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    NUP93 nucleoporin 93 [ Homo sapiens (human) ]

    Gene ID: 9688, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NUP93provided by HGNC
    Official Full Name
    nucleoporin 93provided by HGNC
    Primary source
    HGNC:HGNC:28958
    See related
    Ensembl:ENSG00000102900 MIM:614351; AllianceGenome:HGNC:28958
    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
    NIC96
    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 are the main components of the nuclear pore complex in eukaryotic cells. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
    Expression
    Broad expression in testis (RPKM 20.8), thyroid (RPKM 10.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NUP93 in Genome Data Viewer
    Location:
    16q13
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (56730129..56850286)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (62525082..62646588)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (56764041..56884198)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene developmental pluripotency associated 2 pseudogene 4 Neighboring gene uncharacterized LOC105371287 Neighboring gene NUP93 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7514 Neighboring gene Sharpr-MPRA regulatory region 1622 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:56885802-56886009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56901109-56901693 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:56901694-56902278 Neighboring gene microRNA 138-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:56908501-56909437 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56910353-56910852 Neighboring gene solute carrier family 12 member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56926577-56927308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10857 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:56937172-56937352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:56937981-56938489 Neighboring gene microRNA 6863

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Nup93 and CTCF modulate spatiotemporal dynamics and function of the HOXA gene locus during differentiation. Labade AS, et al. J Cell Sci, 2021 Dec 1. PMID 34746948
    2. Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93. Bezdíčka M, et al. Pediatr Nephrol, 2018 Aug. PMID 29869118
    3. Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia. Zanni G, et al. Cerebellum, 2019 Jun. PMID 30741391
    4. SARS coronavirus protein nsp1 disrupts localization of Nup93 from the nuclear pore complex. Gomez GN, et al. Biochem Cell Biol, 2019 Dec. PMID 30943371
    5. Expression of Nup93 is associated with the proliferation, migration and invasion capacity of cervical cancer cells. Ouyang X, et al. Acta Biochim Biophys Sin (Shanghai), 2019 Dec 13. PMID 31774908

    See all (203) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcription Factor yin-Yang 1 augments nucleoporin 93 oncogene activity and modulates bladder Cancer malignancy.
      Title: Transcription Factor yin-Yang 1 augments nucleoporin 93 oncogene activity and modulates bladder Cancer malignancy.
    2. Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.
      Title: Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.
    3. Nucleoporin93 limits Yap activity to prevent endothelial cell senescence.
      Title: Nucleoporin93 limits Yap activity to prevent endothelial cell senescence.
    4. Nucleoporin 93, a new substrate of the E3 ubiquitin protein ligase HECTD1, promotes esophageal squamous cell carcinoma progression.
      Title: Nucleoporin 93, a new substrate of the E3 ubiquitin protein ligase HECTD1, promotes esophageal squamous cell carcinoma progression.
    5. Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
      Title: Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
    6. Nucleoporin-93 reveals a common feature of aggressive breast cancers: robust nucleocytoplasmic transport of transcription factors.
      Title: Nucleoporin-93 reveals a common feature of aggressive breast cancers: robust nucleocytoplasmic transport of transcription factors.
    7. Nucleoporin 93 mediates beta-catenin nuclear import to promote hepatocellular carcinoma progression and metastasis.
      Title: Nucleoporin 93 mediates β-catenin nuclear import to promote hepatocellular carcinoma progression and metastasis.
    8. Nup93 and CTCF modulate spatiotemporal dynamics and function of the HOXA gene locus during differentiation.
      Title: Nup93 and CTCF modulate spatiotemporal dynamics and function of the HOXA gene locus during differentiation.
    9. Molecular and structural analysis of central transport channel in complex with Nup93 of nuclear pore complex.
      Title: Molecular and structural analysis of central transport channel in complex with Nup93 of nuclear pore complex.
    10. Nup93 regulates breast tumor growth by modulating cell proliferation and actin cytoskeleton remodeling.
      Title: Nup93 regulates breast tumor growth by modulating cell proliferation and actin cytoskeleton remodeling.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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 12
    MedGen: C4225166 OMIM: 616892 GeneReviews: Genetic Steroid-Resistant Nephrotic Syndrome Overview
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of a quantitative disordered gambling trait.
    EBI GWAS Catalog
    Polymorphism in the CETP gene region, HDL cholesterol, and risk of future myocardial infarction: Genomewide analysis among 18 245 initially healthy women from the Women's Genome Health Study.
    EBI GWAS Catalog

    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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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Interaction of HIV-1 Tat with Nup93 in T-cells is identified by a proteomic strategy based on affinity chromatography 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

    • KIAA0095, MGC21106

    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
    		  
    enables structural constituent of nuclear pore IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in nuclear envelope organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nuclear pore complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nuclear pore complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nucleocytoplasmic transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in poly(A)+ mRNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear periphery 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 

    General protein information

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    Preferred Names
    nuclear pore complex protein Nup93
    Names
    93 kDa nucleoporin
    nucleoporin 93kDa
    nucleoporin Nup93

    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

    1. NG_052904.2 RefSeqGene

      Range
      5002..125159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001242795.2 → NP_001229724.1  nuclear pore complex protein Nup93 isoform 2

      See identical proteins and their annotated locations for NP_001229724.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a distinct 5' end which results in the use of an in-frame downstream start codon, compared to variant 1, and a protein (isoform 2) with a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AC012181, AK056637, AK294176, DA495676, DA531475
      Consensus CDS
      CCDS55996.1
      UniProtKB/TrEMBL
      A8K897
      Related
      ENSP00000458039.1, ENST00000564887.5
      Conserved Domains (1) summary
      pfam04097
      Location:97 → 679
      Nic96; Nup93/Nic96

    2. NM_001242796.2 → NP_001229725.1  nuclear pore complex protein Nup93 isoform 2

      See identical proteins and their annotated locations for NP_001229725.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has a distinct 5' end which results in the use of an in-frame downstream start codon, compared to variant 1, and a protein (isoform 2) with a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AK294176, DA495676
      Consensus CDS
      CCDS55996.1
      UniProtKB/TrEMBL
      A8K897
      Related
      ENSP00000440235.1, ENST00000542526.5
      Conserved Domains (1) summary
      pfam04097
      Location:97 → 679
      Nic96; Nup93/Nic96

    3. NM_014669.5 → NP_055484.3  nuclear pore complex protein Nup93 isoform 1

      See identical proteins and their annotated locations for NP_055484.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC012181, AK294176, BC034346, DA495676, DA587787
      Consensus CDS
      CCDS10769.1
      UniProtKB/Swiss-Prot
      B3KPQ8, Q14705, Q8N1F7
      UniProtKB/TrEMBL
      A8K897
      Related
      ENSP00000310668.5, ENST00000308159.10
      Conserved Domains (1) summary
      pfam04097
      Location:220 → 802
      Nic96; Nup93/Nic96

    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

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      56730129..56850286
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256263.4 → XP_005256320.1  nuclear pore complex protein Nup93 isoform X1

      See identical proteins and their annotated locations for XP_005256320.1

      UniProtKB/Swiss-Prot
      B3KPQ8, Q14705, Q8N1F7
      UniProtKB/TrEMBL
      A8K897
      Conserved Domains (1) summary
      pfam04097
      Location:220 → 802
      Nic96; Nup93/Nic96

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      62525082..62646588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314485.1 → XP_054170460.1  nuclear pore complex protein Nup93 isoform X1

      UniProtKB/Swiss-Prot
      B3KPQ8, Q14705, Q8N1F7
      UniProtKB/TrEMBL
      A8K897
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N1F7.2 GenPept UniProtKB/Swiss-Prot:Q8N1F7

    Gene LinkOut

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

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