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Entry version 177 (02 Dec 2020)
Sequence version 2 (08 Nov 2002)
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Protein

Nuclear pore complex protein Nup88

Gene

NUP88

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of nuclear pore complex.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processmRNA transport, Protein transport, Translocation, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q99567

Reactome - a knowledgebase of biological pathways and processes

More...
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

Transport Classification Database

More...
TCDBi
1.I.1.1.3, the nuclear pore complex (npc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Nuclear pore complex protein Nup88
Alternative name(s):
88 kDa nucleoporin
Nucleoporin Nup88
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NUP88
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

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EuPathDBi
HostDB:ENSG00000108559.11

Human Gene Nomenclature Database

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HGNCi
HGNC:8067, NUP88

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602552, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q99567

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nuclear pore complex, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_082159434D → 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_082160509 – 741Missing in FADS4; decreased localization to the nuclear pore complex; decreased interaction with NUP214 and NUP62. 1 PublicationAdd BLAST233
Natural variantiVAR_082161634Missing in FADS4; decreased localization to the nuclear pore complex; decreased interaction with NUP214 and NUP62. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
4927

MalaCards human disease database

More...
MalaCardsi
NUP88
MIMi618393, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000108559

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
994, Fetal akinesia deformation sequence

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31855

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q99567, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
NUP88

Domain mapping of disease mutations (DMDM)

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DMDMi
25008854

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002048872 – 741Nuclear pore complex protein Nup88Add BLAST740

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei35PhosphoserineCombined sources1
Modified residuei50PhosphoserineCombined sources1
Modified residuei379PhosphoserineCombined sources1
Modified residuei437PhosphoserineCombined sources1
Modified residuei442PhosphoserineCombined sources1
Modified residuei517PhosphoserineCombined sources1
Modified residuei525PhosphothreonineCombined sources1
Modified residuei540PhosphoserineCombined sources1
Modified residuei698PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q99567

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q99567

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q99567

MaxQB - The MaxQuant DataBase

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MaxQBi
Q99567

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q99567

PeptideAtlas

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PeptideAtlasi
Q99567

PRoteomics IDEntifications database

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PRIDEi
Q99567

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
78327

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q99567

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q99567

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000108559, Expressed in testis and 231 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q99567, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q99567, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000108559, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NUP214/CAN (PubMed:9049309, PubMed:30543681).

Interacts with NUP62 and NUP98 (PubMed:30543681).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
110981, 64 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-873, Nuclear pore complex

Protein interaction database and analysis system

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IntActi
Q99567, 42 interactors

Molecular INTeraction database

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MINTi
Q99567

STRING: functional protein association networks

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STRINGi
9606.ENSP00000458954

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q99567, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q99567

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili585 – 651Sequence analysisAdd BLAST67

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4460, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000015063

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q99567

Identification of Orthologs from Complete Genome Data

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OMAi
SCSIMCL

Database of Orthologous Groups

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OrthoDBi
1149034at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q99567

TreeFam database of animal gene trees

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TreeFami
TF105307

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR019321, Nucleoporin_Nup88
IPR037700, NUP88/NUP82

The PANTHER Classification System

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PANTHERi
PTHR13257, PTHR13257, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF10168, Nup88, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q99567-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:741
Mass (Da):83,542
Last modified:November 8, 2002 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i954A8E2E203BC20B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KMX1J3KMX1_HUMAN
Nuclear pore complex protein Nup88
NUP88
696Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L4K7I3L4K7_HUMAN
Nuclear pore complex protein Nup88
NUP88
110Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L245I3L245_HUMAN
Nuclear pore complex protein Nup88
NUP88
153Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L2W3I3L2W3_HUMAN
Nuclear pore complex protein Nup88
NUP88
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti247A → D in CAA69904 (PubMed:9049309).Curated1
Sequence conflicti291 – 301GKLLGPLPMHP → WKAVGSIAHAS in CAA69904 (PubMed:9049309).CuratedAdd BLAST11
Sequence conflicti456K → R in CAA69904 (PubMed:9049309).Curated1
Sequence conflicti518P → S in CAA69904 (PubMed:9049309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029340289N → S. Corresponds to variant dbSNP:rs1806245Ensembl.1
Natural variantiVAR_082159434D → 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_082160509 – 741Missing in FADS4; decreased localization to the nuclear pore complex; decreased interaction with NUP214 and NUP62. 1 PublicationAdd BLAST233
Natural variantiVAR_082161634Missing in FADS4; decreased localization to the nuclear pore complex; decreased interaction with NUP214 and NUP62. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS11070.1

NCBI Reference Sequences

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RefSeqi
NP_001307582.1, NM_001320653.1
NP_002523.2, NM_002532.5

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000573584; ENSP00000458954; ENSG00000108559

Database of genes from NCBI RefSeq genomes

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GeneIDi
4927

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4927

UCSC genome browser

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UCSCi
uc002gbo.3, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS11070.1
RefSeqiNP_001307582.1, NM_001320653.1
NP_002523.2, NM_002532.5

3D structure databases

SMRiQ99567
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110981, 64 interactors
ComplexPortaliCPX-873, Nuclear pore complex
IntActiQ99567, 42 interactors
MINTiQ99567
STRINGi9606.ENSP00000458954

Protein family/group databases

TCDBi1.I.1.1.3, the nuclear pore complex (npc) family

PTM databases

iPTMnetiQ99567
PhosphoSitePlusiQ99567

Polymorphism and mutation databases

BioMutaiNUP88
DMDMi25008854

Proteomic databases

EPDiQ99567
jPOSTiQ99567
MassIVEiQ99567
MaxQBiQ99567
PaxDbiQ99567
PeptideAtlasiQ99567
PRIDEiQ99567
ProteomicsDBi78327

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
3693, 189 antibodies

Genome annotation databases

EnsembliENST00000573584; ENSP00000458954; ENSG00000108559
GeneIDi4927
KEGGihsa:4927
UCSCiuc002gbo.3, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4927
DisGeNETi4927
EuPathDBiHostDB:ENSG00000108559.11

GeneCards: human genes, protein and diseases

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GeneCardsi
NUP88
HGNCiHGNC:8067, NUP88
HPAiENSG00000108559, Low tissue specificity
MalaCardsiNUP88
MIMi602552, gene
618393, phenotype
neXtProtiNX_Q99567
OpenTargetsiENSG00000108559
Orphaneti994, Fetal akinesia deformation sequence
PharmGKBiPA31855

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG4460, Eukaryota
GeneTreeiENSGT00390000015063
InParanoidiQ99567
OMAiSCSIMCL
OrthoDBi1149034at2759
PhylomeDBiQ99567
TreeFamiTF105307

Enzyme and pathway databases

PathwayCommonsiQ99567
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-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 ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
4927, 673 hits in 848 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
NUP88, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
NUP88

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
4927
PharosiQ99567, Tbio

Protein Ontology

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PROi
PR:Q99567
RNActiQ99567, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000108559, Expressed in testis and 231 other tissues
ExpressionAtlasiQ99567, baseline and differential
GenevisibleiQ99567, HS

Family and domain databases

InterProiView protein in InterPro
IPR019321, Nucleoporin_Nup88
IPR037700, NUP88/NUP82
PANTHERiPTHR13257, PTHR13257, 1 hit
PfamiView protein in Pfam
PF10168, Nup88, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNUP88_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99567
Secondary accession number(s): D3DTM2, Q9BWE5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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Main funding by: National Institutes of Health

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