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Aliases for NUP93 Gene

Aliases for NUP93 Gene

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

External Ids for NUP93 Gene

Previous GeneCards Identifiers for NUP93 Gene

  • GC16P056540
  • GC16P055322
  • 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 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Diffuse Mesangial Sclerosis. Among its related pathways are HIV Life Cycle and Transport of the SLBP independent Mature mRNA. GO annotations related to this gene include structural constituent of nuclear pore.

UniProtKB/Swiss-Prot for NUP93 Gene

  • Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUP93 Gene

Genomics for NUP93 Gene

Regulatory Elements for NUP93 Gene

Enhancers for NUP93 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G057626 1.6 Ensembl ENCODE dbSUPER 26.2 +898.7 898680 4.8 HDGF PKNOX1 SIN3A ARID4B DMAP1 YBX1 ZNF2 ZNF766 ZNF302 ZNF416 RSPRY1 LOC101927556 POLR2C LOC105371286 NUP93 ADGRG3 CCDC102A SETD6 ARL2BP CNGB1
GH16G056930 1.4 ENCODE dbSUPER 27.8 +205.4 205414 10.1 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 RSPRY1 NUP93 NUDT21 POLR2C CETP SLC12A3 ENSG00000261270 NLRC5 ENSG00000272372 ARL2BP
GH16G056708 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20 -20.7 -20733 2.3 PKNOX1 ARNT FEZF1 ZNF48 ZBTB40 ZNF766 FOS ZBTB11 NCOA1 ELF1 NUP93 MT1X MT1H MT1G MT3 NLRC5 LOC105371287 LOC105371286
GH16G056859 1.3 Ensembl ENCODE 24.3 +131.6 131591 4.2 HDGF FOXA2 ZFP64 SIN3A FEZF1 YBX1 ZBTB7B TCF12 ZNF121 ZNF766 NUP93 NUDT21 SLC12A3 GC16P056865 MIR138-2
GH16G056604 2 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -120.0 -119950 10.8 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX ZFP64 WRNIP1 ARID4B SIN3A FEZF1 BBS2 MT1A MT1F MT1H MT1G MT3 MT1DP MT1CP MT1B POLR2C
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NUP93 on UCSC Golden Path with GeneCards custom track

Promoters for NUP93 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000086314 195 1401 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143

Genomic Location for NUP93 Gene

Chromosome:
16
Start:
56,730,105 bp from pter
End:
56,850,286 bp from pter
Size:
120,182 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). Component of the p62 complex, a complex composed of NUP62 and NUP54. Forms a complex with NUP53, NUP155, NUP205 and lamin B; the interaction with NUP53 is direct. Does not interact with TPR. 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=Translation N-terminally shortened.; 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 Lys59, Lys141, posLast=243243, Lys349, Lys359, Lys370, Lys417, Lys611, Lys619, Lys627, posLast=660660, posLast=664664, and posLast=718718
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NUP93 Gene

Domains & Families for NUP93 Gene

Gene Families for NUP93 Gene

Protein Domains for NUP93 Gene

Suggested Antigen Peptide Sequences for NUP93 Gene

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. 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 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 IMP 15229283
genes like me logo Genes that share ontologies with NUP93: view
genes like me logo Genes that share phenotypes with NUP93: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NUP93

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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.

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
cytosol 2
extracellular 1
mitochondrion 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 --
GO:0005643 nuclear pore IEA,IDA 12802065
GO:0016020 membrane IDA,IEA 19946888
GO:0031965 nuclear membrane IEA,IDA 15229283
genes like me logo Genes that share ontologies with NUP93: view

Pathways & Interactions for NUP93 Gene

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:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006810 transport IEA --
GO:0006998 nuclear envelope organization IDA 26878725
GO:0007077 mitotic nuclear envelope disassembly TAS --
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

Unigene Clusters for NUP93 Gene

Nucleoporin 93kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
NUP93

Expression for NUP93 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for NUP93 Gene



Protein tissue co-expression partners for NUP93 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUP93 Gene:

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

Primer Products

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 34 35
  • 99.35 (n)
oppossum
(Monodelphis domestica)
Mammalia NUP93 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NUP93 34 35
  • 93.12 (n)
cow
(Bos Taurus)
Mammalia NUP93 35 34
  • 92.31 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nup93 34
  • 89.95 (n)
mouse
(Mus musculus)
Mammalia Nup93 34 16 35
  • 89.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NUP93 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUP93 35 34
  • 80.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUP93 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nup93 34
  • 73.91 (n)
Str.1879 34
African clawed frog
(Xenopus laevis)
Amphibia dye-prov 34
zebrafish
(Danio rerio)
Actinopterygii nup93 34 35
  • 74.68 (n)
dye 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14054 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003459 34
  • 51.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7262 34 35
  • 48.61 (n)
CG11092 35
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea npp-13 35 34
  • 42.29 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E14191g 34
  • 43.11 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR004W 34
  • 42.61 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NIC96 34 35 37
  • 41.68 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G57350 34
  • 39.8 (n)
rice
(Oryza sativa)
Liliopsida Os03g0349000 34
  • 39.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10781 35
  • 47 (a)
OneToMany
-- 35
  • 42 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU01702 34
  • 42.27 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nup97 34
  • 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)

Paralogs for NUP93 Gene

No data available for Paralogs for NUP93 Gene

Variants for NUP93 Gene

Sequence variations from dbSNP and Humsavar for NUP93 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs145146218 Pathogenic, Nephrotic syndrome 12 (NPHS12) [MIM:616892] 56,831,918(+) ACAAG(C/T)GGGCC reference, missense
rs145473779 Pathogenic, Nephrotic syndrome 12 (NPHS12) [MIM:616892] 56,834,768(+) TGACG(G/T)AAGTA reference, missense
rs757674160 Pathogenic, Nephrotic syndrome 12 (NPHS12) [MIM:616892] 56,836,704(+) GCTGT(A/G)TGACC reference, missense
rs138909849 Pathogenic 56,833,407(+) GCTCC(A/G)TGAGT splice-donor-variant
rs869320695 Pathogenic 56,832,369(+) CAGAA(-/G)CAGTT reference, frameshift-variant

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)

Relevant External Links for NUP93 Gene

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

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

Disorders for NUP93 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NUP93 Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome type 12
  • nphs12
familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
nephrotic syndrome
  • finnish congenital nephrosis
diffuse mesangial sclerosis
  • diffuse isolated mesangial sclerosis
- 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.

Relevant External Links for NUP93

Genetic Association Database (GAD)
NUP93
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Mol. Biol. Cell 1997) 2 3 4 22 64
  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 V.C. (Mol. Biol. Cell 2004) 3 4 22 64
  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. (J. Cell Biol. 1998) 2 3 22 64
  4. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. (PMID: 26878725) Braun D.A. … Hildebrandt F. (Nat. Genet. 2016) 3 4 64
  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 P.M. … Chasman D.I. (Circ Cardiovasc Genet 2009) 3 46 64

Products for NUP93 Gene

  • Addgene plasmids for NUP93

Sources for NUP93 Gene

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