1. Gene
  2. NUP133 - nucleoporin 133 Gene

NUP133 - nucleoporin 133 Gene

中文名称:核孔蛋白 133

种属: Homo sapiens

同用名: GAMOS8; NPHS18; hNUP133

基因 ID: 55746 | 基因类型: protein coding

关于 NUP133

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:229,440,259-229,508,341 (from NCBI)

This gene has 4 transcripts (splice variants), 207 orthologues and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 11.8), brain (RPKM 11.8) and 25 other tissues.

功能概要

核膜在真核细胞中产生不同的核和细胞质区室。它由两个由核孔穿孔的同心膜组成,大型蛋白质复合物形成水通道以调节细胞核和细胞质之间大分子的流动。这些复合物由至少 100 个不同的多肽亚基组成,其中许多属于核孔蛋白家族。由该基因编码的核孔蛋白显示出与其他核孔蛋白在进化上保守的相互作用。这种蛋白质在间期定位于核孔复合体的两侧,在有丝分裂期间仍与复合体相关,并在早期阶段靶向重整核膜。这种蛋白质也定位于有丝分裂细胞的着丝粒。[RefSeq 提供,2008 年 7 月]

The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with Other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]

NUP133 基因产物(1)

mRNA Protein Name
NM_018230.3 NP_060700.2 nuclear pore complex protein Nup133
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
11564755 GOA
enables structural constituent of nuclear pore IDA
IDA: 通过直接分析推断
11684705 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA export from nucleus IDA
IDA: 通过直接分析推断
11684705 GOA
involved in nephron development IMP
IMP: 通过突变表型推断
30179222 GOA
involved in nuclear pore organization IMP
IMP: 通过突变表型推断
15146057 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with kinetochore IDA
IDA: 通过直接分析推断
17098863 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
24315095 GOA
part of nuclear pore IDA
IDA: 通过直接分析推断
11564755 GOA
part of nuclear pore outer ring IDA
IDA: 通过直接分析推断
15146057 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

NUP133 蛋白结构

Nucleoporin_N

Nucleoporin_N: Nup133 N terminal like (82 - 471)

Nucleoporin_C

Nucleoporin_C: Non-repetitive/WGA-negative nucleoporin C-terminal (593 - 1106)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1156 a.a.
蛋白主名 其他名称

nuclear pore complex protein Nup133

133 kDa nucleoporin

NUP133 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
种属间
NUP133 Q8WUM0 NUP85 Saccharomyces cerevisiae P46673
Y2H Array
27194810
种属间
NUP133 Q8WUM0 NUP85 Saccharomyces cerevisiae P46673
MST
27194810
种属内
NUP133 Q8WUM0 NUP107 Homo sapiens P57740
Anti Bait CoIP
17363900
种属内
NUP133 Q8WUM0 NUP107 Homo sapiens P57740
Anti Tag CoIP
30179222
种属内
NUP133 Q8WUM0 NUP107 Homo sapiens P57740
Y2H
11564755
种属内
NUP133 Q8WUM0 NUP107 Homo sapiens P57740
Anti Tag CoIP
33961781
种属内
NUP133 Q8WUM0 NUP107 Homo sapiens P57740
Y2H Array
27194810
种属内
NUP133 Q8WUM0 NUP107 Homo sapiens P57740
CoIP
11564755
种属内
NUP133 Q8WUM0 NUP107 Homo sapiens P57740
BiFC
27194810
种属内
NUP133 Q8WUM0 LRRK2 Homo sapiens Q5S007
Protein Array
24947832
种属内
NUP133 Q8WUM0 NUP85 Homo sapiens Q9BW27
Anti Tag CoIP
33961781
种属内
NUP133 Q8WUM0 NUP85 Homo sapiens Q9BW27
BiFC
27194810
种属内
NUP133 Q8WUM0 CENPF Homo sapiens P49454
Y2H
17363900
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
Galloway-Mowat Syndrome 8

GAMOS8

Nephrotic Syndrome, Type 18

NPHS18

Nephrotic Syndrome Type 18

Nephrotic Syndrome 18

Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

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

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

Polymicrogyria

Pmg

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Macaca mulatta NUP133 VGNC VGNC:75428
Mus musculus NUP133 MGD MGI:2442620
Felis catus NUP133 VGNC VGNC:63919
Bos taurus NUP133 VGNC VGNC:32351
Canis familiaris NUP133 VGNC VGNC:44045
Rattus norvegicus NUP133 RGD RGD:1307827