1. Gene
  2. NMD3 - NMD3 ribosome export adaptor Gene

NMD3 - NMD3 ribosome export adaptor Gene

中文名称:NMD3 核糖体输出适配器

种属: Homo sapiens

同用名: CGI-07

基因 ID: 51068 | 基因类型: protein coding

关于 NMD3

Cytogenetic location: 3q26.1 Genomic coordinates (GRCh38): 3:161,221,102-161,253,532 (from NCBI)

This gene has 10 transcripts (splice variants) and 211 orthologues. Ubiquitous expression in bone marrow (RPKM 18.0), urinary bladder (RPKM 15.3) and 25 other tissues.

功能概要

核糖体 40S 和 60S 亚基结合在核仁中并输出到细胞质。该基因编码的蛋白质参与 60S 亚基通过核孔复合体进入细胞质的过程。该基因存在多个转录本变体,但迄今为止仅描述了其中两个的全长性质。[RefSeq 提供,2016 年 2 月]

Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date. [provided by RefSeq, Feb 2016]

NMD3 基因产物(2)

mRNA Protein Name
NM_001320227.2 NP_001307156.1 60S ribosomal export protein NMD3 isoform 1
NM_015938.5 NP_057022.2 60S ribosomal export protein NMD3 isoform 2
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-macromolecule adaptor activity IDA
IDA: 通过直接分析推断
12773398 GOA
enables ribosomal large subunit binding IDA
IDA: 通过直接分析推断
12773398 GOA
enables ribosomal large subunit binding IPI
IPI: 通过物理相互作用推断
12724356 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of RNA biosynthetic process IMP
IMP: 通过突变表型推断
23782956 GOA
involved in positive regulation of protein binding IMP
IMP: 通过突变表型推断
12724356 GOA
involved in positive regulation of protein localization to nucleolus IMP
IMP: 通过突变表型推断
23782956 GOA
involved in ribosomal large subunit export from nucleus IMP
IMP: 通过突变表型推断
12773398 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
12724356 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
12773398 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
12773398 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

NMD3 蛋白结构

NMD3

NMD3: NMD3 family (17 - 246)

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

60S ribosomal export protein NMD3

NMD3 homolog

关联疾病

疾病名称 别名
Retinitis Pigmentosa 34

RP34

Palmoplantar Keratoderma, Bothnian Type

PPKB

Diffuse Palmoplantar Keratoderma, Bothnian Type

Bothnian Type Palmoplantar Keratoderma

Keratoderma, Palmoplantar, Bothnian Type

Palmoplantar Keratoderma, Nonepidermolytic

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Sds

Pancreatic Insufficiency And Bone Marrow Dysfunction

Shwachman-Bodian Syndrome

SDS1

Lipomatosis Of Pancreas, Congenital

Congenital Lipomatosis Of Pancreas

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Shwachman-Diamond-Oski Syndrome

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
Bos taurus NMD3 VGNC VGNC:32125
Mus musculus NMD3 MGD MGI:2140103
Canis familiaris NMD3 VGNC VGNC:43856
Macaca mulatta NMD3 VGNC VGNC:75242
Rattus norvegicus NMD3 RGD RGD:1308468
Felis catus NMD3 VGNC VGNC:63835