NUP88
Nuclear pore complex protein Nup88
Also known as: MGC8530, NUP88_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99567
- Gene
- NUP88
- Ensembl
- ENSG00000108559
- Chromosome
- 17
- Canonical length
- 741 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
Canonical amino-acid sequenceUniProt
741 residues, UniProt reviewed canonical sequence.
>Q99567|NUP88
1 MAAAEGPVGD GELWQTWLPN HVVFLRLREG LKNQSPTEAE KPASSSLPSS PPPQLLTRNV
61 VFGLGGELFL WDGEDSSFLV VRLRGPSGGG EEPALSQYQR LLCINPPLFE IYQVLLSPTQ
121 HHVALIGIKG LMVLELPKRW GKNSEFEGGK STVNCSTTPV AERFFTSSTS LTLKHAAWYP
181 SEILDPHVVL LTSDNVIRIY SLREPQTPTN VIILSEAEEE SLVLNKGRAY TASLGETAVA
241 FDFGPLAAVP KTLFGQNGKD EVVAYPLYIL YENGETFLTY ISLLHSPGNI GKLLGPLPMH
301 PAAEDNYGYD ACAVLCLPCV PNILVIATES GMLYHCVVLE GEEEDDHTSE KSWDSRIDLI
361 PSLYVFECVE LELALKLASG EDDPFDSDFS CPVKLHRDPK CPSRYHCTHE AGVHSVGLTW
421 IHKLHKFLGS DEEDKDSLQE LSTEQKCFVE HILCTKPLPC RQPAPIRGFW IVPDILGPTM
481 ICITSTYECL IWPLLSTVHP ASPPLLCTRE DVEVAESPLR VLAETPDSFE KHIRSILQRS
541 VANPAFLKAS EKDIAPPPEE CLQLLSRATQ VFREQYILKQ DLAKEEIQRR VKLLCDQKKK
601 QLEDLSYCRE ERKSLREMAE RLADKYEEAK EKQEDIMNRM KKLLHSFHSE LPVLSDSERD
661 MKKELQLIPD QLRHLGNAIK QVTMKKDYQQ QKMEKVLSLP KPTIILSAYQ RKCIQSILKE
721 EGEHIREMVK QINDIRNHVN FLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NUP88 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 47 nTPM
Expression across tissuesHPA
Tissue
- testis: 47 nTPM
- skeletal muscle: 32 nTPM
- tonsil: 27 nTPM
- tongue: 25 nTPM
- thymus: 24 nTPM
- liver: 22 nTPM
Single-cell type
- endometrial glandular cells: 267 nCPM
- late primary spermatocytes: 245 nCPM
- endometrial luminal cells: 198 nCPM
- b-cells: 194 nCPM
- epicardial cells: 166 nCPM
- myonuclei: 161 nCPM
Immune cell
- memory B-cell: 40 nTPM
- naive B-cell: 36 nTPM
- NK-cell: 21 nTPM
- T-reg: 18 nTPM
- non-classical monocyte: 17 nTPM
- naive CD8 T-cell: 16 nTPM
Brain region
- cerebellum: 19 nTPM
- cerebral cortex: 13 nTPM
- white matter: 12 nTPM
- medulla oblongata: 11 nTPM
- pons: 11 nTPM
- hippocampal formation: 11 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NUP88.
Disease | AllUniProt
Conditions NUP88 is implicated in, by any mechanism.
- Fetal akinesia deformation sequence 4 (FADS4) MIM:618393
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 170 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Fetal akinesia deformation sequence 4
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.69
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.53
- DepMap mean gene effect
- -1.52
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- mRNA export from nucleus
- nucleocytoplasmic transport
- protein import into nucleus
- ribosomal large subunit export from nucleus
- ribosomal small subunit export from nucleus
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Nucleoporin Nup88
- Nucleoporin NUP88/NUP82
- Nuclear pore component
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NUP88 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NUP88 as an antibody target. Whether an autoantibody or antibody against NUP88 could matter depends on whether native NUP88 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NUP88 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NUP88 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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