NUP98 - nucleoporin 98 and 96 precursor Gene

Also Known as ADIR2; NUP96; NUP196; Nup98-96

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4928

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables mRNA binding	IMP IMP: Inferred from mutant phenotype	28221134	GOA
enables molecular condensate scaffold activity	IDA IDA: Inferred from direct assay	25562883	GOA
enables promoter-specific chromatin binding	IMP IMP: Inferred from mutant phenotype	28221134	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9348540	GOA
enables structural constituent of nuclear pore	IMP IMP: Inferred from mutant phenotype	15229283	GOA
enables transcription coactivator activity	IMP IMP: Inferred from mutant phenotype	28221134	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in nuclear pore complex assembly	IMP IMP: Inferred from mutant phenotype	15229283	GOA
involved in positive regulation of mRNA splicing, via spliceosome	IMP IMP: Inferred from mutant phenotype	28221134	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with kinetochore	IDA IDA: Inferred from direct assay	15146057	GOA
located in nuclear body	IDA IDA: Inferred from direct assay	28221134	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	15146057	GOA
located in nuclear inclusion body	IDA IDA: Inferred from direct assay	11839768	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	11839768	GOA
located in nuclear periphery	IDA IDA: Inferred from direct assay	11839768	GOA
part of nuclear pore	IDA IDA: Inferred from direct assay	9348540	GOA
part of nuclear pore nuclear basket	IDA IDA: Inferred from direct assay	11839768	GOA
part of nuclear pore outer ring	IDA IDA: Inferred from direct assay	17360435	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	28221134	GOA
part of ribonucleoprotein complex	IMP IMP: Inferred from mutant phenotype	28221134	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NUP98 Protein Structure

Nucleoporin2

Nup96

0
300
600
900
1200
1500
1638 a.a.

Protein Preferred Names	Protein Names
nuclear pore complex protein Nup98-Nup96 nuclear pore complex protein Nup98	GLFG-repeat containing nucleoporin

Protein Preferred Names

Protein Names

nuclear pore complex protein Nup98-Nup96

nuclear pore complex protein Nup98

GLFG-repeat containing nucleoporin

NUP98 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	NUP98	P52948	ns6_sars2	SARS-CoV-2	P0DTC6	Anti Bait CoIP	33097660
Intra	NUP98	P52948	RAE1	Homo sapiens	P78406	X-Ray Diffraction	20498086
Intra	NUP98	P52948	RAE1	Homo sapiens	P78406	GMS	35096974
Intra	NUP98	P52948	RAE1	Homo sapiens	P78406	Solution Sedimentation	20498086
Intra	NUP98	P52948	RAE1	Homo sapiens	P78406	Anti Bait CoIP	33097660
Intra	NUP98	P52948	RAE1	Homo sapiens	P78406	Pull Down	20498086
Intra	NUP98	P52948	RAE1	Homo sapiens	P78406	GMS	20498086
Intra	NUP98	P52948	RAE1	Homo sapiens	P78406	ITC	35096974

Cross: Cross-species interaction Intra: Intraspecies interaction

NUP98 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81292	NUP98 Antibody (YA1010)	WB, IP	Human
HY-P81292A	NUP98 Antibody (YA1011)	WB	Human
HY-P81292AA	NUP98 Antibody (YA1011)(PBS only)	WB	Human
HY-P84386	NUP98 Antibody (YA4083)	WB, ICC/IF, FC, ELISA	Human, Monkey
HY-P84386A	NUP98 Antibody (YA4083)(PBS only)	WB, ICC/IF, FC, ELISA	Human, Monkey
HY-P85446	NUP98 Antibody (YA5138)	WB	Human, Mouse, Dog
HY-P85549	NUP98 Antibody (YA5241)	WB, IP	Human

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-119264	PRLX-93936		98.31%	Phase 2

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-170430	HGC652	Ligand	98.86%	Unkown
HY-119264A	PRLX-93936 dihydrochloride		99.83%	Unkown
HY-169325	(S)-ACE-OH		99.17%	Unkown
HY-180654A	JWZ-8-103 hydrochloride	Modulator	99.93%	Unkown
HY-180654	JWZ-8-103	Modulator	98.04%	Unkown
HY-141878	di-Ellipticine-RIBOTAC		/	Unkown
HY-141878A	di-Ellipticine-RIBOTAC TFA		/	Unkown
HY-RS09701	NUP98 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	NUP98	NCBI