2. Gene
  3. NSUN5 - NOP2/Sun RNA methyltransferase 5 Gene

NSUN5 - NOP2/Sun RNA methyltransferase 5 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：NOP2/Sun RNA 甲基转移酶 5

种属: Homo sapiens

同用名: NOL1; p120; NOL1R; NSUN5A; WBSCR20; WBSCR20A; p120(NOL1)

基因 ID: 55695 | 基因类型: protein coding

关于 NSUN5

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,302,516-73,308,826 (from NCBI)

This gene has 7 transcripts (splice variants), 205 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 17.7), lymph node (RPKM 12.4) and 25 other tissues.

功能概要

该基因编码可能作为甲基转移酶发挥作用的进化上保守的蛋白质家族成员。该基因位于 7 号染色体的较大区域，该区域在 Williams-Beuren 综合征 (一种多系统发育障碍) 中缺失。该基因有两个假基因位于 7 号染色体的同一区域。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2013 年 7 月]

This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

NSUN5 基因产物(4)

mRNA Protein Name
NM_001168347.3 NP_001161819.1 28S rRNA (cytosine-C(5))-methyltransferase isoform 3
NM_001168348.3 NP_001161820.1 28S rRNA (cytosine-C(5))-methyltransferase isoform 4
NM_018044.5 NP_060514.1 28S rRNA (cytosine-C(5))-methyltransferase isoform 2
NM_148956.4 NP_683759.1 28S rRNA (cytosine-C(5))-methyltransferase isoform 1
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 rRNA (cytosine-C5-)-methyltransferase activity IDA
IDA: 通过直接分析推断
31428936 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of translation IMP
IMP: 通过突变表型推断
31428936 GOA
involved in rRNA base methylation IDA
IDA: 通过直接分析推断
31428936 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleolus IDA
IDA: 通过直接分析推断
31722427 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

NSUN5 蛋白结构

Methyltr_RsmB-F

Methyltr_RsmB-F: 16S rRNA methyltransferase RsmB/F (191 - 421)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 429 a.a.
蛋白主名 其他名称

28S rRNA (cytosine-C(5))-methyltransferase

NOL1-related protein

NSUN5 抗体

目录号 产品名 应用 反应物种
HY-P86992 NSUN5 Antibody (YA6685) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
Ehrlichiosis

Human Ehrlichiosis

He

Hey
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
Cardiomyopathy, Familial Restrictive, 1

RCM1

Restrictive Cardiomyopathy 1

Rcm

Familial Restrictive Cardiomyopathy 1

Cardiomyopathy, Familial Restrictive 1

Cardiomyopathy, Restrictive, Familial, Type 1

Rcm-1
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
B-Lymphoblastic Leukemia/Lymphoma With Hyperdiploidy

B-All With Hyperdiploidy

B Lymphoblastic Leukemia Lymphoma With Hyperdiploidy
Bowen-Conradi Syndrome

BWCNS

Bowen Hutterite Syndrome

Bowen-Conradi Hutterite Syndrome

Bowen Syndrome, Hutterite Type

Bowen Hutterite Syndrome, Formerly

Hutterite Syndrome

Bowen Syndrome Hutterite Type

Fetal Growth Retardation
Supravalvular Aortic Stenosis

SVAS

Supravalvar Aortic Stenosis

Supravalvar Aortic Stenosis, Eisenberg Type

Aortic Supravalvular Stenosis

Aortic Stenosis, Supravalvular

Supra-Valvular Aortic Stenosis

Stenosis, Aortic Supravalvular

Stenosis, Supravalvular Aortic

Supravalvular Stenosis, Aortic

Aortic Stenosis Supravalvular
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
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09604 NSUN5 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22693 Nsun5 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS29207 Nsun5 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta NSUN5 VGNC VGNC:75412
Canis familiaris NSUN5 VGNC VGNC:59396
Mus musculus NSUN5 MGD MGI:2140844
Rattus norvegicus NSUN5 RGD RGD:1309268
Felis catus NSUN5 VGNC VGNC:63894
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