NUP93 nucleoporin 93 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUP93provided by HGNC
Official Full Name: nucleoporin 93provided by HGNC
Primary source: HGNC:HGNC:28958
See related: Ensembl:ENSG00000102900 MIM:614351; AllianceGenome:HGNC:28958
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: NIC96
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]
Expression: Broad expression in testis (RPKM 20.8), thyroid (RPKM 10.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q13

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (56730129..56850286)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (62525082..62646588)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (56764041..56884198)

Chromosome 16 - NC_000016.10 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
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?

Transcription Factor yin-Yang 1 augments nucleoporin 93 oncogene activity and modulates bladder Cancer malignancy.
Title: Transcription Factor yin-Yang 1 augments nucleoporin 93 oncogene activity and modulates bladder Cancer malignancy.
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.
Nucleoporin93 limits Yap activity to prevent endothelial cell senescence.
Title: Nucleoporin93 limits Yap activity to prevent endothelial cell senescence.
Nucleoporin 93, a new substrate of the E3 ubiquitin protein ligase HECTD1, promotes esophageal squamous cell carcinoma progression.
Title: Nucleoporin 93, a new substrate of the E3 ubiquitin protein ligase HECTD1, promotes esophageal squamous cell carcinoma progression.
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Title: Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Nucleoporin-93 reveals a common feature of aggressive breast cancers: robust nucleocytoplasmic transport of transcription factors.
Title: Nucleoporin-93 reveals a common feature of aggressive breast cancers: robust nucleocytoplasmic transport of transcription factors.
Nucleoporin 93 mediates beta-catenin nuclear import to promote hepatocellular carcinoma progression and metastasis.
Title: Nucleoporin 93 mediates β-catenin nuclear import to promote hepatocellular carcinoma progression and metastasis.
Nup93 and CTCF modulate spatiotemporal dynamics and function of the HOXA gene locus during differentiation.
Title: Nup93 and CTCF modulate spatiotemporal dynamics and function of the HOXA gene locus during differentiation.
Molecular and structural analysis of central transport channel in complex with Nup93 of nuclear pore complex.
Title: Molecular and structural analysis of central transport channel in complex with Nup93 of nuclear pore complex.
Nup93 regulates breast tumor growth by modulating cell proliferation and actin cytoskeleton remodeling.
Title: Nup93 regulates breast tumor growth by modulating cell proliferation and actin cytoskeleton remodeling.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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 12 MedGen: C4225166 OMIM: 616892 GeneReviews: Genetic Steroid-Resistant Nephrotic Syndrome Overview	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of a quantitative disordered gambling trait. EBI GWAS Catalog EBI GWAS CatalogPubMed
Polymorphism in the CETP gene region, HDL cholesterol, and risk of future myocardial infarction: Genomewide analysis among 18 245 initially healthy women from the Women's Genome Health Study. 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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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Interaction of HIV-1 Tat with Nup93 in T-cells is identified by a proteomic strategy based on affinity chromatography	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

SHGC-24014 (e-PCR)
- UniSTS:99865

SHGC-58086 (e-PCR)
- UniSTS:67904

SHGC-79844 (e-PCR)
- UniSTS:101987

SHGC-35816 (e-PCR)
- UniSTS:30835

MARC_17957-17958:1024499204:3 (e-PCR)
- UniSTS:268447

RH65675 (e-PCR)
- UniSTS:47799

RH25323 (e-PCR)
- UniSTS:84435

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	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in nuclear envelope organization	IDA Inferred from Direct Assay more info	PubMed
involved_in nuclear pore complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in nuclear pore complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed
involved_in poly(A)+ mRNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
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	PubMed
located_in nuclear periphery	IDA Inferred from Direct Assay more info	PubMed
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

General protein information

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Preferred Names: nuclear pore complex protein Nup93

Names: 93 kDa nucleoporin; nucleoporin 93kDa; nucleoporin Nup93

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.

Genomic

NG_052904.2 RefSeqGene

Range

5002..125159

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001242795.2 → NP_001229724.1 nuclear pore complex protein Nup93 isoform 2

See identical proteins and their annotated locations for NP_001229724.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has a distinct 5' end which results in the use of an in-frame downstream start codon, compared to variant 1, and a protein (isoform 2) with a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same protein.

Source sequence(s)

AC012181, AK056637, AK294176, DA495676, DA531475

Consensus CDS

CCDS55996.1

UniProtKB/TrEMBL

A8K897

Related

ENSP00000458039.1, ENST00000564887.5

Conserved Domains (1) summary

pfam04097
Location:97 → 679

Nic96; Nup93/Nic96
NM_001242796.2 → NP_001229725.1 nuclear pore complex protein Nup93 isoform 2

See identical proteins and their annotated locations for NP_001229725.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has a distinct 5' end which results in the use of an in-frame downstream start codon, compared to variant 1, and a protein (isoform 2) with a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same protein.

Source sequence(s)

AK294176, DA495676

Consensus CDS

CCDS55996.1

UniProtKB/TrEMBL

A8K897

Related

ENSP00000440235.1, ENST00000542526.5

Conserved Domains (1) summary

pfam04097
Location:97 → 679

Nic96; Nup93/Nic96
NM_014669.5 → NP_055484.3 nuclear pore complex protein Nup93 isoform 1

See identical proteins and their annotated locations for NP_055484.3

Status: REVIEWED

Description

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

Source sequence(s)

AC012181, AK294176, BC034346, DA495676, DA587787

Consensus CDS

CCDS10769.1

UniProtKB/Swiss-Prot

B3KPQ8, Q14705, Q8N1F7

UniProtKB/TrEMBL

A8K897

Related

ENSP00000310668.5, ENST00000308159.10

Conserved Domains (1) summary

pfam04097
Location:220 → 802

Nic96; Nup93/Nic96