ID  Q8WUM0;
PN  Nuclear pore complex protein Nup133;
GN  NUP133;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0185;
SL  Comments: Nucleus, nuclear pore complex {ECO:0000269|PubMed:11564755, ECO:0000269|PubMed:11684705}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:11564755}. Note=Located on both the cytoplasmic and nuclear sides of the nuclear pore (PubMed:11564755). During mitosis, localizes to the kinetochores (PubMed:11564755). {ECO:0000269|PubMed:11564755, ECO:0000269|PubMed:11684705}.
DR  UNIPROT: Q8WUM0;
DR  UNIPROT: B2RAZ8;
DR  UNIPROT: Q5T8N0;
DR  UNIPROT: Q9H9W2;
DR  UNIPROT: Q9NV71;
DR  UNIPROT: Q9NVC4;
DR  PDB: 1XKS;
DR  PDB: 3CQC;
DR  PDB: 3CQG;
DR  PDB: 3I4R;
DR  PDB: 5A9Q;
DR  PDB: 7PEQ;
DR  Pfam: PF03177;
DR  OMIM: 607613;
DR  OMIM: 618177;
DR  OMIM: 618349;
DR  DisGeNET: 55746;
DE  Function: Involved in poly(A)+ RNA transport. Involved in nephrogenesis (PubMed:30179222). {ECO:0000269|PubMed:11684705, ECO:0000269|PubMed:30179222}.
DE  Disease: Nephrotic syndrome 18 (NPHS18) [MIM:618177]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS18 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life. {ECO:0000269|PubMed:30179222}. Note=The disease is caused by variants affecting the gene represented in this entry. Galloway-Mowat syndrome 8 (GAMOS8) [MIM:618349]: A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS8 inheritance is autosomal recessive. {ECO:0000269|PubMed:30427554}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: A0A142I5B9; IntAct: EBI-20625330; Score: 0.35
DE  Interaction: P02545; IntAct: EBI-16795756; Score: 0.27
DE  Interaction: P11802; IntAct: EBI-11132267; Score: 0.35
DE  Interaction: P35729; IntAct: EBI-11890181; Score: 0.40
DE  Interaction: P46673; IntAct: EBI-11890201; Score: 0.51
DE  Interaction: P49454; IntAct: EBI-7328986; Score: 0.48
DE  Interaction: P49790; IntAct: EBI-7329388; Score: 0.53
DE  Interaction: P52891; IntAct: EBI-11890201; Score: 0.40
DE  Interaction: P52948; IntAct: EBI-295755; Score: 0.35
DE  Interaction: P53011; IntAct: EBI-11890201; Score: 0.40
DE  Interaction: P55735; IntAct: EBI-21716983; Score: 0.35
DE  Interaction: P57740; IntAct: EBI-295708; Score: 0.90
DE  Interaction: P78406; IntAct: EBI-11889630; Score: 0.37
DE  Interaction: Q12769; IntAct: EBI-295755; Score: 0.35
DE  Interaction: Q14974; IntAct: EBI-11115566; Score: 0.35
DE  Interaction: Q6PFD9; IntAct: EBI-2563676; Score: 0.56
DE  Interaction: Q7Z3B4; IntAct: EBI-11889088; Score: 0.37
DE  Interaction: Q80U93; IntAct: EBI-11014856; Score: 0.35
DE  Interaction: Q8BH74; IntAct: EBI-2563157; Score: 0.56
DE  Interaction: Q8NFH3; IntAct: EBI-21865034; Score: 0.53
DE  Interaction: Q8NFH4; IntAct: EBI-25482031; Score: 0.35
DE  Interaction: P01106; IntAct: EBI-1237540; Score: 0.56
DE  Interaction: Q5EWX9; IntAct: EBI-8070469; Score: 0.35
DE  Interaction: O15273; IntAct: EBI-5665154; Score: 0.00
DE  Interaction: Q9UBU9; IntAct: EBI-6262548; Score: 0.35
DE  Interaction: Q96DB2; IntAct: EBI-6598272; Score: 0.35
DE  Interaction: Q8WYP5; IntAct: EBI-9050503; Score: 0.49
DE  Interaction: Q9BW27; IntAct: EBI-9032422; Score: 0.57
DE  Interaction: Q5S007; IntAct: EBI-9515510; Score: 0.69
DE  Interaction: Q6ZQN5; IntAct: EBI-11318220; Score: 0.35
DE  Interaction: Q12952; IntAct: EBI-11318689; Score: 0.35
DE  Interaction: Q9BZS1; IntAct: EBI-11319193; Score: 0.35
DE  Interaction: Q9C009; IntAct: EBI-11319301; Score: 0.35
DE  Interaction: Q99P88; IntAct: EBI-10997466; Score: 0.35
DE  Interaction: Q9ERU9; IntAct: EBI-10999306; Score: 0.35
DE  Interaction: P63280; IntAct: EBI-11044140; Score: 0.35
DE  Interaction: P08670; IntAct: EBI-11083342; Score: 0.35
DE  Interaction: Q96EE3; IntAct: EBI-11086798; Score: 0.35
DE  Interaction: Q80YV4; IntAct: EBI-11095972; Score: 0.35
DE  Interaction: Q9BPU9; IntAct: EBI-11377507; Score: 0.27
DE  Interaction: Q9NRG9; IntAct: EBI-11888192; Score: 0.37
DE  Interaction: P04049; IntAct: EBI-11904819; Score: 0.00
DE  Interaction: Q68CZ1; IntAct: EBI-11917110; Score: 0.00
DE  Interaction: P06821; IntAct: EBI-12577493; Score: 0.35
DE  Interaction: P0C0U1; IntAct: EBI-12579809; Score: 0.35
DE  Interaction: P03431; IntAct: EBI-12579395; Score: 0.35
DE  Interaction: I6T1Z2; IntAct: EBI-12581451; Score: 0.35
DE  Interaction: C5E526; IntAct: EBI-12584472; Score: 0.35
DE  Interaction: C5E527; IntAct: EBI-12585279; Score: 0.35
DE  Interaction: Q20MH8; IntAct: EBI-12586007; Score: 0.35
DE  Interaction: Q1K9H5; IntAct: EBI-12588098; Score: 0.35
DE  Interaction: B4URF7; IntAct: EBI-12588729; Score: 0.35
DE  Interaction: Q8IVT5; IntAct: EBI-14035664; Score: 0.35
DE  Interaction: Q9UBP0; IntAct: EBI-21757061; Score: 0.35
DE  Interaction: Q6XPS3; IntAct: EBI-21801323; Score: 0.35
DE  Interaction: P27824; IntAct: EBI-16788621; Score: 0.27
DE  Interaction: Q15388; IntAct: EBI-16801791; Score: 0.27
DE  Interaction: P10412; IntAct: EBI-20930728; Score: 0.40
DE  Interaction: A2A935; IntAct: EBI-21022882; Score: 0.35
DE  Interaction: P14404; IntAct: EBI-21026252; Score: 0.35
DE  Interaction: Q15077; IntAct: EBI-21262943; Score: 0.35
DE  Interaction: Q9Y275; IntAct: EBI-21266480; Score: 0.35
DE  Interaction: Q9H1C4; IntAct: EBI-21266770; Score: 0.35
DE  Interaction: P0DOF2; IntAct: EBI-25603126; Score: 0.35
DE  Interaction: P0DTC5; IntAct: EBI-26495256; Score: 0.35
DE  Interaction: Q13936; IntAct: EBI-26508997; Score: 0.37
DE  Interaction: P52298; IntAct: EBI-26399642; Score: 0.35
DE  Interaction: Q8NI60; IntAct: EBI-28943519; Score: 0.35
DE  Interaction: Q9Y6S9; IntAct: EBI-28948011; Score: 0.35
DE  Interaction: Q92630; IntAct: EBI-28952196; Score: 0.27
DE  Interaction: Q8NCK7; IntAct: EBI-27103180; Score: 0.35
DE  Interaction: Q8WUK0; IntAct: EBI-27114632; Score: 0.35
DE  Interaction: Q13283; IntAct: EBI-28955349; Score: 0.35
GO  GO:0005829;
GO  GO:0000776;
GO  GO:0016020;
GO  GO:0005635;
GO  GO:0031965;
GO  GO:0005643;
GO  GO:0031080;
GO  GO:0017056;
GO  GO:0006406;
GO  GO:0072006;
GO  GO:0021915;
GO  GO:0022008;
GO  GO:0006999;
GO  GO:0006913;
GO  GO:0048339;
GO  GO:0016973;
GO  GO:0006606;
GO  GO:0061053;
GO  GO:0000972;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MFPAAPSPRTPGTGSRRGPLAGLGPGSTPRTASRKGLPLGSAVSSPVLFSPVGRRSSLSSRGTPTRMFPHHSITESVNYD
SQ  VKTFGSSLPVKVMEALTLAEVDDQLTINIDEGGWACLVCKEKLIIWKIALSPITKLSVCKELQLPPSDFHWSADLVALSY
SQ  SSPSGEAHSTQAVAVMVATREGSIRYWPSLAGEDTYTEAFVDSGGDKTYSFLTAVQGGSFILSSSGSQLIRLIPESSGKI
SQ  HQHILPQGQGMLSGIGRKVSSLFGILSPSSDLTLSSVLWDRERSSFYSLTSSNISKWELDDSSEKHAYSWDINRALKENI
SQ  TDAIWGSESNYEAIKEGVNIRYLDLKQNCDGLVILAAAWHSADNPCLIYYSLITIEDNGCQMSDAVTVEVTQYNPPFQSE
SQ  DLILCQLTVPNFSNQTAYLYNESAVYVCSTGTGKFSLPQEKIVFNAQGDSVLGAGACGGVPIIFSRNSGLVSITSRENVS
SQ  ILAEDLEGSLASSVAGPNSESMIFETTTKNETIAQEDKIKLLKAAFLQYCRKDLGHAQMVVDELFSSHSDLDSDSELDRA
SQ  VTQISVDLMDDYPASDPRWAESVPEEAPGFSNTSLIILHQLEDKMKAHSFLMDFIHQVGLFGRLGSFPVRGTPMATRLLL
SQ  CEHAEKLSAAIVLKNHHSRLSDLVNTAILIALNKREYEIPSNLTPADVFFREVSQVDTICECLLEHEEQVLRDAPMDSIE
SQ  WAEVVINVNNILKDMLQAASHYRQNRNSLYRREESLEKEPEYVPWTATSGPGGIRTVIIRQHEIVLKVAYPQADSNLRNI
SQ  VTEQLVALIDCFLDGYVSQLKSVDKSSNRERYDNLEMEYLQKRSDLLSPLLSLGQYLWAASLAEKYCDFDILVQMCEQTD
SQ  NQSRLQRYMTQFADQNFSDFLFRWYLEKGKRGKLLSQPISQHGQLANFLQAHEHLSWLHEINSQELEKAHATLLGLANME
SQ  TRYFAKKKTLLGLSKLAALASDFSEDMLQEKIEEMAEQERFLLHQETLPEQLLAEKQLNLSAMPVLTAPQLIGLYICEEN
SQ  RRANEYDFKKALDLLEYIDEEEDININDLKLEILCKALQRDNWSSSDGKDDPIEVSKDSIFVKILQKLLKDGIQLSEYLP
SQ  EVKDLLQADQLGSLKSNPYFEFVLKANYEYYVQGQI
//