UniProtKB - Q99567 (NUP88_HUMAN)
Protein
Nuclear pore complex protein Nup88
Gene
NUP88
Organism
Homo sapiens (Human)
Status
Functioni
Component of nuclear pore complex.1 Publication
GO - Molecular functioni
- structural constituent of nuclear pore Source: InterPro
- transporter activity Source: ProtInc
GO - Biological processi
- intracellular transport of virus Source: Reactome
- mitotic cell cycle Source: Ensembl
- mRNA export from nucleus Source: GO_Central
- protein export from nucleus Source: GO_Central
- protein import into nucleus Source: GO_Central
- 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
- ribosomal large subunit export from nucleus Source: GO_Central
- ribosomal small subunit export from nucleus Source: GO_Central
- tRNA export from nucleus Source: Reactome
- viral process Source: Reactome
- viral transcription Source: Reactome
Keywordsi
Biological process | mRNA transport, Protein transport, Translocation, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q99567 |
Reactomei | R-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-5619107, Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) R-HSA-6784531, tRNA processing in the nucleus R-HSA-9609690, HCMV Early Events R-HSA-9610379, HCMV Late Events |
Protein family/group databases
TCDBi | 1.I.1.1.3, the nuclear pore complex (npc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Nuclear pore complex protein Nup88Alternative name(s): 88 kDa nucleoporin Nucleoporin Nup88 |
Gene namesi | Name:NUP88 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000108559.11 |
HGNCi | HGNC:8067, NUP88 |
MIMi | 602552, gene |
neXtProti | NX_Q99567 |
Subcellular locationi
Nucleus
- nuclear pore complex 1 Publication
Cytosol
- cytosol Source: Reactome
Nucleus
- nuclear pore Source: UniProtKB
- nucleoplasm Source: HPA
Other locations
- host cell Source: GOC
Keywords - Cellular componenti
Nuclear pore complex, NucleusPathology & Biotechi
Involvement in diseasei
Fetal akinesia deformation sequence 4 (FADS4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Disease mechanism likely includes impaired formation of the neuromuscular junction. NUP88 silencing in vitro results in reduced levels of rapsyn, a key player in clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. Decreased rapsyn levels have also been observed in a patient muscle biopsy.1 Publication
Disease descriptionA clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS4 inheritance is autosomal recessive.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082159 | 434 | D → Y in FADS4; no effect on localization to the nuclear pore complex; no effect on interaction with NUP214 and NUP62. 1 PublicationCorresponds to variant dbSNP:rs1567568217EnsemblClinVar. | 1 | |
Natural variantiVAR_082160 | 509 – 741 | Missing in FADS4; decreased localization to the nuclear pore complex; decreased interaction with NUP214 and NUP62. 1 PublicationAdd BLAST | 233 | |
Natural variantiVAR_082161 | 634 | Missing in FADS4; decreased localization to the nuclear pore complex; decreased interaction with NUP214 and NUP62. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 4927 |
MalaCardsi | NUP88 |
MIMi | 618393, phenotype |
OpenTargetsi | ENSG00000108559 |
Orphaneti | 994, Fetal akinesia deformation sequence |
PharmGKBi | PA31855 |
Miscellaneous databases
Pharosi | Q99567, Tbio |
Polymorphism and mutation databases
BioMutai | NUP88 |
DMDMi | 25008854 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000204887 | 2 – 741 | Nuclear pore complex protein Nup88Add BLAST | 740 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 35 | PhosphoserineCombined sources | 1 | |
Modified residuei | 50 | PhosphoserineCombined sources | 1 | |
Modified residuei | 379 | PhosphoserineCombined sources | 1 | |
Modified residuei | 437 | PhosphoserineCombined sources | 1 | |
Modified residuei | 442 | PhosphoserineCombined sources | 1 | |
Modified residuei | 517 | PhosphoserineCombined sources | 1 | |
Modified residuei | 525 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 540 | PhosphoserineCombined sources | 1 | |
Modified residuei | 698 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q99567 |
jPOSTi | Q99567 |
MassIVEi | Q99567 |
MaxQBi | Q99567 |
PaxDbi | Q99567 |
PeptideAtlasi | Q99567 |
PRIDEi | Q99567 |
ProteomicsDBi | 78327 |
PTM databases
iPTMneti | Q99567 |
PhosphoSitePlusi | Q99567 |
Expressioni
Tissue specificityi
Ubiquitous.
Gene expression databases
Bgeei | ENSG00000108559, Expressed in testis and 231 other tissues |
ExpressionAtlasi | Q99567, baseline and differential |
Genevisiblei | Q99567, HS |
Organism-specific databases
HPAi | ENSG00000108559, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 110981, 64 interactors |
ComplexPortali | CPX-873, Nuclear pore complex |
IntActi | Q99567, 42 interactors |
MINTi | Q99567 |
STRINGi | 9606.ENSP00000458954 |
Miscellaneous databases
RNActi | Q99567, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 585 – 651 | Sequence analysisAdd BLAST | 67 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG4460, Eukaryota |
GeneTreei | ENSGT00390000015063 |
InParanoidi | Q99567 |
OMAi | SCSIMCL |
OrthoDBi | 1149034at2759 |
PhylomeDBi | Q99567 |
TreeFami | TF105307 |
Family and domain databases
InterProi | View protein in InterPro IPR019321, Nucleoporin_Nup88 IPR037700, NUP88/NUP82 |
PANTHERi | PTHR13257, PTHR13257, 1 hit |
Pfami | View protein in Pfam PF10168, Nup88, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
Q99567-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAAAEGPVGD GELWQTWLPN HVVFLRLREG LKNQSPTEAE KPASSSLPSS
60 70 80 90 100
PPPQLLTRNV VFGLGGELFL WDGEDSSFLV VRLRGPSGGG EEPALSQYQR
110 120 130 140 150
LLCINPPLFE IYQVLLSPTQ HHVALIGIKG LMVLELPKRW GKNSEFEGGK
160 170 180 190 200
STVNCSTTPV AERFFTSSTS LTLKHAAWYP SEILDPHVVL LTSDNVIRIY
210 220 230 240 250
SLREPQTPTN VIILSEAEEE SLVLNKGRAY TASLGETAVA FDFGPLAAVP
260 270 280 290 300
KTLFGQNGKD EVVAYPLYIL YENGETFLTY ISLLHSPGNI GKLLGPLPMH
310 320 330 340 350
PAAEDNYGYD ACAVLCLPCV PNILVIATES GMLYHCVVLE GEEEDDHTSE
360 370 380 390 400
KSWDSRIDLI PSLYVFECVE LELALKLASG EDDPFDSDFS CPVKLHRDPK
410 420 430 440 450
CPSRYHCTHE AGVHSVGLTW IHKLHKFLGS DEEDKDSLQE LSTEQKCFVE
460 470 480 490 500
HILCTKPLPC RQPAPIRGFW IVPDILGPTM ICITSTYECL IWPLLSTVHP
510 520 530 540 550
ASPPLLCTRE DVEVAESPLR VLAETPDSFE KHIRSILQRS VANPAFLKAS
560 570 580 590 600
EKDIAPPPEE CLQLLSRATQ VFREQYILKQ DLAKEEIQRR VKLLCDQKKK
610 620 630 640 650
QLEDLSYCRE ERKSLREMAE RLADKYEEAK EKQEDIMNRM KKLLHSFHSE
660 670 680 690 700
LPVLSDSERD MKKELQLIPD QLRHLGNAIK QVTMKKDYQQ QKMEKVLSLP
710 720 730 740
KPTIILSAYQ RKCIQSILKE EGEHIREMVK QINDIRNHVN F
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3KMX1 | J3KMX1_HUMAN | Nuclear pore complex protein Nup88 | NUP88 | 696 | Annotation score: | ||
I3L4K7 | I3L4K7_HUMAN | Nuclear pore complex protein Nup88 | NUP88 | 110 | Annotation score: | ||
I3L245 | I3L245_HUMAN | Nuclear pore complex protein Nup88 | NUP88 | 153 | Annotation score: | ||
I3L2W3 | I3L2W3_HUMAN | Nuclear pore complex protein Nup88 | NUP88 | 128 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 247 | A → D in CAA69904 (PubMed:9049309).Curated | 1 | |
Sequence conflicti | 291 – 301 | GKLLGPLPMHP → WKAVGSIAHAS in CAA69904 (PubMed:9049309).CuratedAdd BLAST | 11 | |
Sequence conflicti | 456 | K → R in CAA69904 (PubMed:9049309).Curated | 1 | |
Sequence conflicti | 518 | P → S in CAA69904 (PubMed:9049309).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029340 | 289 | N → S. Corresponds to variant dbSNP:rs1806245Ensembl. | 1 | |
Natural variantiVAR_082159 | 434 | D → Y in FADS4; no effect on localization to the nuclear pore complex; no effect on interaction with NUP214 and NUP62. 1 PublicationCorresponds to variant dbSNP:rs1567568217EnsemblClinVar. | 1 | |
Natural variantiVAR_082160 | 509 – 741 | Missing in FADS4; decreased localization to the nuclear pore complex; decreased interaction with NUP214 and NUP62. 1 PublicationAdd BLAST | 233 | |
Natural variantiVAR_082161 | 634 | Missing in FADS4; decreased localization to the nuclear pore complex; decreased interaction with NUP214 and NUP62. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y08612 mRNA Translation: CAA69904.1 CH471108 Genomic DNA Translation: EAW90340.1 CH471108 Genomic DNA Translation: EAW90342.1 BC000335 mRNA Translation: AAH00335.1 |
CCDSi | CCDS11070.1 |
RefSeqi | NP_001307582.1, NM_001320653.1 NP_002523.2, NM_002532.5 |
Genome annotation databases
Ensembli | ENST00000573584; ENSP00000458954; ENSG00000108559 |
GeneIDi | 4927 |
KEGGi | hsa:4927 |
UCSCi | uc002gbo.3, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y08612 mRNA Translation: CAA69904.1 CH471108 Genomic DNA Translation: EAW90340.1 CH471108 Genomic DNA Translation: EAW90342.1 BC000335 mRNA Translation: AAH00335.1 |
CCDSi | CCDS11070.1 |
RefSeqi | NP_001307582.1, NM_001320653.1 NP_002523.2, NM_002532.5 |
3D structure databases
SMRi | Q99567 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110981, 64 interactors |
ComplexPortali | CPX-873, Nuclear pore complex |
IntActi | Q99567, 42 interactors |
MINTi | Q99567 |
STRINGi | 9606.ENSP00000458954 |
Protein family/group databases
TCDBi | 1.I.1.1.3, the nuclear pore complex (npc) family |
PTM databases
iPTMneti | Q99567 |
PhosphoSitePlusi | Q99567 |
Polymorphism and mutation databases
BioMutai | NUP88 |
DMDMi | 25008854 |
Proteomic databases
EPDi | Q99567 |
jPOSTi | Q99567 |
MassIVEi | Q99567 |
MaxQBi | Q99567 |
PaxDbi | Q99567 |
PeptideAtlasi | Q99567 |
PRIDEi | Q99567 |
ProteomicsDBi | 78327 |
Protocols and materials databases
Antibodypediai | 3693, 189 antibodies |
Genome annotation databases
Ensembli | ENST00000573584; ENSP00000458954; ENSG00000108559 |
GeneIDi | 4927 |
KEGGi | hsa:4927 |
UCSCi | uc002gbo.3, human |
Organism-specific databases
CTDi | 4927 |
DisGeNETi | 4927 |
EuPathDBi | HostDB:ENSG00000108559.11 |
GeneCardsi | NUP88 |
HGNCi | HGNC:8067, NUP88 |
HPAi | ENSG00000108559, Low tissue specificity |
MalaCardsi | NUP88 |
MIMi | 602552, gene 618393, phenotype |
neXtProti | NX_Q99567 |
OpenTargetsi | ENSG00000108559 |
Orphaneti | 994, Fetal akinesia deformation sequence |
PharmGKBi | PA31855 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4460, Eukaryota |
GeneTreei | ENSGT00390000015063 |
InParanoidi | Q99567 |
OMAi | SCSIMCL |
OrthoDBi | 1149034at2759 |
PhylomeDBi | Q99567 |
TreeFami | TF105307 |
Enzyme and pathway databases
PathwayCommonsi | Q99567 |
Reactomei | R-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-5619107, Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) R-HSA-6784531, tRNA processing in the nucleus R-HSA-9609690, HCMV Early Events R-HSA-9610379, HCMV Late Events |
Miscellaneous databases
BioGRID-ORCSi | 4927, 673 hits in 848 CRISPR screens |
ChiTaRSi | NUP88, human |
GeneWikii | NUP88 |
GenomeRNAii | 4927 |
Pharosi | Q99567, Tbio |
PROi | PR:Q99567 |
RNActi | Q99567, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000108559, Expressed in testis and 231 other tissues |
ExpressionAtlasi | Q99567, baseline and differential |
Genevisiblei | Q99567, HS |
Family and domain databases
InterProi | View protein in InterPro IPR019321, Nucleoporin_Nup88 IPR037700, NUP88/NUP82 |
PANTHERi | PTHR13257, PTHR13257, 1 hit |
Pfami | View protein in Pfam PF10168, Nup88, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NUP88_HUMAN | |
Accessioni | Q99567Primary (citable) accession number: Q99567 Secondary accession number(s): D3DTM2, Q9BWE5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 8, 2002 |
Last sequence update: | November 8, 2002 | |
Last modified: | December 2, 2020 | |
This is version 177 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations