1. Gene
  2. NUP88 - nucleoporin 88 Gene

NUP88 - nucleoporin 88 Gene

中文名称:核孔蛋白 88

种属: Homo sapiens

同用名: FADS4

基因 ID: 4927 | 基因类型: protein coding

关于 NUP88

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:5,384,833-5,419,662 (from NCBI)

This gene has 33 transcripts (splice variants), 204 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 25.7), lymph node (RPKM 15.5) and 25 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。核孔蛋白是一个由 50 到 100 种蛋白质组成的家族,是真核细胞核孔复合体的主要成分。该基因编码的蛋白质属于核孔蛋白家族,与动态亚复合体中的致癌核孔蛋白 CAN/Nup214 相关。这种蛋白质也在大量恶性肿瘤和癌前异常增生中过度表达。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 3 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, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

NUP88 基因产物(2)

mRNA Protein Name
NM_001320653.2 NP_001307582.1 nuclear pore complex protein Nup88 isoform 1
NM_002532.6 NP_002523.2 nuclear pore complex protein Nup88 isoform 2

NUP88 蛋白结构

Nup88

Nup88: Nuclear pore component (11 - 741)

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

nuclear pore complex protein Nup88

karyoporin

NUP88 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 NUP88 Q99567 TFIP11 Homo sapiens Q9UBB9
Y2H Prey Pooling
32296183
Intra NUP88 Q99567 TFIP11 Homo sapiens Q9UBB9
Validated Y2H
32296183
Intra NUP88 Q99567 TFIP11 Homo sapiens Q9UBB9
Y2H Array
32296183
Intra NUP88 Q99567 NUP214 Homo sapiens P35658
Anti Tag CoIP
33961781
Intra NUP88 Q99567 NUP62 Homo sapiens P37198
Y2H Prey Pooling
32296183
Intra NUP88 Q99567 NUP62 Homo sapiens P37198
Y2H Array
32296183
Intra NUP88 Q99567 NUP62 Homo sapiens P37198
Anti Tag CoIP
28514442
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
Fetal Akinesia Deformation Sequence 4

FADS4

Fetal Akinesia Deformation Sequence Syndrome 4

Akinesia, Fetal, Deformation Sequence, Type 4

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence

Fads

Fetal Akinesia Sequence

FADS1

Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

Pena-Shokeir Syndrome Type 1

Fetal Akinesia Deformation Sequence Syndrome

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Pena-Shokeir Syndrome, Type I

Foetal Akinesia Deformation Sequence Syndrome

Foetal Akinesia Sequence

Fetal Akinesia Deformation Sequence Syndrome 1

Pena-Shokeir Syndrome, Type 1

Pena Shokeir Syndrome, Type 1

Akinesia, Fetal, Deformation Sequence

Akinesia, Fetal, Deformation Sequence, Type 1

Pena-Shokeir Syndrome Type I

Cranioectodermal Dysplasia 4

CED4

Sensenbrenner Syndrome 4

Dysplasia, Cranioectodermal, Type 4

Anterior Horn Cell Disease
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

Lethal Congenital Contracture Syndrome

Lccs

Lethal Congenital Contracture Syndrome 1

Polyhydramnios
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 NUP88 VGNC VGNC:75562
Felis catus NUP88 VGNC VGNC:68600
Mus musculus NUP88 MGD MGI:104900
Canis familiaris NUP88 VGNC VGNC:44061
Rattus norvegicus NUP88 RGD RGD:620182
Bos taurus NUP88 VGNC VGNC:32365