NUP160 nucleoporin 160 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUP160provided by HGNC
Official Full Name: nucleoporin 160provided by HGNC
Primary source: HGNC:HGNC:18017
See related: Ensembl:ENSG00000030066 MIM:607614; AllianceGenome:HGNC:18017
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NPHS19
Summary: A structural constituent of nuclear pore. Involved in mRNA export from nucleus and nephron development. Located in kinetochore. Part of nuclear pore outer ring. Implicated in nephrotic syndrome type 19. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in lymph node (RPKM 10.0), appendix (RPKM 9.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (47778118..47848544, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (47943085..48013487, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (47799670..47870096, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.
Title: Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.
Role and Mechanism of NUP160-regulated Autophagy in Pathogenesis of Diabetic Nephropathy.
Title: Role and Mechanism of NUP160-regulated Autophagy in Pathogenesis of Diabetic Nephropathy.
Nup107-160 complex and its partner Elys dynamically colocalize with Nup98 and CRM1 into endogenous GLFG bodies present in specific HeLa sublines.
Title: Intranuclear dynamics of the Nup107-160 complex.
transcriptome sequencing of patient-derived angiosarcoma cells, identified a novel fusion gene NUP160-SLC43A3 found to be expressed in 9 of 25 human angiosarcoma specimens that were examined.
Title: NUP160-SLC43A3 is a novel recurrent fusion oncogene in angiosarcoma.
The SUMO-specific isopeptidase SENP2 associates dynamically with nuclear pore complexes through interactions with karyopherins and the Nup107-160 nucleoporin subcomplex.
Title: The SUMO-specific isopeptidase SENP2 associates dynamically with nuclear pore complexes through interactions with karyopherins and the Nup107-160 nucleoporin subcomplex.
The interactions of Nup160 with Pom121 and are predicted to assist in the formation of the nuclear pore and the anchoring of the Nuclear pore complexes to the pore membrane.
Title: Pom121 links two essential subcomplexes of the nuclear pore complex core to the membrane.
A major function of the Nup107 complex in mitosis is to ensure the proper localization of the chromosome passenger complex at the centromere.
Title: The Nup107-160 nucleoporin complex promotes mitotic events via control of the localization state of the chromosome passenger complex.
Data show that Nup107-160 promotes spindle assembly through Ran-GTP-regulated nucleation of microtubules by gamma-TuRC at kinetochores, and reveal a relationship between nucleoporins and the microtubule cytoskeleton.
Title: The Nup107-160 complex and gamma-TuRC regulate microtubule polymerization at kinetochores.
Data show that structure-guided sequence comparison of Nup160 and Saccharomyces cerevisiae Nup120 strongly suggests that both proteins adopt the same unique fold despite a low sequence identity of 10%.
Title: The structure of the scaffold nucleoporin Nup120 reveals a new and unexpected domain architecture.
These data thus provide the first molecular clues underlying the function of the human Nup107-160 complex at kinetochores.
Title: The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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
Nephrotic syndrome, type 19 MedGen: C4748552 OMIM: 618178 GeneReviews: Genetic Steroid-Resistant Nephrotic Syndrome Overview	Compare labs

EBI GWAS Catalog

Description
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. EBI GWAS Catalog EBI GWAS CatalogPubMed

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 160kDa (NUP160) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	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

STS-Z40067 (e-PCR)
- UniSTS:33841

RH118738 (e-PCR)
- UniSTS:138042

RH91838 (e-PCR)
- UniSTS:84870

RH71446 (e-PCR)
- UniSTS:84882

NUP160_3793 (e-PCR)
- UniSTS:466364

RH25410 (e-PCR)
- UniSTS:90084

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 nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation 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 nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	TAS Traceable Author Statement more info
part_of nuclear pore	IBA Inferred from Biological aspect of Ancestor 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	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 Nup160

Names: 160 kDa nucleoporin; nucleoporin 160kD; nucleoporin 160kDa; nucleoporin Nup160

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.

mRNA and Protein(s)

NM_001318399.1 → NP_001305328.1 nuclear pore complex protein Nup160 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AK026236, BC009822, BI559779

Consensus CDS

CCDS81567.1

UniProtKB/TrEMBL

A0A8Q3WK58

Related

ENSP00000431495.1, ENST00000526870.1

Conserved Domains (1) summary

pfam11715
Location:62 → 175

Nup160; Nucleoporin Nup120/160
NM_015231.3 → NP_056046.2 nuclear pore complex protein Nup160 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC021443, AC023232

Consensus CDS

CCDS31484.2

UniProtKB/Swiss-Prot

B4DYE8, B4E2J9, Q08AD3, Q12769, Q7Z5X6, Q96GB3, Q9H660

UniProtKB/TrEMBL

A0A8V8NBT1

Related

ENSP00000367721.3, ENST00000378460.7

RNA

NR_134636.3 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice junction in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC021443, AC023232