1. Gene
  2. NUP98 - nucleoporin 98 and 96 precursor Gene

NUP98 - nucleoporin 98 and 96 precursor Gene

中文名称:核孔蛋白 98 和 96 前体

种属: Homo sapiens

同用名: ADIR2; NUP96; NUP196; Nup98-96

基因 ID: 4928 | 基因类型: protein coding

关于 NUP98

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:3,675,010-3,797,554 (from NCBI)

This gene has 36 transcripts (splice variants), 224 orthologues and is associated with 84 phenotypes. Broad expression in testis (RPKM 38.3), bone marrow (RPKM 17.8) and 25 other tissues.

功能概要

核孔复合物 (NPC) 调节大分子在细胞核和细胞质之间的运输,由许多多肽亚基组成,其中许多属于核孔蛋白家族。该基因属于核孔蛋白基因家族,编码一个 186 kDa 的前体蛋白,该蛋白经过自身蛋白水解裂解生成 98 kDa 的核孔蛋白和 96 kDa 的核孔蛋白。 98 kDa 的核孔蛋白包含一个 Gly-Leu-Phe-Gly (GLGF) 重复结构域并参与许多细胞过程,包括核输入、核输出、有丝分裂进程和基因表达调节。 96 kDa 核孔蛋白是 NPC 的支架成分。蛋白水解切割对于将蛋白质靶向 NPC 很重要。已在不同的白血病中观察到该基因与许多其他伙伴基因之间的易位。重排通常会产生嵌合体,该基因的 N 端 GLGF 结构域连接到伴侣基因的 C 端。可变剪接导致编码不同亚型的多个转录物变体,其中至少两个被蛋白水解处理。一些变体缺少编码 96 kDa 核孔蛋白的区域。[RefSeq 提供,2016 年 2 月]

Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many Other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]

NUP98 基因产物(9)

mRNA Protein Name
NM_001365125.2 NP_001352054.1 nuclear pore complex protein Nup98-Nup96 isoform 5
NM_001365126.2 NP_001352055.1 nuclear pore complex protein Nup98-Nup96 isoform 6 precursor
NM_001365127.2 NP_001352056.1 nuclear pore complex protein Nup98-Nup96 isoform 7 precursor
NM_001365128.2 NP_001352057.1 nuclear pore complex protein Nup98-Nup96 isoform 8 precursor
NM_001365129.2 NP_001352058.1 nuclear pore complex protein Nup98-Nup96 isoform 9
NM_005387.7 NP_005378.4 nuclear pore complex protein Nup98 isoform 3 precursor
NM_016320.5 NP_057404.2 nuclear pore complex protein Nup98-Nup96 isoform 1 precursor
NM_139131.5 NP_624357.1 nuclear pore complex protein Nup98 isoform 2 precursor
NM_139132.4 NP_624358.2 nuclear pore complex protein Nup98-Nup96 isoform 4
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 mRNA binding IMP
IMP: 通过突变表型推断
28221134 GOA
enables molecular condensate scaffold activity IDA
IDA: 通过直接分析推断
25562883 GOA
enables promoter-specific chromatin binding IMP
IMP: 通过突变表型推断
28221134 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9348540 GOA
enables structural constituent of nuclear pore IMP
IMP: 通过突变表型推断
15229283 GOA
enables transcription coactivator activity IMP
IMP: 通过突变表型推断
28221134 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in nuclear pore complex assembly IMP
IMP: 通过突变表型推断
15229283 GOA
involved in positive regulation of mRNA splicing, via spliceosome IMP
IMP: 通过突变表型推断
28221134 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
15146057 GOA
located in nuclear body IDA
IDA: 通过直接分析推断
28221134 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
15146057 GOA
located in nuclear inclusion body IDA
IDA: 通过直接分析推断
11839768 GOA
located in nuclear membrane IDA
IDA: 通过直接分析推断
11839768 GOA
located in nuclear periphery IDA
IDA: 通过直接分析推断
11839768 GOA
part of nuclear pore IDA
IDA: 通过直接分析推断
9348540 GOA
part of nuclear pore nuclear basket IDA
IDA: 通过直接分析推断
11839768 GOA
part of nuclear pore outer ring IDA
IDA: 通过直接分析推断
17360435 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
28221134 GOA
part of ribonucleoprotein complex IMP
IMP: 通过突变表型推断
28221134 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

NUP98 蛋白结构

Nucleoporin2

Nucleoporin2: Nucleoporin autopeptidase (723 - 863)

Nup96

Nup96: Nuclear protein 96 (1312 - 1485)

Nup96

Nup96: Nuclear protein 96 (1484 - 1536)

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  • 1638 a.a.
蛋白主名 其他名称

nuclear pore complex protein Nup98-Nup96

nuclear pore complex protein Nup98

GLFG-repeat containing nucleoporin

NUP98 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
NUP98 P52948 ns6_sars2 SARS-CoV-2 P0DTC6 33097660
种属内
NUP98 P52948 RAE1 Homo sapiens P78406 20498086
种属内
NUP98 P52948 RAE1 Homo sapiens P78406
GMS
35096974
种属内
NUP98 P52948 RAE1 Homo sapiens P78406 20498086
种属内
NUP98 P52948 RAE1 Homo sapiens P78406 33097660
种属内
NUP98 P52948 RAE1 Homo sapiens P78406 20498086
种属内
NUP98 P52948 RAE1 Homo sapiens P78406
GMS
20498086
种属内
NUP98 P52948 RAE1 Homo sapiens P78406
ITC
35096974
种属间: 跨种属相互作用 种属内: 同种属相互作用

NUP98 抗体

目录号 产品名 应用 反应物种
HY-P81292 NUP98 Antibody (YA1010) WB, IP Human
HY-P81292A NUP98 Antibody (YA1011) WB Human

关联疾病

疾病名称 别名
Acute Megakaryoblastic Leukemia Without Down Syndrome

Non-Ds-Amkl

Childhood Acute Myeloid Leukemia

Childhood Acute Myeloid Leukaemia

Paediatric Acute Myeloid Leukaemia

Pediatric Acute Myeloid Leukemia

Myeloid Leukemia

Myeloid Leukaemia

Leukaemia Myelogenous

Leukemia Myelogenous

Myeloid Granulocytic Leukaemia

Myeloid Granulocytic Leukemia

Non-Lymphocytic Leukemia

Leukemia, Myeloid

Granulocytic Leukaemia

Myelogenous Leukaemia

Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Influenza

Flu

Influenza With Non-Respiratory Manifestation

Influenza With Other Manifestations

Influenza, Human

Influenza, Susceptibility To

Seasonal Influenza, Virus Identified

Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

Leukemia, Acute Monocytic

Acute Monocytic Leukemia

Acute Monoblastic Leukemia And Acute Monocytic Leukemia

Acute Monocytic Leukaemia

Acute Monocytic Leukaemia Without Mention Of Remission

Acute Monocytic Leukemia Without Mention Of Remission

Acute Monocytic Leukemia, Fab M5

Acute Monocytic Leukemia, Morphology

Leukemia, Monocytic, Acute

M5b Acute Differentiated Monocytic Leukemia

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Hematologic Cancer

Hematologic Neoplasm

Hematologic Neoplasms

Hematologic Malignancies

Blood Cancer

Hematologic Malignancy

Hematological Tumors

Hematopoietic And Lymphoid System Tumor

Hematopoietic Cancer

Hematopoietic Neoplasm

Hematopoietic Tumors

Malignant Hematopoietic Neoplasm

Liquid Tumor

Hematopoietic Neoplasms

Stomatitis
Acute Leukemia

Stem Cell Leukaemia

Stem Cell Leukemia

Acute Leukemias

Acute Undifferentiated Leukemia

Undifferentiated Leukemia

Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

Blast Cell Leukaemia

Blast Leukaemia

Blastic Leukaemia

Undifferentiated Leukaemia

Childhood Acute Megakaryoblastic Leukemia

Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia

Childhood Leukemia
Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia

Chronic Myelogenous Leukemia

CML

Chronic Granulocytic Leukemia

Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

Chronic Myeloid Leukaemia

Chronic Granulocytic Leukaemia

Chronic Myelogenous Leukaemia

Myeloid Leukemia, Chronic

Leukemia, Chronic Myelogenous

Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

Cml - Chronic Myelogenous Leukemia

Cgl

Chronic Myelocytic Leukemia

Leukemia, Chronic Myeloid, Atypical

ACML

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Myeloid Leukemia Chronic

Leukemia, Myeloid, Chronic

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Cml- [Chronic Myeloid Leukaemia]

Cgl - [Chronic Granulocytic Leukaemia]

Chronic Myelocytic Leukaemia

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

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Anterior Horn Cell Disease
Precursor T-Cell Acute Lymphoblastic Leukemia

T-All

Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

Precursor T-Cell Acute Lymphocytic Leukemia

Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Adult T-Cell Lymphoma/Leukemia

Sotos Syndrome

Cerebral Gigantism

SOTOS

Chromosome 5q35 Deletion Syndrome

Sotos Syndrome 1, Formerly

Sotos1, Formerly

Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

Sotos Sequence

Sotos' Syndrome

Sotos1

Sotos Syndrome 1

Acute Megakaryocytic Leukemia

Acute Megakaryoblastic Leukemia

Acute Megakaryoblastic Leukaemia

Megakaryocytic Myelosis

Thrombocytic Leukaemia

Amkl

Aml M7

Acute Myeloblastic Leukemia Type 7

Acute Myeloid Leukemia M7

Megakaryoblastic Leukemia Acute

Leukemia, Megakaryoblastic, Acute

Acute Myeloid Leukaemia, M7

Acute Megakaryocytic Leukaemia

Acute Megakaryoblastic Leukaemia, Fab M7

Fab M7

Malignant Megakaryocytosis

M7 - Acute Megakaryoblastic Leukaemia

Megakaryoblastic Leukaemia

Megakaryocytic Leukaemia

Acute Megakaryoblastic Leukaemia, Nos

Acute Megakaryoblastic Leukaemia Without Mention Of Remission

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic

JMML

Leukemia, Juvenile Myelomonocytic, Somatic

Juvenile Chronic Myelomonocytic Leukemia

Juvenile Chronic Myelogenous Leukemia

Leukemia, Myelomonocytic, Juvenile

Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Weaver Syndrome

Wss

Weaver-Smith Syndrome

WVS

Weaver-Like Syndrome

Weaver-Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies Syndrome

Camptodactyly - Overgrowth - Unusual Facies

Ezh2 Related Overgrowth

Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

Weaver Smith Syndrome

Weaver Like Syndrome

Weaver Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies

Weaver Syndrome 1

Weaver Syndrome 2

Wvs1

Wvs2

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

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 NUP98 VGNC VGNC:32367
Felis catus NUP98 VGNC VGNC:68601
Canis familiaris NUP98 VGNC VGNC:44063
Mus musculus NUP98 MGD MGI:109404
Macaca mulatta NUP98 VGNC VGNC:75563
Rattus norvegicus NUP98 RGD RGD:71033