NUP155 nucleoporin 155 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUP155provided by HGNC
Official Full Name: nucleoporin 155provided by HGNC
Primary source: HGNC:HGNC:8063
See related: Ensembl:ENSG00000113569 MIM:606694; AllianceGenome:HGNC:8063
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: N155; ATFB15
Summary: Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]
Expression: Broad expression in testis (RPKM 44.4), bone marrow (RPKM 5.5) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p13.2

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (37288137..37371106, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (37537942..37620915, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (37288239..37371208, complement)

Chromosome 5 - NC_000005.10 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?

lamin A/C mutation p.Arg399Cys weakens the interaction between nuclear lamina (lamin A/C) and the nuclear pore complex (NUP155), leading to the development of atrial fibrillation.
Title: Lamin A mutation impairs interaction with nucleoporin NUP155 and disrupts nucleocytoplasmic transport in atrial fibrillation.
Study revealed that NUP155 controls mRNA translation CDKN1A, a key mediator of the p53 response.
Title: Nucleoporin Nup155 is part of the p53 network in liver cancer.
The Nup155-mediated localization was required for HDAC4's effect on gene expression.
Title: Modulation of chromatin position and gene expression by HDAC4 interaction with nucleoporins.
The Nup155 depletion massively alters nuclear envelope structure, causing a dramatic decrease in Nuclear pore complexes numbers and the improper targeting of membrane proteins to the inner nuclear membrane.
Title: Pom121 links two essential subcomplexes of the nuclear pore complex core to the membrane.
These human and mouse studies indicate that loss of NUP155 function causes atrial fibrillation by altering mRNA and protein transport and link the nuclear pore complex to cardiovascular disease.
Title: Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Atrial fibrillation, familial, 15 MedGen: C4014269 OMIM: 615770 GeneReviews: Not available	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 155kDa (NUP155) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed
Knockdown of nucleoporin 155kDa (NUP155) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify 155kDa nucleoporin (NUP155), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify 155kDa nucleoporin (NUP155), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify 155kDa nucleoporin (NUP155), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify 155kDa nucleoporin (NUP155), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
capsid	gag	HIV-1 N74D CA mutant requires NUP155 for the nuclear import of HIV-1 PICs	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

MARC_21512-21513:1032982746:3 (e-PCR)
- UniSTS:268564

D5S2023 (e-PCR)
- UniSTS:44312

D5S1903 (e-PCR)
- UniSTS:67393

SHGC-110804 (e-PCR)
- UniSTS:184008

Homology

Homologs of the NUP155 gene: The NUP155 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 495 organisms have orthologs with human gene NUP155
Orthologs

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	PubMed

Process	Evidence Code	Pubs
involved_in RNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in atrial cardiac muscle cell action potential	IEA Inferred from Electronic Annotation more info
involved_in mRNA export from nucleus	IEA Inferred from Electronic Annotation more info
involved_in miRNA processing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within nuclear envelope organization	IDA Inferred from Direct Assay more info	PubMed
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	PubMed
involved_in protein localization to nuclear inner membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
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
part_of nuclear pore	NAS Non-traceable Author Statement more info	PubMed
part_of nuclear pore inner ring	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: nuclear pore complex protein Nup155

Names: 155 kDa nucleoporin; nucleoporin 155kD; nucleoporin 155kDa

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_034131.2 RefSeqGene

Range

5000..87969

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278312.2 → NP_001265241.1 nuclear pore complex protein Nup155 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. It encodes isoform 3 which lacks an internal segment and is shorter, compared to isoform 1.

Source sequence(s)

AC025449, AI037962, AK297143, AK315028, BM478072, BQ435836, DC401967

Consensus CDS

CCDS64142.1

UniProtKB/TrEMBL

B4DLT2, E9PF10

Related

ENSP00000422019.1, ENST00000513532.1

Conserved Domains (2) summary

pfam03177
Location:944 → 1149

Nucleoporin_C; Non-repetitive/WGA-negative nucleoporin C-terminal

pfam08801
Location:77 → 507

Nucleoporin_N; Nup133 N terminal like
NM_004298.4 → NP_004289.1 nuclear pore complex protein Nup155 isoform 2

See identical proteins and their annotated locations for NP_004289.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AB018334, AC025449, AI037962, BC039257, BM478072, BQ435836, DA249538, DC401967

Consensus CDS

CCDS43310.1

UniProtKB/Swiss-Prot

O75694

Related

ENSP00000371265.2, ENST00000381843.6

Conserved Domains (2) summary

pfam03177
Location:773 → 1154

Nucleoporin_C; Non-repetitive/WGA-negative nucleoporin C-terminal

pfam08801
Location:18 → 448

Nucleoporin_N; Nup133 N terminal like
NM_153485.3 → NP_705618.1 nuclear pore complex protein Nup155 isoform 1

See identical proteins and their annotated locations for NP_705618.1

Status: REVIEWED

Description

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

Source sequence(s)

AC025449, AI037962, BC039257, BM478072, BQ435836, DC401967

Consensus CDS

CCDS3921.1

UniProtKB/Swiss-Prot

O75694, Q9UFL5

UniProtKB/TrEMBL

A0A024R071

Related

ENSP00000231498.3, ENST00000231498.8

Conserved Domains (2) summary

COG5308
Location:89 → 1311

NUP170; Nuclear pore complex subunit [Intracellular trafficking and secretion]

pfam08801
Location:77 → 507

Nucleoporin_N; Nup133 N terminal like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

37288137..37371106 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047417934.1 → XP_047273890.1 nuclear pore complex protein Nup155 isoform X1
XM_011514165.4 → XP_011512467.1 nuclear pore complex protein Nup155 isoform X2

Conserved Domains (1) summary

pfam08801
Location:77 → 507

Nucleoporin_N; Nup133 N terminal like
XM_047417935.1 → XP_047273891.1 nuclear pore complex protein Nup155 isoform X3