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  2. NUP155 - nucleoporin 155 Gene

NUP155 - nucleoporin 155 Gene

中文名称:核孔蛋白 155

种属: Homo sapiens

同用名: N155; ATFB15

基因 ID: 9631 | 基因类型: protein coding

关于 NUP155

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:37,288,137-37,371,106 (from NCBI)

This gene has 8 transcripts (splice variants), 205 orthologues and is associated with 2 phenotypes. Broad expression in testis (RPKM 44.4), bone marrow (RPKM 5.5) and 19 other tissues.

功能概要

核孔蛋白是在核孔复合体 (NPC) 的组装和功能中发挥重要作用的蛋白质,核孔复合体调节大分子穿过核膜 (NE) 的运动。由该基因编码的蛋白质在 NE 囊泡的融合和双膜 NE 的形成中起作用。该蛋白质还可能参与心脏生理学,并可能与心房颤动的发病机制有关。可变剪接导致该基因的多个转录变体。与该基因相关的假基因位于 6 号染色体上。[RefSeq 提供,2013 年 5 月]

Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]

NUP155 基因产物(3)

mRNA Protein Name
NM_001278312.2 NP_001265241.1 nuclear pore complex protein Nup155 isoform 3
NM_004298.4 NP_004289.1 nuclear pore complex protein Nup155 isoform 2
NM_153485.3 NP_705618.1 nuclear pore complex protein Nup155 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 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
acts upstream of or within nuclear envelope organization IDA
IDA: 通过直接分析推断
19070573 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nuclear envelope IDA
IDA: 通过直接分析推断
19070573 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

NUP155 蛋白结构

Nucleoporin_N

Nucleoporin_N: Nup133 N terminal like (78 - 508)

Nucleoporin_C

Nucleoporin_C: Non-repetitive/WGA-negative nucleoporin C-terminal (700 - 1268)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1391 a.a.
蛋白主名 其他名称

nuclear pore complex protein Nup155

155 kDa nucleoporin

NUP155 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
Intra NUP155 O75694 LMNA Homo sapiens P02545
Anti Bait CoIP
30488537
Intra NUP155 O75694 LMNA Homo sapiens P02545
Confocal
30488537
Intra NUP155 O75694 LMNA Homo sapiens P02545
Pull Down
30488537
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
Atrial Fibrillation, Familial, 15

ATFB15

Atrial Fibrillation 15

Fibrillation, Atrial, Familial, Type 15

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

Atrial Fibrillation

A-Fib

Fibrillation, Atrial

Af - [Atrial Fibrillation]

Rapid Atrial Fibrillation

A Fib - [Atrial Fibrillation]

Lethal Congenital Contracture Syndrome 1

LCCS1

Multiple Contracture Syndrome, Finnish Type

Lccs

Lethal Autosomal Recessive Syndrome Of Multiple Congenital Contractures

Lethal Congenital Contracture Syndrome Type 1

Herva Disease

Multiple Contracture Syndrome Finnish Type

Contracture Syndrome, Lethal, Congenital, Type 1

Anterior Horn Cell Disease
Lethal Congenital Contracture Syndrome

Lccs

Lethal Congenital Contracture Syndrome 1

Achalasia-Addisonianism-Alacrima Syndrome

Allgrove Syndrome

Triple-A Syndrome

Achalasia-Addisonianism-Alacrimia Syndrome

Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder

Triple A Syndrome

Aaa Syndrome

AAAS

Glucocorticoid Deficiency With Achalasia

Glucocorticoid Deficiency And Achalasia

Addisonian-Achalasia Syndrome

Hypoadrenalism With Achalasia

Alacrima-Achalasia-Addisonianism

Aaa

Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima

Achalasia Addisonianism Alacrimia Syndrome

Achalasia Alacrima Syndrome

Addisonian Achalasia Syndrome

Achalasia-Addisonian Syndrome

Achalasia-Alacrima Syndrome

2a Syndrome

3a Syndrome

4a Syndrome

Adrenal Insufficiency-Achalasia-Alacrima Syndrome

Double A Syndrome

Quaternary A Syndrome

Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima

Allgrove'S Syndrome

Adrenal Gland Hypofunction

Adrenal Cortical Hypofunction

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death 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
Canis familiaris NUP155 VGNC VGNC:44046
Macaca mulatta NUP155 VGNC VGNC:84456
Bos taurus NUP155 VGNC VGNC:32352
Mus musculus NUP155 MGD MGI:2181182
Felis catus NUP155 VGNC VGNC:102275
Rattus norvegicus NUP155 RGD RGD:621199