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 ... See more...

Aliases for NUP93 Gene

Aliases for NUP93 Gene

  • Nucleoporin 93 2 3 5
  • Nuclear Pore Complex Protein Nup93 2 3 4
  • 93 KDa Nucleoporin 3 4
  • Nucleoporin Nup93 3 4
  • Nucleoporin 93kDa 2 3
  • KIAA0095 4
  • NIC96 3

External Ids for NUP93 Gene

Previous GeneCards Identifiers for NUP93 Gene

  • GC16P056540
  • GC16P055322
  • GC16P056764
  • GC16P042633

Summaries for NUP93 Gene

Entrez Gene Summary for NUP93 Gene

  • 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]

GeneCards Summary for NUP93 Gene

NUP93 (Nucleoporin 93) is a Protein Coding gene. Diseases associated with NUP93 include Nephrotic Syndrome, Type 12 and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Metabolism of proteins and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include structural constituent of nuclear pore.

UniProtKB/Swiss-Prot Summary for NUP93 Gene

  • Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor nucleoporins, but not NUP153 and TPR, to the NPC. During renal development, regulates podocyte migration and proliferation through SMAD4 signaling (PubMed:26878725).

Gene Wiki entry for NUP93 Gene

Additional gene information for NUP93 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP93 Gene

Genomics for NUP93 Gene

GeneHancer (GH) Regulatory Elements for NUP93 Gene

Promoters and enhancers for NUP93 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUP93 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP93

Top Transcription factor binding sites by QIAGEN in the NUP93 gene promoter:
  • ATF-2
  • CBF(2)
  • CBF-A
  • FOXO3
  • FOXO3a
  • FOXO3b
  • Hlf
  • Lmo2
  • p53
  • Sox5

Genomic Locations for NUP93 Gene

Genomic Locations for NUP93 Gene
chr16:56,730,105-56,850,286
(GRCh38/hg38)
Size:
120,182 bases
Orientation:
Plus strand
chr16:56,764,017-56,878,862
(GRCh37/hg19)
Size:
114,846 bases
Orientation:
Plus strand

Genomic View for NUP93 Gene

Genes around NUP93 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP93 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP93 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP93 Gene

Proteins for NUP93 Gene

  • Protein details for NUP93 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1F7-NUP93_HUMAN
    Recommended name:
    Nuclear pore complex protein Nup93
    Protein Accession:
    Q8N1F7
    Secondary Accessions:
    • B3KPQ8
    • Q14705

    Protein attributes for NUP93 Gene

    Size:
    819 amino acids
    Molecular mass:
    93488 Da
    Quaternary structure:
    • Part of the nuclear pore complex (NPC) (PubMed:9348540, PubMed:15229283, PubMed:15703211). Component of the p62 complex, a complex composed of NUP62 and NUP54 (PubMed:9348540). Forms a complex with NUP35, NUP155, NUP205 and lamin B; the interaction with NUP35 is direct (PubMed:15703211). Does not interact with TPR (PubMed:12802065, PubMed:15229283). Interacts with SMAD4 and IPO7; translocates SMAD4 to the nucleus through the NPC upon BMP7 stimulation resulting in activation of SMAD4 signaling (PubMed:26878725).
    SequenceCaution:
    • Sequence=BAA07680.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUP93 Gene

    Alternative splice isoforms for NUP93 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUP93 Gene

Post-translational modifications for NUP93 Gene

  • Ubiquitination at Lys141, Lys59, Lys243, Lys349, Lys359, Lys370, Lys417, Lys611, Lys619, Lys627, Lys660, Lys664, and Lys718
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NUP93 Gene

Domains & Families for NUP93 Gene

Gene Families for NUP93 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for NUP93 Gene

Blocks:
  • Nucleoporin interacting component
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NUP93 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58756, highly similar to Nuclear pore complex protein Nup93 (B3KPQ8_HUMAN)
  • Nucleoporin Nup93 (NUP93_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N1F7

UniProtKB/Swiss-Prot:

NUP93_HUMAN :
  • Belongs to the nucleoporin interacting component (NIC) family.
Family:
  • Belongs to the nucleoporin interacting component (NIC) family.
genes like me logo Genes that share domains with NUP93: view

Function for NUP93 Gene

Molecular function for NUP93 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor nucleoporins, but not NUP153 and TPR, to the NPC. During renal development, regulates podocyte migration and proliferation through SMAD4 signaling (PubMed:26878725).

Phenotypes From GWAS Catalog for NUP93 Gene

Gene Ontology (GO) - Molecular Function for NUP93 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26878725
GO:0017056 structural constituent of nuclear pore IEA,IMP 15229283
genes like me logo Genes that share ontologies with NUP93: view
genes like me logo Genes that share phenotypes with NUP93: view

Human Phenotype Ontology for NUP93 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for NUP93 Gene

miRTarBase miRNAs that target NUP93

Clone Products

  • Addgene plasmids for NUP93

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NUP93 Gene

Localization for NUP93 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP93 Gene

Nucleus membrane; Peripheral membrane protein. Nucleus, nuclear pore complex. Nucleus envelope. Note=Localizes at the nuclear basket and at or near the nuclear entry to the gated channel of the pore. {ECO:0000269 PubMed:9348540}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUP93 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NUP93 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS,IEA --
GO:0005643 nuclear pore IEA,IDA 12802065
GO:0016020 membrane HDA,IEA 19946888
GO:0031965 nuclear membrane IEA,IDA 15229283
genes like me logo Genes that share ontologies with NUP93: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NUP93 Gene

Pathways & Interactions for NUP93 Gene

PathCards logo

SuperPathways for NUP93 Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with NUP93: view

Pathways by source for NUP93 Gene

Gene Ontology (GO) - Biological Process for NUP93 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006110 regulation of glycolytic process TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006606 protein import into nucleus IBA 21873635
GO:0006913 nucleocytoplasmic transport IEA --
genes like me logo Genes that share ontologies with NUP93: view

No data available for SIGNOR curated interactions for NUP93 Gene

Drugs & Compounds for NUP93 Gene

No Compound Related Data Available

Transcripts for NUP93 Gene

mRNA/cDNA for NUP93 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for NUP93

Alternative Splicing Database (ASD) splice patterns (SP) for NUP93 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d · 11e ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - - - - - - - -
SP2: - - - -
SP3: - - - - - -
SP4: - - - - - - - - - - - - - - - - - - - -
SP5: - - - - - -
SP6: - - - - - - -
SP7: -
SP8: - - - - - -
SP9:
SP10:
SP11: - -
SP12: -

ExUns: 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b · 26c ^ 27 ^ 28
SP1: - -
SP2: - -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10: -
SP11:
SP12:

Relevant External Links for NUP93 Gene

GeneLoc Exon Structure for
NUP93

Expression for NUP93 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUP93 Gene

Protein differential expression in normal tissues from HIPED for NUP93 Gene

This gene is overexpressed in Bone (24.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP93 Gene



Protein tissue co-expression partners for NUP93 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP93

SOURCE GeneReport for Unigene cluster for NUP93 Gene:

Hs.276878

Evidence on tissue expression from TISSUES for NUP93 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Bone marrow(4.3)
  • Skin(4.2)
  • Gall bladder(2.5)
  • Pancreas(2.3)
genes like me logo Genes that share expression patterns with NUP93: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUP93 Gene

Orthologs for NUP93 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NUP93 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUP93 31 30
  • 99.35 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NUP93 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NUP93 31 30
  • 93.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NUP93 31 30
  • 92.31 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nup93 30
  • 89.95 (n)
mouse
(Mus musculus)
Mammalia Nup93 17 31 30
  • 89.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NUP93 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUP93 31 30
  • 80.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUP93 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nup93 30
  • 73.91 (n)
Str.1879 30
African clawed frog
(Xenopus laevis)
Amphibia dye-prov 30
zebrafish
(Danio rerio)
Actinopterygii nup93 31 30
  • 74.68 (n)
OneToOne
dye 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14054 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003459 30
  • 51.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7262 31 30
  • 48.61 (n)
OneToMany
CG11092 31
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea npp-13 31 30
  • 42.29 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E14191g 30
  • 43.11 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR004W 30
  • 42.61 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NIC96 33 31 30
  • 41.68 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G57350 30
  • 39.8 (n)
rice
(Oryza sativa)
Liliopsida Os03g0349000 30
  • 39.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10781 31
  • 47 (a)
OneToMany
-- 31
  • 42 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU01702 30
  • 42.27 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nup97 30
  • 40.97 (n)
Species where no ortholog for NUP93 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NUP93 Gene

ENSEMBL:
Gene Tree for NUP93 (if available)
TreeFam:
Gene Tree for NUP93 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUP93: view image

Paralogs for NUP93 Gene

(26) SIMAP similar genes for NUP93 Gene using alignment to 14 proteins:

  • NUP93_HUMAN
  • H3BM93_HUMAN
  • H3BMX0_HUMAN
  • H3BNG7_HUMAN
  • H3BNN5_HUMAN
  • H3BP72_HUMAN
  • H3BP95_HUMAN
  • H3BPA9_HUMAN
  • H3BRD9_HUMAN
  • H3BRI8_HUMAN
  • H3BV11_HUMAN
  • H3BV15_HUMAN
  • H3BVE2_HUMAN
  • H3BVG0_HUMAN
genes like me logo Genes that share paralogs with NUP93: view

No data available for Paralogs for NUP93 Gene

Variants for NUP93 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP93 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
499268 Uncertain Significance: not provided 56,836,696(+) AAAGCTGTATGACCTT INFRAME_DELETION
635548 Uncertain Significance: Nephrotic syndrome, type 12 56,836,655(+) G/C MISSENSE_VARIANT
710087 Benign: not provided 56,823,841(+) G/A SYNONYMOUS_VARIANT
718833 Likely Benign: not provided 56,833,325(+) C/T MISSENSE_VARIANT
720509 Benign: not provided 56,823,768(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NUP93 Gene

Structural Variations from Database of Genomic Variants (DGV) for NUP93 Gene

Variant ID Type Subtype PubMed ID
esv3638706 CNV loss 21293372
esv3638707 CNV loss 21293372
nsv1059098 CNV gain 25217958
nsv1069951 CNV deletion 25765185
nsv833244 CNV gain 17160897
nsv952682 CNV duplication 24416366

Variation tolerance for NUP93 Gene

Residual Variation Intolerance Score: 15.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.68; 57.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUP93 Gene

Human Gene Mutation Database (HGMD)
NUP93
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP93

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP93 Gene

Disorders for NUP93 Gene

MalaCards: The human disease database

(7) MalaCards diseases for NUP93 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 12
  • nphs12
genetic steroid-resistant nephrotic syndrome
  • nephrotic syndrome, steroid-resistant, autosomal recessive
nephrotic syndrome
  • finnish congenital nephrotic syndrome
focal segmental glomerulosclerosis
  • fgs
end stage renal failure
  • end stage renal disease
- elite association - COSMIC cancer census association via MalaCards
Search NUP93 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NUP93_HUMAN
  • Nephrotic syndrome 12 (NPHS12) [MIM:616892]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS12 inheritance is autosomal recessive. {ECO:0000269 PubMed:26878725}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NUP93

genes like me logo Genes that share disorders with NUP93: view

No data available for Genatlas for NUP93 Gene

Publications for NUP93 Gene

  1. Nup93, a vertebrate homologue of yeast Nic96p, forms a complex with a novel 205-kDa protein and is required for correct nuclear pore assembly. (PMID: 9348540) Grandi P … Hurt E (Molecular biology of the cell 1997) 2 3 4 23 54
  2. Nucleoporins as components of the nuclear pore complex core structure and Tpr as the architectural element of the nuclear basket. (PMID: 15229283) Krull S … Cordes VC (Molecular biology of the cell 2004) 3 4 23 54
  3. Major binding sites for the nuclear import receptor are the internal nucleoporin Nup153 and the adjacent nuclear filament protein Tpr. (PMID: 9531546) Shah S … Forbes D (The Journal of cell biology 1998) 2 3 23 54
  4. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. (PMID: 26878725) Braun DA … Hildebrandt F (Nature genetics 2016) 3 4 54
  5. 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. (PMID: 20031564) Ridker PM … Chasman DI (Circulation. Cardiovascular genetics 2009) 3 41 54

Products for NUP93 Gene