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UniProtKB - Q8N1F7 (NUP93_HUMAN)

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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

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-3232142 SUMOylation of ubiquitinylation proteins
R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453 Regulation of HSF1-mediated heat shock response
R-HSA-4085377 SUMOylation of SUMOylation proteins
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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
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:rs145146218EnsemblClinVar.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:rs145473779EnsemblClinVar.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:rs757674160EnsemblClinVar.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
ProteomicsDBi71593
71594 [Q8N1F7-2]

PTM databases

iPTMnetiQ8N1F7
PhosphoSitePlusiQ8N1F7
SwissPalmiQ8N1F7

Expressioni

Gene expression databases

BgeeiENSG00000102900 Expressed in 214 organ(s), highest expression level in left lobe of thyroid gland
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

Protein-protein interaction databases

BioGridi115041, 82 interactors
CORUMiQ8N1F7
DIPiDIP-44020N
IntActiQ8N1F7, 55 interactors
MINTiQ8N1F7
STRINGi9606.ENSP00000310668

Structurei

3D structure databases

ProteinModelPortaliQ8N1F7
SMRiQ8N1F7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the nucleoporin interacting component (NIC) family.Curated

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

This entry has 2 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BVG0H3BVG0_HUMAN
Nuclear pore complex protein Nup93
NUP93
880Annotation score:
H3BVE2H3BVE2_HUMAN
Nuclear pore complex protein Nup93
NUP93
117Annotation score:
H3BV15H3BV15_HUMAN
Nuclear pore complex protein Nup93
NUP93
84Annotation score:
H3BP95H3BP95_HUMAN
Nuclear pore complex protein Nup93
NUP93
156Annotation score:
H3BRD9H3BRD9_HUMAN
Nuclear pore complex protein Nup93
NUP93
140Annotation score:
H3BPA9H3BPA9_HUMAN
Nuclear pore complex protein Nup93
NUP93
229Annotation score:
H3BMX0H3BMX0_HUMAN
Nuclear pore complex protein Nup93
NUP93
125Annotation score:
H3BRI8H3BRI8_HUMAN
Nuclear pore complex protein Nup93
NUP93
151Annotation score:
H3BV11H3BV11_HUMAN
Nuclear pore complex protein Nup93
NUP93
136Annotation score:
H3BNN5H3BNN5_HUMAN
Nuclear pore complex protein Nup93
NUP93
132Annotation score:
There are more potential isoformsShow all

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:rs145146218EnsemblClinVar.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:rs145473779EnsemblClinVar.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:rs757674160EnsemblClinVar.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

Cross-referencesi

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

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...

Protein-protein interaction databases

BioGridi115041, 82 interactors
CORUMiQ8N1F7
DIPiDIP-44020N
IntActiQ8N1F7, 55 interactors
MINTiQ8N1F7
STRINGi9606.ENSP00000310668

Protein family/group databases

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

PTM databases

iPTMnetiQ8N1F7
PhosphoSitePlusiQ8N1F7
SwissPalmiQ8N1F7

Polymorphism and mutation databases

BioMutaiNUP93
DMDMi116242684

Proteomic databases

EPDiQ8N1F7
MaxQBiQ8N1F7
PaxDbiQ8N1F7
PeptideAtlasiQ8N1F7
PRIDEiQ8N1F7
ProteomicsDBi71593
71594 [Q8N1F7-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi9688
DisGeNETi9688
EuPathDBiHostDB:ENSG00000102900.12
GeneCardsiNUP93
HGNCiHGNC:28958 NUP93
HPAiHPA017937
MalaCardsiNUP93
MIMi614351 gene
616892 phenotype
neXtProtiNX_Q8N1F7
OpenTargetsiENSG00000102900
PharmGKBiPA134912759
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2168 Eukaryota
ENOG410XPN3 LUCA
GeneTreeiENSGT00390000016353
HOGENOMiHOG000007350
HOVERGENiHBG052701
InParanoidiQ8N1F7
KOiK14309
PhylomeDBiQ8N1F7
TreeFamiTF315118

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-3232142 SUMOylation of ubiquitinylation proteins
R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453 Regulation of HSF1-mediated heat shock response
R-HSA-4085377 SUMOylation of SUMOylation proteins
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

Miscellaneous databases

ChiTaRSiNUP93 human
GeneWikiiNUP93
GenomeRNAii9688
PROiPR:Q8N1F7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102900 Expressed in 214 organ(s), highest expression level in left lobe of thyroid gland
CleanExiHS_NUP93
ExpressionAtlasiQ8N1F7 baseline and differential
GenevisibleiQ8N1F7 HS

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
ProtoNetiSearch...

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: September 12, 2018
This is version 152 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

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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