO1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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