NUP85 nucleoporin 85 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUP85provided by HGNC
Official Full Name: nucleoporin 85provided by HGNC
Primary source: HGNC:HGNC:8734
See related: Ensembl:ENSG00000125450 MIM:170285; AllianceGenome:HGNC:8734
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: Nup75; FROUNT; NPHS17
Summary: This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Expression: Ubiquitous expression in lymph node (RPKM 9.1), testis (RPKM 9.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (75205679..75235758)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (76097807..76127836)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (73201774..73231853)

Chromosome 17 - NC_000017.11 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 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?

[Analysis of correlation between high expression of nucleoporin 85 (NUP85) and immune cell infiltration in hepatocellular carcinoma].
Title: [Analysis of correlation between high expression of nucleoporin 85 (NUP85) and immune cell infiltration in hepatocellular carcinoma].
NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.
Title: NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Title: Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
the chemokine signal regulator FROUNT is identified as a target to control tumor-associated macrophages.
Title: Targeting FROUNT with disulfiram suppresses macrophage accumulation and its tumor-promoting properties.
results support a model of CCR2 equilibrium: chemokine binding changes the conformational equilibrium of CCR2 toward the active state, and Pro-C switches its binding partner from the membrane to FROUNT
Title: Structural basis for the binding of the membrane-proximal C-terminal region of chemokine receptor CCR2 with the cytosolic regulator FROUNT.
Residues on the hydrophobic side are completely conserved among FROUNT-binding receptors.
Title: Identification of a binding element for the cytoplasmic regulator FROUNT in the membrane-proximal C-terminal region of chemokine receptors CCR2 and CCR5.
Data show that the C Terminus of Nup120 Directly Binds Nup145C and Nup85.
Title: The structure of the scaffold nucleoporin Nup120 reveals a new and unexpected domain architecture.
FROUNT binds to the C-terminal domain of CCR5 in addition to that of CCR2.
Title: FROUNT is a common regulator of CCR2 and CCR5 signaling to control directional migration.
The CCL2/CCR2 pathway via FROUNT may influence the clinical severity of CHF.
Title: A novel activator of C-C chemokine, FROUNT, is expressed with C-C chemokine receptor 2 and its ligand in failing human heart.

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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
Nephrotic syndrome, type 17 MedGen: C4748545 OMIM: 618176 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 85kDa (NUP85) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Interaction of HIV-1 Tat with Nup85 in T-cells is identified by a proteomic strategy based on affinity chromatography	PubMed
Vpr	vpr	HIV-1 Vpr-expressing HeLa cells stained with centriole markers pericentrin, gamma-tubulin, and Cen2 contain multiple pairs of centrioles scattered in the perinuclear region, indicating Vpr causes the accumulation of multiple centrosome-like structures	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cda0wb11 (e-PCR)
- UniSTS:28791

D17S650 (e-PCR), detects polymorphism
- UniSTS:24512

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

Process	Evidence Code	Pubs
involved_in lamellipodium assembly	IEA Inferred from Electronic Annotation more info
involved_in mRNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in macrophage chemotaxis	IEA Inferred from Electronic Annotation more info
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 positive regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
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	IEA Inferred from Electronic Annotation more info
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
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: nuclear pore complex protein Nup85

Names: nucleoporin 85kDa; nucleoporin Nup75; nucleoporin Nup85

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_001303276.2 → NP_001290205.1 nuclear pore complex protein Nup85 isoform 2

See identical proteins and their annotated locations for NP_001290205.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AK297574, BM973048, DA375719, DC424627

UniProtKB/TrEMBL

J3QL54

Related

ENSP00000463382.1, ENST00000579324.5

Conserved Domains (1) summary

pfam07575
Location:7 → 560

Nucleopor_Nup85; Nup85 Nucleoporin
NM_001330472.2 → NP_001317401.1 nuclear pore complex protein Nup85 isoform 3

Status: REVIEWED

Source sequence(s)

AC022211, BM973048

Consensus CDS

CCDS82202.1

UniProtKB/TrEMBL

J3KT10, J3QL54

Related

ENSP00000462749.1, ENST00000579298.5
NM_024844.5 → NP_079120.1 nuclear pore complex protein Nup85 isoform 1

See identical proteins and their annotated locations for NP_079120.1

Status: REVIEWED

Description

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

Source sequence(s)

AC022211, AF498261, BM973048, DA375719, DC424627

Consensus CDS

CCDS32730.1

UniProtKB/Swiss-Prot

B4DMQ3, B4DPW1, Q8NDI4, Q9BW27, Q9H9U1

UniProtKB/TrEMBL

J3QL54

Related

ENSP00000245544.4, ENST00000245544.9

Conserved Domains (1) summary

pfam07575
Location:53 → 606

Nucleopor_Nup85; Nup85 Nucleoporin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

75205679..75235758

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436776.1 → XP_047292732.1 nuclear pore complex protein Nup85 isoform X1
XM_047436778.1 → XP_047292734.1 nuclear pore complex protein Nup85 isoform X3
XM_024450951.2 → XP_024306719.2 nuclear pore complex protein Nup85 isoform X5

Related

ENST00000583948.5
XM_047436777.1 → XP_047292733.1 nuclear pore complex protein Nup85 isoform X2
XM_047436779.1 → XP_047292735.1 nuclear pore complex protein Nup85 isoform X4
XM_047436780.1 → XP_047292736.1 nuclear pore complex protein Nup85 isoform X6

UniProtKB/TrEMBL

F5H0W7

Related

ENSP00000445855.1, ENST00000540768.5

RNA

XR_007065462.1 RNA Sequence
XR_007065461.1 RNA Sequence
XR_002958072.2 RNA Sequence
XR_007065463.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

76097807..76127836

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054317277.1 → XP_054173252.1 nuclear pore complex protein Nup85 isoform X7
XM_054317278.1 → XP_054173253.1 nuclear pore complex protein Nup85 isoform X1
XM_054317280.1 → XP_054173255.1 nuclear pore complex protein Nup85 isoform X3
XM_054317282.1 → XP_054173257.1 nuclear pore complex protein Nup85 isoform X5
XM_054317279.1 → XP_054173254.1 nuclear pore complex protein Nup85 isoform X2
XM_054317281.1 → XP_054173256.1 nuclear pore complex protein Nup85 isoform X4
XM_054317283.1 → XP_054173258.1 nuclear pore complex protein Nup85 isoform X6

UniProtKB/TrEMBL

F5H0W7