NUP133 - nucleoporin 133 Gene

Homo sapiens

Also known as GAMOS8; NPHS18; hNUP133

Gene ID: 55746 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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