NUP93 - nucleoporin 93 Gene

Homo sapiens

Also known as NIC96

Gene ID: 9688 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26878725	GOA
enables structural constituent of nuclear pore	IMP IMP: Inferred from mutant phenotype	15229283	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in nuclear envelope organization	IDA IDA: Inferred from direct assay	26878725	GOA
involved in nuclear pore complex assembly	IDA IDA: Inferred from direct assay	26878725	GOA
involved in nuclear pore complex assembly	IMP IMP: Inferred from mutant phenotype	15229283	GOA
involved in positive regulation of SMAD protein signal transduction	IDA IDA: Inferred from direct assay	26878725	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nuclear envelope	IDA IDA: Inferred from direct assay	24315095	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	15229283	GOA
located in nuclear periphery	IDA IDA: Inferred from direct assay	15229283	GOA
part of nuclear pore	IDA IDA: Inferred from direct assay	12802065	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

NUP93 Protein Structure

Nic96

0
200
400
600
819 a.a.

Protein Preferred Names

Protein Names

nuclear pore complex protein Nup93

93 kDa nucleoporin

NUP93 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NUP93	Q8N1F7	TMEM100	Homo sapiens	Q9NV29	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09700	NUP93 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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