NUP88 nucleoporin 88 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUP88provided by HGNC
Official Full Name: nucleoporin 88provided by HGNC
Primary source: HGNC:HGNC:8067
See related: Ensembl:ENSG00000108559 MIM:602552; AllianceGenome:HGNC:8067
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: FADS4
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, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
Expression: Ubiquitous expression in testis (RPKM 25.7), lymph node (RPKM 15.5) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 17p13.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (5384833..5419662, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (5278570..5313398, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (5288153..5322982, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpression of the nucleoporin Nup88 stimulates migration and invasion of HeLa cells.
Title: Overexpression of the nucleoporin Nup88 stimulates migration and invasion of HeLa cells.
Loss of Nup88 inhibited nuclear export of recombination signal-binding protein for immunoglobulin kappaJ region (RBP-J), the DNA-binding component of the Notch pathway.
Title: The nuclear pore proteins Nup88/214 and T-cell acute lymphatic leukemia-associated NUP214 fusion proteins regulate Notch signaling.
Here we report biallelic mutations in the nucleoporin NUP88 as a novel cause of lethal fetal akinesia deformation sequence (FADS) in two families. We demonstrate that NUP88 depletion affects rapsyn, a key regulator of the muscle nicotinic acetylcholine receptor at the neuromuscular junction.
Title: Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
Study in HeLa cells revealed that Nup88 can affect the phosphorylation status of vimentin, which may contribute to the Nup88-dependent multinucleated phenotype through changing the organization of vimentin.
Title: The role of vimentin in the tumor marker Nup88-dependent multinucleated phenotype.
Overexpression of the NUP88 is associated with cancer.
Title: Multiple biological processes may be associated with tumorigenesis under NUP88-overexpressed condition.
Nup88 may be related to the occurrence of endometrial cancers and premalignant lesions
Title: Can Nup88 expression be associated with atypical endometrial hyperplasia and endometrial cancer? A preliminary study.
These findings demonstrate that the NUP88-NUP98-RAE1-APC/CCDH1 axis contributes to aneuploidy
Title: Nuclear pore protein NUP88 activates anaphase-promoting complex to promote aneuploidy.
Nup62 and Nup88 protein levels were significantly decreased upon knockdown of O-GlcNAc transferase.
Title: Quantitative regulation of nuclear pore complex proteins by O-GlcNAcylation.
Serum Nup88 might be a candidate for a new biomarker implicated in the development and aggressiveness of colorectal cancer
Title: Increased serum level of Nup88 protein is associated with the development of colorectal cancer.
Nup88 mRNA was overexpressed in colorectal cancers and the overexpression was associated with cancer development and aggressiveness.
Title: Nup88 mRNA overexpression in colorectal cancers and relationship with p53.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

Go to the top of the page Help

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
Fetal akinesia deformation sequence 4 MedGen: C4760578 OMIM: 618393 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Interaction of HIV-1 Tat with Nup88 in T-cells is identified by a proteomic strategy based on affinity chromatography	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-33286 (e-PCR)
- UniSTS:23354

G42908 (e-PCR)
- UniSTS:94817

WI-12233 (e-PCR)
- UniSTS:76132

G59307 (e-PCR)
- UniSTS:136622

D15S629E (e-PCR)
- UniSTS:149968

WI-18700 (e-PCR)
- UniSTS:52698

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	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in mRNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed
involved_in protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosomal large subunit export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosomal small subunit export from nucleus	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear envelope	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
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

Go to the top of the page Help

Preferred Names: nuclear pore complex protein Nup88

Names: karyoporin; nuclear pore complex protein 88; nucleoporin 88kDa; nucleoporin Nup88

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001320653.2 → NP_001307582.1 nuclear pore complex protein Nup88 isoform 1

Status: REVIEWED

Description

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

Source sequence(s)

AC004148, AK298158, AW089098, BC000335, BQ937933, BX956129, CX870338

Consensus CDS

CCDS92236.1

UniProtKB/TrEMBL

A0A8V8TPT0, J3KMX1

Related

ENSP00000225696.5, ENST00000225696.9

Conserved Domains (2) summary

pfam10168
Location:14 → 756

Nup88; Nuclear pore component

cl23943
Location:596 → 660

PCRF; PCRF domain
NM_002532.6 → NP_002523.2 nuclear pore complex protein Nup88 isoform 2

See identical proteins and their annotated locations for NP_002523.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC004148, AW089098, BC000335, BQ937933, BX956129, CX870338

Consensus CDS

CCDS11070.1

UniProtKB/Swiss-Prot

D3DTM2, Q99567, Q9BWE5

UniProtKB/TrEMBL

A0A8V8TPT0

Related

ENSP00000458954.1, ENST00000573584.6

Conserved Domains (1) summary

pfam10168
Location:14 → 740

Nup88; Nuclear pore component