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    NUP93 nucleoporin 93 [ Homo sapiens (human) ]

    Gene ID: 9688, updated on 9-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Nephrotic syndrome, type 12 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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001242795.2NP_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:97679
      Nic96; Nup93/Nic96
    2. NM_001242796.2NP_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:97679
      Nic96; Nup93/Nic96
    3. NM_014669.5NP_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:220802
      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_005256263.4XP_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:220802
      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_054314485.1XP_054170460.1  nuclear pore complex protein Nup93 isoform X1

      UniProtKB/Swiss-Prot
      B3KPQ8, Q14705, Q8N1F7
      UniProtKB/TrEMBL
      A8K897