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NUP85 nucleoporin 85 [ Homo sapiens (human) ]

Gene ID: 79902, updated on 7-Apr-2024

Summary

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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
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Genomic context

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See NUP85 in Genome Data Viewer
Location:
17q25.1
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75205679..75235758)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76097807..76127836)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73201774..73231853)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985034 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73143638-73144837 Neighboring gene Jupiter microtubule associated homolog 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8957 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73151095-73151690 Neighboring gene small ubiquitin like modifier 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73178362-73179012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73200579-73201513 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73201514-73202447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73203873-73204440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73220785-73221286 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73221550-73222749 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73230746-73230909 Neighboring gene Sharpr-MPRA regulatory region 15557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12740 Neighboring gene Sharpr-MPRA regulatory region 8279 Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12741 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73257869-73258746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8961 Neighboring gene mitochondrial ribosomal protein S7 Neighboring gene MIF4G domain containing

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders. Ravindran E, et al. Hum Mol Genet, 2021 Nov 1. PMID 34170319, Free PMC Article
  2. Expression and purification of human FROUNT, a common cytosolic regulator of CCR2 and CCR5. Esaki K, et al. Protein Expr Purif, 2011 May. PMID 21193048
  3. Structural basis for the binding of the membrane-proximal C-terminal region of chemokine receptor CCR2 with the cytosolic regulator FROUNT. Esaki K, et al. FEBS J, 2014 Dec. PMID 25283965
  4. Crystal structure of human nuclear pore complex component NUP43. Xu C, et al. FEBS Lett, 2015 Oct 24. PMID 26391640
  5. Identification of a binding element for the cytoplasmic regulator FROUNT in the membrane-proximal C-terminal region of chemokine receptors CCR2 and CCR5. Toda E, et al. Biochem J, 2014 Jan 15. PMID 24128342

See all (101) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.
    Title: NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
Submit: New GeneRIF Correction

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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

Clone Names

  • FLJ12549

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 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)

  1. 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

  2. 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

  3. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    75205679..75235758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436776.1 → XP_047292732.1  nuclear pore complex protein Nup85 isoform X1

  2. XM_047436778.1 → XP_047292734.1  nuclear pore complex protein Nup85 isoform X3

  3. XM_024450951.2 → XP_024306719.2  nuclear pore complex protein Nup85 isoform X5

    Related
    ENST00000583948.5

  4. XM_047436777.1 → XP_047292733.1  nuclear pore complex protein Nup85 isoform X2

  5. XM_047436779.1 → XP_047292735.1  nuclear pore complex protein Nup85 isoform X4

  6. XM_047436780.1 → XP_047292736.1  nuclear pore complex protein Nup85 isoform X6

    UniProtKB/TrEMBL
    F5H0W7
    Related
    ENSP00000445855.1, ENST00000540768.5

RNA

  1. XR_007065462.1 RNA Sequence

  2. XR_007065461.1 RNA Sequence

  3. XR_002958072.2 RNA Sequence

  4. XR_007065463.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    76097807..76127836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317277.1 → XP_054173252.1  nuclear pore complex protein Nup85 isoform X7

  2. XM_054317278.1 → XP_054173253.1  nuclear pore complex protein Nup85 isoform X1

  3. XM_054317280.1 → XP_054173255.1  nuclear pore complex protein Nup85 isoform X3

  4. XM_054317282.1 → XP_054173257.1  nuclear pore complex protein Nup85 isoform X5

  5. XM_054317279.1 → XP_054173254.1  nuclear pore complex protein Nup85 isoform X2

  6. XM_054317281.1 → XP_054173256.1  nuclear pore complex protein Nup85 isoform X4

  7. XM_054317283.1 → XP_054173258.1  nuclear pore complex protein Nup85 isoform X6

    UniProtKB/TrEMBL
    F5H0W7

RNA

  1. XR_008484937.1 RNA Sequence

  2. XR_008484935.1 RNA Sequence

  3. XR_008484936.1 RNA Sequence

  4. XR_008484938.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BW27.1 GenPept UniProtKB/Swiss-Prot:Q9BW27

Gene LinkOut

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