MOCS2 - molybdenum cofactor synthesis 2 Gene

中文名称：钼辅助因子合成 2

种属: Homo sapiens

同用名: MPTS; MCBPE; MOCO1; MOCODB

基因 ID: 4338 | 基因类型: protein coding

关于 MOCS2

Cytogenetic location: 5q11.2 Genomic coordinates (GRCh38): 5:53,095,679-53,109,757 (from NCBI)

This gene has 10 transcripts (splice variants), 210 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 14.3), adrenal (RPKM 13.2) and 25 other tissues.

功能概要

真核钼酶使用一种独特的钼辅助因子 (MoCo) ，该辅助因子由称为钼蝶呤的蝶呤和具有催化活性的金属钼组成。 MoCo 是通过异二聚体酶钼蝶呤合酶从前体 Z 合成的。钼蝶呤合酶的大亚基和小亚基均由该基因通过重叠的开放阅读框编码。这些蛋白质最初被认为是由双顺反子转录物编码的。现在认为它们是由单顺反子转录本编码的。已经为编码大亚基和小亚基的该基因座发现了选择性剪接的转录本。[RefSeq 提供，2008 年 7 月]

Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric Enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]

MOCS2 基因产物(2)

mRNA	Protein	Name
NM_004531.5	NP_004522.1	molybdopterin synthase catalytic subunit large subunit MOCS2B
NM_176806.4	NP_789776.1	molybdopterin synthase sulfur carrier subunit small subunit MOCS2A

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
contributes to molybdopterin synthase activity	IDA IDA: 通过直接分析推断	12732628	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12732628	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in Mo-molybdopterin cofactor biosynthetic process	IDA IDA: 通过直接分析推断	12732628	GOA
involved in Mo-molybdopterin cofactor biosynthetic process	IMP IMP: 通过突变表型推断	10053004	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytosol	IDA IDA: 通过直接分析推断	15073332	GOA
part of molybdopterin synthase complex	IPI IPI: 通过物理相互作用推断	12732628	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

MOCS2 蛋白结构

MoaE

0
100
188 a.a.

蛋白主名

其他名称

molybdopterin synthase catalytic subunit

molybdopterin synthase sulfur carrier subunit

molybdenum cofactor biosynthesis protein E

MOCS2 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
种属内	MOCS2	O96007	MOCS2	Homo sapiens	O96033	GMS	16021469
种属内	MOCS2	O96007	MOCS2	Homo sapiens	O96033	GMS	12732628

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

Molybdenum Cofactor Deficiency, Complementation Group B

MOCODB	Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B
Molybdenum Cofactor Deficiency B	Molybdenum Cofactor Deficiency Type B
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type B	Mocod Type B
Molybdenum Cofactor Deficiency Complementation Group B	Deficiency, Molybdenum Cofactor, Complementation Group B

Molybdenum Cofactor Deficiency, Complementation Group A

MOCODA	Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A
Molybdenum Cofactor Deficiency A	Molybdenum Cofactor Deficiency Type A
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A	Mocod Type A
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase	Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of
Molybdenum Cofactor Deficiency Complementation Group A	Molybdenum Cofactor Deficiency, Type A
Deficiency, Molybdenum Cofactor, Complementation Group A

Molybdenum Cofactor Deficiency

Combined Molybdoflavoprotein Enzyme Deficiency	Mocod
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase	Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase
Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency	Deficiency Of Molybdenum Cofactor
Deficiency, Molybdenum Cofactor

Sulfite Oxidase Deficiency, Isolated

Sulfite Oxidase Deficiency	Sulfocysteinuria
Isolated Sulfite Oxidase Deficiency	ISOD
Encephalopathy Due To Sulfite Oxidase Deficiency

Molybdenum Cofactor Deficiency, Complementation Group C

MOCODC	Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type C
Molybdenum Cofactor Deficiency C	Molybdenum Cofactor Deficiency Type C
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type C	Mocod Type C
Molybdenum Cofactor Deficiency Complementation Group C	Deficiency, Molybdenum Cofactor, Complementation Group C

Encephalomalacia

Epilepsy, Early-Onset, Vitamin B6-Dependent

EPVB6D

Early-Onset Vitamin B6-Dependent Epilepsy

Combined Oxidative Phosphorylation Deficiency 23

COXPD23	Combined Oxidative Phosphorylation Defect Type 23
Oxidative Phosphorylation Deficiency, Combined, Type 23

Epilepsy, Pyridoxine-Dependent

Pyridoxine-Dependent Epilepsy	PDE
Pyridoxine Dependency With Seizures	Vitamin B6-Dependent Seizures
EPD	Aasa Dehydrogenase Deficiency
Antiquitin Deficiency	Pyridoxine Dependency
Glutamate Decarboxylase Deficiency	Pyridoxine-Dependent Seizures
Deficiency Of Glutamate Decarboxylase

D-Glyceric Aciduria

D-Glyceric Acidemia	D-Glycericacidemia
Glycerate Kinase Deficiency	D-Glycerate Kinase Deficiency
Non Ketotic Hyperglycinemia Syndrome	Deficiency Of Glycerate Kinase
Hyperglycinemia, Non-Ketotic	D-GA

Hyperprolinemia, Type Ii

Hyperprolinemia Type 2	HYRPRO2
Hpii	1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Hyperprolinemia Type Ii	1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Type 2 Hyperprolinemia	Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Hyperprolinemia 2

Xanthinuria

Xanthine Dehydrogenase Deficiency	Xanthine Oxidase Deficiency
Hereditary Xanthinuria	Xanthic Urolithiasis
Xanthine Stone Disease	Xanthinuria, Type I
Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase	Xdh Deficiency
Classic Xanthinuria	Xanthinuria, Type Ii
Classical Xanthinuria	Xanthine Calculus

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Cerebral Creatine Deficiency Syndrome 2

Guanidinoacetate Methyltransferase Deficiency	Gamt Deficiency
Creatine Deficiency Syndrome Due To Gamt Deficiency	Deficiency Of Guanidinoacetate Methyltransferase
CCDS2	Guanidinoacetate Methyltransferase Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 2	Language Development Disorders

Methylmalonic Aciduria And Homocystinuria, Cblc Type

MAHCC	Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase
Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic	Methylmalonic Aciduria And Homocystinuria Type Cblc
Cobalamin C Disease	Methylmalonic Acidemia With Homocystinuria Cblc
Methylmalonic Acidemia And Homocystinuria, Cblc Type	Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive
Cobalamin C Deficiency	Methylmalonic Acidemia With Homocystinuria, Type Cblc
Cblc Defect	Cobalamin C Defect
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc	Methylmalonic Aciduria With Homocystinuria, Type Cblc
Methylmalonic Acidemia And Homocystinuria Cblc Type	Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive
Aciduria, Methylmalonic, And Homocystinuria, Cblc Type	Methylmalonic Acidemia With Homocystinuria

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
Disorders Of Peroxisome Biogenesis	Zellweger Spectrum
Zellweger Syndrome Spectrum	Peroxisomal Biogenesis Disorders
Pbd, Zss	Pbd-Zsd
Pbd-Zss	Pbd-Zellweger Spectrum Disorder
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum	Peroxisome Biogenesis Disorder
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorders
Zellweger Spectrum Disorder	Hyperpipecolic Acidaemia

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

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-RS08581	MOCS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	MOCS2	RGD	RGD:1359477
Macaca mulatta	MOCS2	VGNC	VGNC:84446
Mus musculus	MOCS2	MGD	MGI:1336894
Canis familiaris	MOCS2	VGNC	VGNC:43306
Bos taurus	MOCS2	VGNC	VGNC:31548
Felis catus	MOCS2	VGNC	VGNC:68297

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