NSUN3 - NOP2/Sun RNA methyltransferase 3 Gene

中文名称：NOP2/Sun RNA 甲基转移酶 3

种属: Homo sapiens

同用名: MST077; COXPD48; MSTP077

基因 ID: 63899 | 基因类型: protein coding

关于 NSUN3

Cytogenetic location: 3q11.2 Genomic coordinates (GRCh38): 3:94,063,061-94,131,832 (from NCBI)

This gene has 8 transcripts (splice variants), 200 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 4.7), testis (RPKM 4.7) and 25 other tissues.

功能概要

启用 tRNA (cytosine-5-) -methyltransferase 活性。参与调节线粒体翻译和 tRNA 摆动碱基胞嘧啶甲基化。位于线粒体基质中。涉及联合氧化磷酸化缺陷 48。[由基因组资源联盟提供，2022 年 4 月]

Enables tRNA (cytosine-5-)-methyltransferase activity. Involved in regulation of mitochondrial translation and tRNA wobble base cytosine methylation. Located in mitochondrial matrix. Implicated in combined Oxidative Phosphorylation deficiency 48. [provided by Alliance of Genome Resources, Apr 2022]

NSUN3 基因产物(1)

mRNA	Protein	Name
NM_022072.5	NP_071355.1	tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial

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
enables tRNA (cytidine-5-)-methyltransferase activity	IDA IDA: 通过直接分析推断	27214402	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in regulation of mitochondrial translation	IMP IMP: 通过突变表型推断	27356879	GOA
involved in tRNA wobble base cytosine methylation	IDA IDA: 通过直接分析推断	27214402	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrial matrix	IDA IDA: 通过直接分析推断	27497299	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	27214402	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

NSUN3 蛋白结构

Methyltr_RsmB-F

0
100
200
300
340 a.a.

蛋白主名

其他名称

tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial

NOL1/NOP2/Sun domain family member 3

NSUN3 抗体

目录号	产品名	应用	反应物种
HY-P86990	NSUN3 Antibody (YA6683)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

关联疾病

疾病名称

别名

Combined Oxidative Phosphorylation Deficiency 48

COXPD48

Combined Oxidative Phosphorylation Deficiency

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Metabolic Acidosis

Dubowitz Syndrome

Dubowitz'S Syndrome	Dwarfism-Eczema-Peculiar Facies Syndrome
Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Microcephaly

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

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-RS21671	Nsun3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS09602	NSUN3 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS28189	Nsun3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	NSUN3	VGNC	VGNC:43991
Macaca mulatta	NSUN3	VGNC	VGNC:75468
Mus musculus	NSUN3	MGD	MGI:2146565
Felis catus	NSUN3	VGNC	VGNC:63893
Rattus norvegicus	NSUN3	RGD	RGD:2322119
Bos taurus	NSUN3	VGNC	VGNC:32286

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

NSUN3 - NOP2/Sun RNA methyltransferase 3 Gene

关于 NSUN3

功能概要

NSUN3 基因产物(1)

NSUN3 蛋白结构

NSUN3 抗体

关联疾病

直系同源

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NSUN3 - NOP2/Sun RNA methyltransferase 3 Gene

关于 NSUN3

功能概要

NSUN3 基因产物(1)

NSUN3 蛋白结构

NSUN3 抗体

关联疾病

相关产品

直系同源

热门区域

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F

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