NUP88 (nucleoporin 88)

Gene

• Entrez ID: 4927
• Gene name: Nucleoporin 88
• Gene symbol: NUP88
• Synonyms: FADS4
• Chromosome: 17
• Chromosome location: 17p13.2
• Summary: 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 compone

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs774070092	G>A	Pathogenic	Stop gained, coding sequence variant
rs776532930	CTT>-	Pathogenic	Inframe deletion, coding sequence variant
rs1567568217	C>A	Pathogenic	Coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000055	Process	Ribosomal large subunit export from nucleus	IBA	21873635
GO:0000056	Process	Ribosomal small subunit export from nucleus	IBA	21873635
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0005215	Function	Transporter activity	TAS	9049309
GO:0005515	Function	Protein binding	IPI	28514442, 30543681, 32296183
GO:0005643	Component	Nuclear pore	IBA	21873635
GO:0005643	Component	Nuclear pore	IDA	23777819, 30543681
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006110	Process	Regulation of glycolytic process	TAS
GO:0006406	Process	MRNA export from nucleus	IBA	21873635
GO:0006406	Process	MRNA export from nucleus	TAS
GO:0006409	Process	TRNA export from nucleus	TAS
GO:0006606	Process	Protein import into nucleus	IBA	21873635
GO:0016032	Process	Viral process	TAS
GO:0016925	Process	Protein sumoylation	TAS
GO:0017056	Function	Structural constituent of nuclear pore	IEA
GO:0019083	Process	Viral transcription	TAS
GO:0043657	Component	Host cell	IEA
GO:0060964	Process	Regulation of gene silencing by miRNA	TAS
GO:0075733	Process	Intracellular transport of virus	TAS
GO:1900034	Process	Regulation of cellular response to heat	TAS

Other IDs

• MIM: 602552
• HGNC: 8067
• e!Ensembl: ENSG00000108559

Protein

• UniProt ID: Q99567
• Protein name: Nuclear pore complex protein Nup88 (88 kDa nucleoporin) (Nucleoporin Nup88)
• Protein function: Component of nuclear pore complex.
• PDB: 7MNI, 7R5J, 7R5K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10168	Nup88	13 → 740	Nuclear pore component	Family

• Sequence:

  MAAAEGPVGDGELWQTWLPNHVVFLRLREGLKNQSPTEAEKPASSSLPSSPPPQLLTRNV
  VFGLGGELFLWDGEDSSFLVVRLRGPSGGGEEPALSQYQRLLCINPPLFEIYQVLLSPTQ
  HHVALIGIKGLMVLELPKRWGKNSEFEGGKSTVNCSTTPVAERFFTSSTSLTLKHAAWYP
  SEILDPHVVLLTSDNVIRIYSLREPQTPTNVIILSEAEEESLVLNKGRAYTASLGETAVA
  FDFGPLAAVPKTLFGQNGKDEVVAYPLYILYENGETFLTYISLLHSPGNIGKLLGPLPMH
  PAAEDNYGYDACAVLCLPCVPNILVIATESGMLYHCVVLEGEEEDDHTSEKSWDSRIDLI
  PSLYVFECVELELALKLASGEDDPFDSDFSCPVKLHRDPKCPSRYHCTHEAGVHSVGLTW
  IHKLHKFLGSDEEDKDSLQELSTEQKCFVEHILCTKPLPCRQPAPIRGFWIVPDILGPTM
  ICITSTYECLIWPLLSTVHPASPPLLCTREDVEVAESPLRVLAETPDSFEKHIRSILQRS
  VANPAFLKASEKDIAPPPEECLQLLSRATQVFREQYILKQDLAKEEIQRRVKLLCDQKKK
  QLEDLSYCREERKSLREMAERLADKYEEAKEKQEDIMNRMKKLLHSFHSELPVLSDSERD
  MKKELQLIPDQLRHLGNAIKQVTMKKDYQQQKMEKVLSLPKPTIILSAYQRKCIQSILKE
  EGEHIREMVKQINDIRNHVNF

• Sequence length: 741

Pathways

KEGG:

Nucleocytoplasmic transport
Amyotrophic lateral sclerosis

Reactome:

ISG15 antiviral mechanism
Transport of the SLBP independent Mature mRNA
Transport of the SLBP Dependant Mature mRNA
Transport of Mature mRNA Derived from an Intronless Transcript
Transport of Mature mRNA derived from an Intron-Containing Transcript
Rev-mediated nuclear export of HIV RNA
Transport of Ribonucleoproteins into the Host Nucleus
NS1 Mediated Effects on Host Pathways
Viral Messenger RNA Synthesis
NEP/NS2 Interacts with the Cellular Export Machinery
Regulation of Glucokinase by Glucokinase Regulatory Protein
Vpr-mediated nuclear import of PICs
snRNP Assembly
SUMOylation of DNA damage response and repair proteins
SUMOylation of ubiquitinylation proteins
Nuclear Pore Complex (NPC) Disassembly
Regulation of HSF1-mediated heat shock response
SUMOylation of SUMOylation proteins
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
SUMOylation of DNA replication proteins
Transcriptional regulation by small RNAs
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
tRNA processing in the nucleus
HCMV Early Events
HCMV Late Events

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Akinesia	Akinesia	rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335, rs751889864, rs559933584, rs761899995, rs797045528, rs551423795, rs886037842, rs560525099, rs775583136, rs1349476281, rs794727884, rs1479498379, rs1555142142, rs1558010146, rs1558003446, rs1554757237, rs770987150, rs768892432, rs1558008455, rs1560224831, rs1558005340, rs747595523, rs1567568217, rs774070092, rs776532930, rs765096923, rs1560200925, rs201947904, rs1595903667, rs376573993, rs778172294, rs759488854, rs761584017, rs769850502
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	30423114, 24390342
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Amyotrophy	Generalized amyotrophy
Congenital camptodactyly	Congenital Camptodactyly
Pulmonary hypoplasia	Congenital hypoplasia of lung	rs1569032634
Dandy-walker syndrome	Dandy-Walker Syndrome
Fetal akinesia deformation sequence	Fetal akinesia deformation sequence
High palate	Byzanthine arch palate
Cystic hygroma	Lymphangioma, Cystic
Micrognathism	Micrognathism
Pena shokeir syndrome	Pena-Shokeir syndrome type I		30543681
Posteriorly rotated ear	Posteriorly rotated ear
Pterygium	Pterygium
Vertical talus	Vertical Talus