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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
    mouse all
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    Genomic context

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    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
    		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)

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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