1. Gene
  2. NUP93 - nucleoporin 93 Gene

NUP93 - nucleoporin 93 Gene

中文名称:核孔蛋白 93

种属: Homo sapiens

同用名: NIC96

基因 ID: 9688 | 基因类型: protein coding

关于 NUP93

Cytogenetic location: 16q13 Genomic coordinates (GRCh38): 16:56,730,129-56,850,286 (from NCBI)

This gene has 21 transcripts (splice variants), 216 orthologues and is associated with 2 phenotypes. Broad expression in testis (RPKM 20.8), thyroid (RPKM 10.6) and 24 other tissues.

功能概要

核孔复合体是一个巨大的结构,延伸穿过核膜,形成调节细胞核和细胞质之间大分子流动的通道。核孔蛋白是真核细胞核孔复合体的主要成分。该基因编码一种核孔蛋白,该蛋白定位于孔的篮子和孔的中央门控通道的核入口。编码的蛋白质是半胱天冬酶半胱氨酸蛋白酶的靶标,在细胞凋亡引起的程序性细胞死亡中起着核心作用。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2016 年 12 月]

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of Caspase cysteine proteases that play a central role in programmed cell death by Apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

NUP93 基因产物(3)

mRNA Protein Name
NM_001242795.2 NP_001229724.1 nuclear pore complex protein Nup93 isoform 2
NM_001242796.2 NP_001229725.1 nuclear pore complex protein Nup93 isoform 2
NM_014669.5 NP_055484.3 nuclear pore complex protein Nup93 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
26878725 GOA
enables structural constituent of nuclear pore IMP
IMP: 通过突变表型推断
15229283 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in nuclear envelope organization IDA
IDA: 通过直接分析推断
26878725 GOA
involved in nuclear pore complex assembly IDA
IDA: 通过直接分析推断
26878725 GOA
involved in nuclear pore complex assembly IMP
IMP: 通过突变表型推断
15229283 GOA
involved in positive regulation of SMAD protein signal transduction IDA
IDA: 通过直接分析推断
26878725 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
24315095 GOA
located in nuclear membrane IDA
IDA: 通过直接分析推断
15229283 GOA
located in nuclear periphery IDA
IDA: 通过直接分析推断
15229283 GOA
part of nuclear pore IDA
IDA: 通过直接分析推断
12802065 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

NUP93 蛋白结构

Nic96

Nic96: Nup93/Nic96 (203 - 803)

  • 0
  • 200
  • 400
  • 600
  • 819 a.a.
蛋白主名 其他名称

nuclear pore complex protein Nup93

93 kDa nucleoporin

NUP93 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 NUP93 Q8N1F7 TMEM100 Homo sapiens Q9NV29
Validated Y2H
32296183
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
Nephrotic Syndrome, Type 12

NPHS12

Nephrotic Syndrome Type 12

Nephrotic Syndrome 12

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

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

Breast Juvenile Papillomatosis

Juvenile Papillomatosis Of The Breast

Marcus Gunn Phenomenon

Jaw-Winking Syndrome

Marcus-Gunn Syndrome

Jaw-Winking

Maxillopalpebral Synkinesis

Abnormal Innervation Syndrome Of Eyelid

Jaw-Blinking

Pterygoid-Levator Synkinesis

Familial Marcus Gunn Phenomenon

Marcus Gunn Syndrome

Mandibulo-Palpebral Synkinesis-Ptosis Syndrome

Marcus-Gunn Phenomenon

Cranioectodermal Dysplasia 4

CED4

Sensenbrenner Syndrome 4

Dysplasia, Cranioectodermal, Type 4

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

Frasier Syndrome

FS

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

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
Rattus norvegicus NUP93 RGD RGD:1311525
Mus musculus NUP93 MGD MGI:1919055
Bos taurus NUP93 VGNC VGNC:32366
Macaca mulatta NUP93 VGNC VGNC:75481
Felis catus NUP93 VGNC VGNC:63928
Canis familiaris NUP93 VGNC VGNC:44062