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NUP93 nucleoporin 93 [ Homo sapiens (human) ]

Gene ID: 9688, updated on 5-Jan-2020

Summary

Official Symbol
NUP93provided by HGNC
Official Full Name
nucleoporin 93provided by HGNC
Primary source
HGNC:HGNC:28958
See related
Ensembl:ENSG00000102900 MIM:614351
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

Genomic context

See NUP93 in Genome Data Viewer
Location:
16q13
Exon count:
25
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (56730129..56850286)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (56764017..56882637)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene developmental pluripotency associated 2 pseudogene 4 Neighboring gene uncharacterized LOC105371286 Neighboring gene uncharacterized LOC105371287 Neighboring gene microRNA 138-2 Neighboring gene solute carrier family 12 member 3 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
MedGen: C4225166 OMIM: 616892 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of a quantitative disordered gambling trait.
NHGRI GWA 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.
NHGRI GWA 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

Homology

Clone Names

  • KIAA0095, MGC21106

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of nuclear pore IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
intracellular transport of virus TAS
Traceable Author Statement
more info
 
mRNA export from nucleus TAS
Traceable Author Statement
more info
 
nuclear envelope organization IDA
Inferred from Direct Assay
more info
PubMed 
nuclear pore complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
nuclear pore complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
poly(A)+ mRNA export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein sumoylation TAS
Traceable Author Statement
more info
 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
regulation of gene silencing by miRNA TAS
Traceable Author Statement
more info
 
regulation of glycolytic process TAS
Traceable Author Statement
more info
 
renal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
tRNA export from nucleus TAS
Traceable Author Statement
more info
 
viral process TAS
Traceable Author Statement
more info
 
viral transcription TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
host cell IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope TAS
Traceable Author Statement
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear periphery IDA
Inferred from Direct Assay
more info
PubMed 
nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear pore IDA
Inferred from Direct Assay
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)

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_052904.1 RefSeqGene

    Range
    5001..119846
    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/Swiss-Prot
    Q8N1F7
    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/Swiss-Prot
    Q8N1F7
    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
    Q8N1F7
    Related
    ENSP00000310668.5, ENST00000308159.10
    Conserved Domains (1) summary
    pfam04097
    Location:220802
    Nic96; Nup93/Nic96

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005256263.3XP_005256320.1  nuclear pore complex protein Nup93 isoform X1

    See identical proteins and their annotated locations for XP_005256320.1

    UniProtKB/Swiss-Prot
    Q8N1F7
    Related
    ENSP00000458101.1, ENST00000569842.5
    Conserved Domains (1) summary
    pfam04097
    Location:220802
    Nic96; Nup93/Nic96
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