ENSG00000102900


Homo sapiens

Features
Gene ID: ENSG00000102900
  
Biological name :NUP93
  
Synonyms : nucleoporin 93 / NUP93 / Q8N1F7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q13
Gene start: 56730105
Gene end: 56850286
  
Corresponding Affymetrix probe sets: 202188_at (Human Genome U133 Plus 2.0 Array)   241758_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000458101
Ensembl peptide - ENSP00000458039
Ensembl peptide - ENSP00000458078
Ensembl peptide - ENSP00000310668
Ensembl peptide - ENSP00000440235
Ensembl peptide - ENSP00000454285
Ensembl peptide - ENSP00000454587
Ensembl peptide - ENSP00000454844
Ensembl peptide - ENSP00000454935
Ensembl peptide - ENSP00000455181
Ensembl peptide - ENSP00000455210
Ensembl peptide - ENSP00000455230
Ensembl peptide - ENSP00000456196
Ensembl peptide - ENSP00000456264
Ensembl peptide - ENSP00000457902
Ensembl peptide - ENSP00000457907
NCBI entrez gene - 9688     See in Manteia.
OMIM - 614351
RefSeq - XM_005256263
RefSeq - NM_001242795
RefSeq - NM_001242796
RefSeq - NM_014669
RefSeq Peptide - NP_055484
RefSeq Peptide - NP_001229724
RefSeq Peptide - NP_001229725
swissprot - H3BRD9
swissprot - H3BRI8
swissprot - H3BV11
swissprot - H3BV15
swissprot - H3BVE2
swissprot - H3BVG0
swissprot - Q8N1F7
swissprot - H3BM93
swissprot - H3BMX0
swissprot - H3BNG7
swissprot - H3BP72
swissprot - H3BNN5
swissprot - H3BP95
swissprot - H3BPA9
Ensembl - ENSG00000102900
  
Related genetic diseases (OMIM): 616892 - Nephrotic syndrome, type 12, 616892
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nup93ENSDARG00000003487Danio rerio
 NUP93ENSGALG00000003010Gallus gallus
 Nup93ENSMUSG00000032939Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR007231  Nucleoporin interacting component Nup93/Nic96
 IPR011990  Tetratricopeptide-like helical domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006110 regulation of glycolytic process TAS
 biological_processGO:0006406 mRNA export from nucleus TAS
 biological_processGO:0006409 tRNA export from nucleus TAS
 biological_processGO:0006913 nucleocytoplasmic transport IEA
 biological_processGO:0006998 nuclear envelope organization IDA
 biological_processGO:0007077 mitotic nuclear envelope disassembly TAS
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016032 viral process TAS
 biological_processGO:0016925 protein sumoylation TAS
 biological_processGO:0016973 poly(A)+ mRNA export from nucleus IBA
 biological_processGO:0019083 viral transcription TAS
 biological_processGO:0051028 mRNA transport IEA
 biological_processGO:0051292 nuclear pore complex assembly IMP
 biological_processGO:0060391 positive regulation of SMAD protein signal transduction IDA
 biological_processGO:0060395 SMAD protein signal transduction IDA
 biological_processGO:0060964 regulation of gene silencing by miRNA TAS
 biological_processGO:0072001 renal system development ISS
 biological_processGO:0072015 glomerular visceral epithelial cell development ISS
 biological_processGO:0075733 intracellular transport of virus TAS
 biological_processGO:0090521 glomerular visceral epithelial cell migration IMP
 biological_processGO:1900034 regulation of cellular response to heat TAS
 biological_processGO:1903206 negative regulation of hydrogen peroxide-induced cell death IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope TAS
 cellular_componentGO:0005643 nuclear pore IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0034399 nuclear periphery IDA
 cellular_componentGO:0043657 host cell IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0017056 structural constituent of nuclear pore IEA


Pathways (from Reactome)
Pathway description
ISG15 antiviral mechanism
Transport of the SLBP independent Mature mRNA
Transport of the SLBP Dependant Mature mRNA
Transport of Mature mRNA Derived from an Intronless Transcript
Transport of Mature mRNA derived from an Intron-Containing Transcript
Rev-mediated nuclear export of HIV RNA
Transport of Ribonucleoproteins into the Host Nucleus
NS1 Mediated Effects on Host Pathways
Viral Messenger RNA Synthesis
NEP/NS2 Interacts with the Cellular Export Machinery
Regulation of Glucokinase by Glucokinase Regulatory Protein
Nuclear import of Rev protein
Vpr-mediated nuclear import of PICs
snRNP Assembly
SUMOylation of DNA damage response and repair proteins
SUMOylation of ubiquitinylation proteins
Nuclear Pore Complex (NPC) Disassembly
Regulation of HSF1-mediated heat shock response
SUMOylation of SUMOylation proteins
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
SUMOylation of DNA replication proteins
Transcriptional regulation by small RNAs
tRNA processing in the nucleus


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000097 Focal segmental glomerulosclerosis 
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0001967 Diffuse mesangial sclerosis 
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 HP:0003676 Progressive disorder 
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 HP:0003774 End stage renal disease 
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 HP:0012588 Steroid-resistant nephrotic syndrome "A form of nephrotic syndrome that does not respond to treatment with steroid medication." [Eurenomics:ewuehl]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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