ID  Q99567;
PN  Nuclear pore complex protein Nup88;
GN  NUP88;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0185;
SL  Comments: Nucleus, nuclear pore complex {ECO:0000269|PubMed:30543681}.
DR  UNIPROT: Q99567;
DR  UNIPROT: D3DTM2;
DR  UNIPROT: Q9BWE5;
DR  Pfam: PF10168;
DR  OMIM: 602552;
DR  OMIM: 618393;
DR  DisGeNET: 4927;
DE  Function: Component of nuclear pore complex. {ECO:0000269|PubMed:30543681}.
DE  Disease: Fetal akinesia deformation sequence 4 (FADS4) [MIM:618393]: A 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. {ECO:0000269|PubMed:30543681}. Note=The disease is caused by variants 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. {ECO:0000269|PubMed:30543681}.
DE  Reference Proteome: Yes;
DE  Interaction: P0DTD1; IntAct: EBI-25491191; Score: 0.53
DE  Interaction: P35658; IntAct: EBI-20936668; Score: 0.40
DE  Interaction: P37198; IntAct: EBI-24419613; Score: 0.67
DE  Interaction: P49790; IntAct: EBI-11076796; Score: 0.35
DE  Interaction: P52948; IntAct: EBI-21639337; Score: 0.35
DE  Interaction: P57740; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q14974; IntAct: EBI-11115566; Score: 0.35
DE  Interaction: Q6PFD9; IntAct: EBI-10994876; Score: 0.35
DE  Interaction: Q6ZQH8; IntAct: EBI-2563113; Score: 0.56
DE  Interaction: Q80U93; IntAct: EBI-2555228; Score: 0.56
DE  Interaction: Q8BH74; IntAct: EBI-10997196; Score: 0.35
DE  Interaction: Q8CEC0; IntAct: EBI-2562665; Score: 0.40
DE  Interaction: Q8WYP5; IntAct: EBI-9050350; Score: 0.40
DE  Interaction: Q96EE3; IntAct: EBI-11086798; Score: 0.35
DE  Interaction: P27701; IntAct: EBI-737252; Score: 0.00
DE  Interaction: P24386; IntAct: EBI-2515120; Score: 0.40
DE  Interaction: Q8K2X3; IntAct: EBI-2562811; Score: 0.40
DE  Interaction: Q9GZQ8; IntAct: EBI-3045543; Score: 0.35
DE  Interaction: P60520; IntAct: EBI-3046676; Score: 0.35
DE  Interaction: Q9H0R8; IntAct: EBI-3048562; Score: 0.35
DE  Interaction: O95166; IntAct: EBI-3050465; Score: 0.35
DE  Interaction: Q9UBU9; IntAct: EBI-6262548; Score: 0.35
DE  Interaction: Q86VP6; IntAct: EBI-21322532; Score: 0.35
DE  Interaction: Q13617; IntAct: EBI-21327106; Score: 0.35
DE  Interaction: Q13618; IntAct: EBI-21329068; Score: 0.35
DE  Interaction: P33993; IntAct: EBI-6875195; Score: 0.35
DE  Interaction: Q9ERU9; IntAct: EBI-10999306; Score: 0.35
DE  Interaction: Q8VE37; IntAct: EBI-11043815; Score: 0.35
DE  Interaction: P63280; IntAct: EBI-11044140; Score: 0.35
DE  Interaction: Q8N137; IntAct: EBI-11392655; Score: 0.27
DE  Interaction: Q9UBB9; IntAct: EBI-24429402; Score: 0.56
DE  Interaction: O43314; IntAct: EBI-11901203; Score: 0.00
DE  Interaction: O95487; IntAct: EBI-11904001; Score: 0.00
DE  Interaction: Q15149; IntAct: EBI-11914286; Score: 0.00
DE  Interaction: Q2M2I8; IntAct: EBI-11915197; Score: 0.00
DE  Interaction: Q3V6T2; IntAct: EBI-11929271; Score: 0.00
DE  Interaction: E5LBS6; IntAct: EBI-14062727; Score: 0.35
DE  Interaction: Q9NUU7; IntAct: EBI-21587900; Score: 0.35
DE  Interaction: Q9Y2V7; IntAct: EBI-21639337; Score: 0.35
DE  Interaction: Q9BVG3; IntAct: EBI-21639337; Score: 0.35
DE  Interaction: Q9H1M0; IntAct: EBI-21639337; Score: 0.35
DE  Interaction: Q9UN86; IntAct: EBI-21866171; Score: 0.35
DE  Interaction: Q9Y2H1; IntAct: EBI-20624096; Score: 0.42
DE  Interaction: P30556; IntAct: EBI-20802739; Score: 0.37
DE  Interaction: Q9UPY3; IntAct: EBI-20621391; Score: 0.35
DE  Interaction: Q5S007; IntAct: EBI-21360986; Score: 0.35
DE  Interaction: A0A0H3LN59; IntAct: EBI-25401114; Score: 0.35
DE  Interaction: Q13283; IntAct: EBI-25478856; Score: 0.35
DE  Interaction: Q09161; IntAct: EBI-26397353; Score: 0.35
DE  Interaction: Q96LU5; IntAct: EBI-27050332; Score: 0.35
DE  Interaction: Q96T52; IntAct: EBI-27050444; Score: 0.35
DE  Interaction: Q9UQM7; IntAct: EBI-28947140; Score: 0.35
DE  Interaction: P63010; IntAct: EBI-30817604; Score: 0.44
DE  Interaction: Q9Y490; IntAct: EBI-30823972; Score: 0.44
DE  Interaction: P41212; IntAct: EBI-29015445; Score: 0.27
GO  GO:0005829;
GO  GO:0005635;
GO  GO:0005643;
GO  GO:0005654;
GO  GO:0017056;
GO  GO:0000278;
GO  GO:0006406;
GO  GO:0006913;
GO  GO:0006606;
GO  GO:0000055;
GO  GO:0000056;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MAAAEGPVGDGELWQTWLPNHVVFLRLREGLKNQSPTEAEKPASSSLPSSPPPQLLTRNVVFGLGGELFLWDGEDSSFLV
SQ  VRLRGPSGGGEEPALSQYQRLLCINPPLFEIYQVLLSPTQHHVALIGIKGLMVLELPKRWGKNSEFEGGKSTVNCSTTPV
SQ  AERFFTSSTSLTLKHAAWYPSEILDPHVVLLTSDNVIRIYSLREPQTPTNVIILSEAEEESLVLNKGRAYTASLGETAVA
SQ  FDFGPLAAVPKTLFGQNGKDEVVAYPLYILYENGETFLTYISLLHSPGNIGKLLGPLPMHPAAEDNYGYDACAVLCLPCV
SQ  PNILVIATESGMLYHCVVLEGEEEDDHTSEKSWDSRIDLIPSLYVFECVELELALKLASGEDDPFDSDFSCPVKLHRDPK
SQ  CPSRYHCTHEAGVHSVGLTWIHKLHKFLGSDEEDKDSLQELSTEQKCFVEHILCTKPLPCRQPAPIRGFWIVPDILGPTM
SQ  ICITSTYECLIWPLLSTVHPASPPLLCTREDVEVAESPLRVLAETPDSFEKHIRSILQRSVANPAFLKASEKDIAPPPEE
SQ  CLQLLSRATQVFREQYILKQDLAKEEIQRRVKLLCDQKKKQLEDLSYCREERKSLREMAERLADKYEEAKEKQEDIMNRM
SQ  KKLLHSFHSELPVLSDSERDMKKELQLIPDQLRHLGNAIKQVTMKKDYQQQKMEKVLSLPKPTIILSAYQRKCIQSILKE
SQ  EGEHIREMVKQINDIRNHVNF
//