1. Gene
  2. NSUN4 - NOP2/Sun RNA methyltransferase 4 Gene

NSUN4 - NOP2/Sun RNA methyltransferase 4 Gene

中文名称:NOP2/Sun RNA 甲基转移酶 4

种属: Homo sapiens

同用名: SHTAP

基因 ID: 387338 | 基因类型: protein coding

关于 NSUN4

Cytogenetic location: 1p33 Genomic coordinates (GRCh38): 1:46,340,807-46,385,199 (from NCBI)

This gene has 9 transcripts (splice variants), 184 orthologues and 2 paralogues. Broad expression in testis (RPKM 13.3), thyroid (RPKM 4.5) and 25 other tissues.

功能概要

启用 rRNA (胞嘧啶-C5-) -甲基转移酶活性。参与 rRNA 甲基化。线粒体核糖体大亚基的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables rRNA (cytosine-C5-)-methyltransferase activity. Involved in rRNA methylation. Part of mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022]

NSUN4 基因产物(11)

mRNA Protein Name
NM_001256127.3 NP_001243056.1 5-methylcytosine rRNA methyltransferase NSUN4 isoform b
NM_001256128.3 NP_001243057.1 5-methylcytosine rRNA methyltransferase NSUN4 isoform b
NM_001387265.1 NP_001374194.1 5-methylcytosine rRNA methyltransferase NSUN4 isoform c
NM_001387266.1 NP_001374195.1 5-methylcytosine rRNA methyltransferase NSUN4 isoform d
NM_001387267.1 NP_001374196.1 5-methylcytosine rRNA methyltransferase NSUN4 isoform e
NM_001387268.1 NP_001374197.1 5-methylcytosine rRNA methyltransferase NSUN4 isoform f
NM_001387269.1 NP_001374198.1 5-methylcytosine rRNA methyltransferase NSUN4 isoform g
NM_001387270.1 NP_001374199.1 5-methylcytosine rRNA methyltransferase NSUN4 isoform h
NM_001387271.1 NP_001374200.1 5-methylcytosine rRNA methyltransferase NSUN4 isoform i
NM_001387272.1 NP_001374201.1 5-methylcytosine rRNA methyltransferase NSUN4 isoform j
NM_199044.4 NP_950245.2 5-methylcytosine rRNA methyltransferase NSUN4 isoform a
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 protein binding IPI
IPI: 通过物理相互作用推断
21531335 GOA
enables rRNA (cytosine-C5-)-methyltransferase activity EXP
EXP: 通过实验结果推断
21531335 GOA
enables rRNA methyltransferase activity IDA
IDA: 通过直接分析推断
23022348 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in rRNA methylation IDA
IDA: 通过直接分析推断
23022348 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of mitochondrial large ribosomal subunit IDA
IDA: 通过直接分析推断
21531335 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

NSUN4 蛋白结构

Methyltr_RsmB-F

Methyltr_RsmB-F: 16S rRNA methyltransferase RsmB/F (155 - 325)

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

5-methylcytosine rRNA methyltransferase NSUN4

5-methylcytosine tRNA methyltransferase NSUN4

NSUN4 抗体

目录号 产品名 应用 反应物种
HY-P86991 NSUN4 Antibody (YA6684) WB, ICC/IF Human

关联疾病

疾病名称 别名
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

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

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris NSUN4 VGNC VGNC:54217
Mus musculus NSUN4 MGD MGI:1919431
Bos taurus NSUN4 VGNC VGNC:55638
Felis catus NSUN4 VGNC VGNC:107595
Rattus norvegicus NSUN4 RGD RGD:1559652