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Protein

Nuclear pore complex protein Nup93

Gene

NUP93

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).4 Publications

GO - Molecular functioni

  • structural constituent of nuclear pore Source: UniProtKB

GO - Biological processi

  • glomerular visceral epithelial cell development Source: UniProtKB
  • glomerular visceral epithelial cell migration Source: UniProtKB
  • intracellular transport of virus Source: Reactome
  • mitotic nuclear envelope disassembly Source: Reactome
  • mRNA export from nucleus Source: Reactome
  • negative regulation of hydrogen peroxide-induced cell death Source: UniProtKB
  • nuclear envelope organization Source: UniProtKB
  • nuclear pore complex assembly Source: UniProtKB
  • poly(A)+ mRNA export from nucleus Source: GO_Central
  • positive regulation of SMAD protein import into nucleus Source: UniProtKB
  • protein sumoylation Source: Reactome
  • regulation of cellular response to heat Source: Reactome
  • regulation of gene silencing by miRNA Source: Reactome
  • regulation of glycolytic process Source: Reactome
  • renal system development Source: UniProtKB
  • SMAD protein signal transduction Source: UniProtKB
  • tRNA export from nucleus Source: Reactome
  • viral process Source: Reactome
  • viral transcription Source: Reactome

Keywordsi

Biological processmRNA transport, Protein transport, Translocation, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1169408 ISG15 antiviral mechanism
R-HSA-159227 Transport of the SLBP independent Mature mRNA
R-HSA-159230 Transport of the SLBP Dependant Mature mRNA
R-HSA-159231 Transport of Mature mRNA Derived from an Intronless Transcript
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-165054 Rev-mediated nuclear export of HIV RNA
R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus
R-HSA-168276 NS1 Mediated Effects on Host Pathways
R-HSA-168325 Viral Messenger RNA Synthesis
R-HSA-168333 NEP/NS2 Interacts with the Cellular Export Machinery
R-HSA-170822 Regulation of Glucokinase by Glucokinase Regulatory Protein
R-HSA-180746 Nuclear import of Rev protein
R-HSA-180910 Vpr-mediated nuclear import of PICs
R-HSA-191859 snRNP Assembly
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453 Regulation of HSF1-mediated heat shock response
R-HSA-4551638 SUMOylation of chromatin organization proteins
R-HSA-4570464 SUMOylation of RNA binding proteins
R-HSA-4615885 SUMOylation of DNA replication proteins
R-HSA-5578749 Transcriptional regulation by small RNAs
R-HSA-6784531 tRNA processing in the nucleus

Protein family/group databases

TCDBi1.I.1.1.3 the eukaryotic nuclear pore complex (e-npc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear pore complex protein Nup93
Alternative name(s):
93 kDa nucleoporin
Nucleoporin Nup93
Gene namesi
Name:NUP93
Synonyms:KIAA0095
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000102900.12
HGNCiHGNC:28958 NUP93
MIMi614351 gene
neXtProtiNX_Q8N1F7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Nuclear pore complex, Nucleus

Pathology & Biotechi

Involvement in diseasei

Nephrotic syndrome 12 (NPHS12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:616892
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076473388R → W in NPHS12; doesnt affect nuclear envelope localization; impairs nuclear pore complex assembly; doesn't abrogate interaction with NUP205; doesn't affect SMAD4 interaction; doesn't affect IPO7 interaction; impairs SMAD4 protein import into nucleus; impairs SMAD4 protein signal transduction. 1 PublicationCorresponds to variant dbSNP:rs145146218Ensembl.1
Natural variantiVAR_076474591G → V in NPHS12; doesnt affect nuclear envelope localization; doesn't affect nuclear pore complex assembly; doesn't abrogate interaction with NUP205; abrogates SMAD4 interaction; abrogates IPO7 interaction; impairs SMAD4 protein import into nucleus; impairs SMAD4 protein signal transduction. 1 PublicationCorresponds to variant dbSNP:rs145473779Ensembl.1
Natural variantiVAR_076475629Y → C in NPHS12; doesnt affect nuclear envelope localization; doesn't affect nuclear pore complex assembly; doesn't abrogate interaction with NUP205; abrogates SMAD4 interaction; abrogates IPO7 interaction; impairs SMAD4 protein import; impairs SMAD4 protein signal transduction into nucleus;. 1 PublicationCorresponds to variant dbSNP:rs757674160Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9688
MalaCardsiNUP93
MIMi616892 phenotype
OpenTargetsiENSG00000102900
PharmGKBiPA134912759

Polymorphism and mutation databases

BioMutaiNUP93
DMDMi116242684

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001247821 – 819Nuclear pore complex protein Nup93Add BLAST819

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei49PhosphothreonineCombined sources1
Modified residuei52PhosphoserineCombined sources1
Modified residuei66PhosphoserineCombined sources1
Modified residuei72PhosphoserineCombined sources1
Modified residuei75PhosphoserineCombined sources1
Modified residuei80PhosphoserineCombined sources1
Modified residuei430PhosphoserineCombined sources1
Modified residuei767PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N1F7
MaxQBiQ8N1F7
PaxDbiQ8N1F7
PeptideAtlasiQ8N1F7
PRIDEiQ8N1F7

PTM databases

iPTMnetiQ8N1F7
PhosphoSitePlusiQ8N1F7
SwissPalmiQ8N1F7

Expressioni

Gene expression databases

BgeeiENSG00000102900
CleanExiHS_NUP93
ExpressionAtlasiQ8N1F7 baseline and differential
GenevisibleiQ8N1F7 HS

Organism-specific databases

HPAiHPA017937

Interactioni

Subunit structurei

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).5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MYCP011062EBI-1042703,EBI-447544

Protein-protein interaction databases

BioGridi115041, 82 interactors
CORUMiQ8N1F7
DIPiDIP-44020N
IntActiQ8N1F7, 57 interactors
MINTiQ8N1F7
STRINGi9606.ENSP00000310668

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5IJNelectron microscopy21.40C/I/O/U1-819[»]
5IJOelectron microscopy21.40C/I/O/U1-819[»]
ProteinModelPortaliQ8N1F7
SMRiQ8N1F7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2168 Eukaryota
ENOG410XPN3 LUCA
GeneTreeiENSGT00390000016353
HOGENOMiHOG000007350
HOVERGENiHBG052701
InParanoidiQ8N1F7
KOiK14309
PhylomeDBiQ8N1F7
TreeFamiTF315118

Family and domain databases

InterProiView protein in InterPro
IPR007231 Nucleoporin_int_Nup93/Nic96
PANTHERiPTHR11225 PTHR11225, 1 hit
PfamiView protein in Pfam
PF04097 Nic96, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N1F7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDTEGFGELL QQAEQLAAET EGISELPHVE RNLQEIQQAG ERLRSRTLTR
60 70 80 90 100
TSQETADVKA SVLLGSRGLD ISHISQRLES LSAATTFEPL EPVKDTDIQG
110 120 130 140 150
FLKNEKDNAL LSAIEESRKR TFGMAEEYHR ESMLVEWEQV KQRILHTLLA
160 170 180 190 200
SGEDALDFTQ ESEPSYISDV GPPGRSSLDN IEMAYARQIY IYNEKIVNGH
210 220 230 240 250
LQPNLVDLCA SVAELDDKSI SDMWTMVKQM TDVLLTPATD ALKNRSSVEV
260 270 280 290 300
RMEFVRQALA YLEQSYKNYT LVTVFGNLHQ AQLGGVPGTY QLVRSFLNIK
310 320 330 340 350
LPAPLPGLQD GEVEGHPVWA LIYYCMRCGD LLAASQVVNR AQHQLGEFKT
360 370 380 390 400
WFQEYMNSKD RRLSPATENK LRLHYRRALR NNTDPYKRAV YCIIGRCDVT
410 420 430 440 450
DNQSEVADKT EDYLWLKLNQ VCFDDDGTSS PQDRLTLSQF QKQLLEDYGE
460 470 480 490 500
SHFTVNQQPF LYFQVLFLTA QFEAAVAFLF RMERLRCHAV HVALVLFELK
510 520 530 540 550
LLLKSSGQSA QLLSHEPGDP PCLRRLNFVR LLMLYTRKFE STDPREALQY
560 570 580 590 600
FYFLRDEKDS QGENMFLRCV SELVIESREF DMILGKLEND GSRKPGVIDK
610 620 630 640 650
FTSDTKPIIN KVASVAENKG LFEEAAKLYD LAKNADKVLE LMNKLLSPVV
660 670 680 690 700
PQISAPQSNK ERLKNMALSI AERYRAQGIS ANKFVDSTFY LLLDLITFFD
710 720 730 740 750
EYHSGHIDRA FDIIERLKLV PLNQESVEER VAAFRNFSDE IRHNLSEVLL
760 770 780 790 800
ATMNILFTQF KRLKGTSPSS SSRPQRVIED RDSQLRSQAR TLITFAGMIP
810
YRTSGDTNAR LVQMEVLMN
Length:819
Mass (Da):93,488
Last modified:October 17, 2006 - v2
Checksum:i7A611FABE964FE98
GO
Isoform 2 (identifier: Q8N1F7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-123: Missing.

Note: No experimental confirmation available.
Show »
Length:696
Mass (Da):79,882
Checksum:i8B232CEE9284D4B1
GO

Sequence cautioni

The sequence BAA07680 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076473388R → W in NPHS12; doesnt affect nuclear envelope localization; impairs nuclear pore complex assembly; doesn't abrogate interaction with NUP205; doesn't affect SMAD4 interaction; doesn't affect IPO7 interaction; impairs SMAD4 protein import into nucleus; impairs SMAD4 protein signal transduction. 1 PublicationCorresponds to variant dbSNP:rs145146218Ensembl.1
Natural variantiVAR_028160509S → R1 PublicationCorresponds to variant dbSNP:rs17853288Ensembl.1
Natural variantiVAR_076474591G → V in NPHS12; doesnt affect nuclear envelope localization; doesn't affect nuclear pore complex assembly; doesn't abrogate interaction with NUP205; abrogates SMAD4 interaction; abrogates IPO7 interaction; impairs SMAD4 protein import into nucleus; impairs SMAD4 protein signal transduction. 1 PublicationCorresponds to variant dbSNP:rs145473779Ensembl.1
Natural variantiVAR_076475629Y → C in NPHS12; doesnt affect nuclear envelope localization; doesn't affect nuclear pore complex assembly; doesn't abrogate interaction with NUP205; abrogates SMAD4 interaction; abrogates IPO7 interaction; impairs SMAD4 protein import; impairs SMAD4 protein signal transduction into nucleus;. 1 PublicationCorresponds to variant dbSNP:rs757674160Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0431171 – 123Missing in isoform 2. 1 PublicationAdd BLAST123

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D42085 mRNA Translation: BAA07680.2 Different initiation.
AK294176 mRNA Translation: BAH11689.1
BC034346 mRNA Translation: AAH34346.1
AC012181 Genomic DNA No translation available.
AC106779 Genomic DNA No translation available.
AC127456 Genomic DNA No translation available.
AK056637 mRNA Translation: BAG51770.1
CCDSiCCDS10769.1 [Q8N1F7-1]
CCDS55996.1 [Q8N1F7-2]
RefSeqiNP_001229724.1, NM_001242795.1 [Q8N1F7-2]
NP_001229725.1, NM_001242796.2 [Q8N1F7-2]
NP_055484.3, NM_014669.4 [Q8N1F7-1]
XP_005256320.1, XM_005256263.3 [Q8N1F7-1]
UniGeneiHs.276878

Genome annotation databases

EnsembliENST00000308159; ENSP00000310668; ENSG00000102900 [Q8N1F7-1]
ENST00000542526; ENSP00000440235; ENSG00000102900 [Q8N1F7-2]
ENST00000564887; ENSP00000458039; ENSG00000102900 [Q8N1F7-2]
GeneIDi9688
KEGGihsa:9688
UCSCiuc002eka.4 human [Q8N1F7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNUP93_HUMAN
AccessioniPrimary (citable) accession number: Q8N1F7
Secondary accession number(s): B3KPQ8, Q14705
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: October 17, 2006
Last modified: April 25, 2018
This is version 148 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health