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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
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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

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

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
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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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