NUP133 nucleoporin 133 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUP133provided by HGNC
Official Full Name: nucleoporin 133provided by HGNC
Primary source: HGNC:HGNC:18016
See related: Ensembl:ENSG00000069248 MIM:607613; AllianceGenome:HGNC:18016
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GAMOS8; NPHS18; hNUP133
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]
Expression: Ubiquitous expression in testis (RPKM 11.8), brain (RPKM 11.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.13

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (229440259..229508341, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (228818956..228887101, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (229576006..229644088, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Steroid-resistant nephrotic syndrome caused by nuclear pore gene NUP133 variation.
Title: Steroid-resistant nephrotic syndrome caused by nuclear pore gene NUP133 variation.
NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes.
Title: NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes.
These data of this study indicated that the biallelic NUP133 loss-of-function mutation causes Galloway-Mowat syndrome.
Title: Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
Nup133 effectively assembled Nup107 and ELYS of the nuclear pore complex at the end of the mitosis.
Title: Roles of Nup133, Nup153 and membrane fenestrations in assembly of the nuclear pore complex at the end of mitosis.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Data present crystal structures of yNup170(979-1502) and hNup107(658-925) x hNup133(517-1156), and conservation of domain arrangement and of tertiary structure suggests that Nup157/170 and Nup133 derived from a common ancestor.
Title: Architectural nucleoporins Nup157/170 and Nup133 are structurally related and descend from a second ancestral element.
The significant topological differences between Nup107 and Nup133 suggest that helical nucleoporin domains of the nuclear pore complex scaffold fall in different classes and fulfill largely nonredundant functions.
Title: Structural and functional studies of Nup107/Nup133 interaction and its implications for the architecture of the nuclear pore complex.
When complexed with NUP107, this complex will give the first insights into the protein-protein interactions within a core module of the nuclear pore complex.
Title: Purification, crystallization and preliminary X-ray analysis of a Nup107-Nup133 heterodimeric nucleoporin complex.
human Nup133 contains two domains: a COOH-terminal domain responsible for its interaction with its subcomplex through Nup107; and an NH2-terminal domain whose crystal structure reveals a seven-bladed beta-propeller.
Title: Structural and functional analysis of Nup133 domains reveals modular building blocks of the nuclear pore complex.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Galloway-Mowat syndrome 8 MedGen: C5193045 OMIM: 618349 GeneReviews: Not available	Compare labs
Nephrotic syndrome, type 18 MedGen: C4748549 OMIM: 618177 GeneReviews: Genetic Steroid-Resistant Nephrotic Syndrome Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of nucleoporin 133kDa (NUP133) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Mermaid (NUP133) shares glycan specificity with DC-SIGN and inhibits the interaction between DC-SIGN and HIV-1 gp120	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with NUP133	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:23130

AL009816 (e-PCR)
- UniSTS:72047

WI-15719 (e-PCR)
- UniSTS:76659

WI-11389 (e-PCR)
- UniSTS:72316

RH11940 (e-PCR)
- UniSTS:72317

SHGC-35003 (e-PCR)
- UniSTS:35990

RH12639 (e-PCR)
- UniSTS:7832

WI-10134 (e-PCR)
- UniSTS:9199

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of nuclear pore	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of nuclear pore	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA export from nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in nephron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube development	IEA Inferred from Electronic Annotation more info
involved_in neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in nuclear pore organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed
involved_in paraxial mesoderm development	IEA Inferred from Electronic Annotation more info
involved_in poly(A)+ mRNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in somite development	IEA Inferred from Electronic Annotation more info
involved_in transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
colocalizes_with kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	TAS Traceable Author Statement more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
part_of nuclear pore	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear pore	NAS Non-traceable Author Statement more info	PubMed
part_of nuclear pore outer ring	IBA Inferred from Biological aspect of Ancestor more info
part_of nuclear pore outer ring	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear pore outer ring	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: nuclear pore complex protein Nup133

Names: 133 kDa nucleoporin; nucleoporin 133kD; nucleoporin 133kDa; nucleoporin Nup133

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.