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NUP133 - nucleoporin 133 Gene

Also Known as GAMOS8; NPHS18; hNUP133

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55746

About NUP133

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:229,440,259-229,508,341 (from NCBI)

This gene has 4 transcripts (splice variants), 207 orthologues and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 11.8), brain (RPKM 11.8) and 25 other tissues.

Summary

The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with Other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during Mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]

NUP133 Products (1)

mRNA	Protein	Name
NM_018230.3	NP_060700.2	nuclear pore complex protein Nup133

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11564755	GOA
enables structural constituent of nuclear pore	IDA IDA: Inferred from direct assay	11684705	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mRNA export from nucleus	IDA IDA: Inferred from direct assay	11684705	GOA
involved in nephron development	IMP IMP: Inferred from mutant phenotype	30179222	GOA
involved in nuclear pore organization	IMP IMP: Inferred from mutant phenotype	15146057	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with kinetochore	IDA IDA: Inferred from direct assay	17098863	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	24315095	GOA
part of nuclear pore	IDA IDA: Inferred from direct assay	11564755	GOA
part of nuclear pore outer ring	IDA IDA: Inferred from direct assay	15146057	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

NUP133 Protein Structure

Nucleoporin_N

Nucleoporin_C

0
200
400
600
800
1000
1156 a.a.

Protein Preferred Names	Protein Names
nuclear pore complex protein Nup133	133 kDa nucleoporin

NUP133 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	NUP133	Q8WUM0	NUP85	Saccharomyces cerevisiae	P46673	Y2H Array	27194810
Cross	NUP133	Q8WUM0	NUP85	Saccharomyces cerevisiae	P46673	MST	27194810
Intra	NUP133	Q8WUM0	NUP107	Homo sapiens	P57740	Anti Bait CoIP	17363900
Intra	NUP133	Q8WUM0	NUP107	Homo sapiens	P57740	Anti Tag CoIP	30179222
Intra	NUP133	Q8WUM0	NUP107	Homo sapiens	P57740	Y2H	11564755
Intra	NUP133	Q8WUM0	NUP107	Homo sapiens	P57740	Anti Tag CoIP	33961781
Intra	NUP133	Q8WUM0	NUP107	Homo sapiens	P57740	Y2H Array	27194810
Intra	NUP133	Q8WUM0	NUP107	Homo sapiens	P57740	CoIP	11564755
Intra	NUP133	Q8WUM0	NUP107	Homo sapiens	P57740	BiFC	27194810
Intra	NUP133	Q8WUM0	LRRK2	Homo sapiens	Q5S007	Protein Array	24947832
Intra	NUP133	Q8WUM0	NUP85	Homo sapiens	Q9BW27	Anti Tag CoIP	33961781
Intra	NUP133	Q8WUM0	NUP85	Homo sapiens	Q9BW27	BiFC	27194810
Intra	NUP133	Q8WUM0	CENPF	Homo sapiens	P49454	Y2H	17363900

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Galloway-Mowat Syndrome 8	GAMOS8
Nephrotic Syndrome, Type 18	NPHS18 Nephrotic Syndrome Type 18 Nephrotic Syndrome 18
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
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
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
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
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Autoimmune Lymphoproliferative Syndrome	ALPS Canale-Smith Syndrome Autoimmune Lymphoproliferative Syndrome, Type Ia Autoimmune Lymphoproliferative Syndrome, Type Ib Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant Css Autoimmune Lymphoproliferative Syndrome, Type 1b Autoimmune Lymphoproliferative Syndrome, Type 1a Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant Fas Deficiency Autoimmune Lymphoproliferative Syndrome 1a ALPS1A Autoimmune Lymphoproliferative Syndrome Type Ia Autoimmune Lymphoproliferative Syndrome 1b ALPS1B Autoimmune Lymphoproliferative Syndrome Type Ib
Polymicrogyria	Pmg
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09684	NUP133 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NUP133	VGNC	VGNC:75428
Mus musculus	NUP133	MGD	MGI:2442620
Felis catus	NUP133	VGNC	VGNC:63919
Bos taurus	NUP133	VGNC	VGNC:32351
Canis familiaris	NUP133	VGNC	VGNC:44045
Rattus norvegicus	NUP133	RGD	RGD:1307827
Others	NUP133	NCBI