1. Gene
  2. NOL6 - nucleolar protein 6 Gene

NOL6 - nucleolar protein 6 Gene

中文名称:核仁蛋白 6

种属: Homo sapiens

同用名: NRAP; UTP22; bA311H10.1

基因 ID: 65083 | 基因类型: protein coding

关于 NOL6

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:33,461,353-33,473,924 (from NCBI)

Ubiquitous expression in testis (RPKM 9.6), skin (RPKM 6.9) and 25 other tissues.

功能概要

核仁是一种致密的亚核无膜细胞器,聚集在 rRNA 基因簇周围,并在核糖体生物合成中发挥作用。该基因编码一种在物种间高度保守的核仁 RNA 相关蛋白。透化细胞的 RNase 处理表明核仁定位是 RNA 依赖性的。进一步的研究表明,该蛋白质通过与前 rRNA 初级转录本的相互作用与核糖体生物发生相关。已在该位点观察到选择性剪接,并且已鉴定出编码不同亚型的两个剪接变体。[RefSeq 提供,2008 年 7 月]

The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

NOL6 基因产物(2)

mRNA Protein Name
NM_022917.5 NP_075068.2 nucleolar protein 6 isoform alpha
NM_139235.4 NP_631981.2 nucleolar protein 6 isoform gamma
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
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ribosomal small subunit biogenesis IDA
IDA: 通过直接分析推断
34516797 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of small-subunit processome IDA
IDA: 通过直接分析推断
34516797 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

NOL6 蛋白结构

Nrap

Nrap: Nrap protein domain 1 (165 - 1139)

  • 0
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  • 1000
  • 1146 a.a.
蛋白主名 其他名称

nucleolar protein 6

nucleolar RNA-associated protein

NOL6 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
NOL6 Q9H6R4 JPH3 Homo sapiens Q8WXH2 32814053
种属内
NOL6 Q9H6R4 JPH3 Homo sapiens Q8WXH2 32814053
种属内
NOL6 Q9H6R4 JPH3 Homo sapiens Q8WXH2 32814053
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

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas 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

直系同源

种属 基因名 来源 基因 ID
Mus musculus NOL6 MGD MGI:2140151
Canis familiaris NOL6 VGNC VGNC:43883
Bos taurus NOL6 VGNC VGNC:32158
Macaca mulatta NOL6 VGNC VGNC:75218
Rattus norvegicus NOL6 RGD RGD:1308033
Felis catus NOL6 VGNC VGNC:63852