Q8WUM0 Nuclear NUP133 9606 None SL-0178 SL-0185 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}. UNIPROT Q8WUM0 UNIPROT B2RAZ8 UNIPROT Q5T8N0 UNIPROT Q9H9W2 UNIPROT Q9NV71 UNIPROT Q9NVC4 PDB 1XKS PDB 3CQC PDB 3CQG PDB 3I4R PDB 5A9Q PDB 7PEQ Pfam PF03177 OMIM 607613 OMIM 618177 OMIM 618349 DisGeNET 55746 Involved in poly(A)+ RNA transport. Involved in nephrogenesis (PubMed:30179222). {ECO:0000269|PubMed:11684705, ECO:0000269|PubMed:30179222}. 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. A0A142I5B9 EBI-20625330 0.35 P02545 EBI-16795756 0.27 P11802 EBI-11132267 0.35 P35729 EBI-11890181 0.40 P46673 EBI-11890201 0.51 P49454 EBI-7328986 0.48 P49790 EBI-7329388 0.53 P52891 EBI-11890201 0.40 P52948 EBI-295755 0.35 P53011 EBI-11890201 0.40 P55735 EBI-21716983 0.35 P57740 EBI-295708 0.90 P78406 EBI-11889630 0.37 Q12769 EBI-295755 0.35 Q14974 EBI-11115566 0.35 Q6PFD9 EBI-2563676 0.56 Q7Z3B4 EBI-11889088 0.37 Q80U93 EBI-11014856 0.35 Q8BH74 EBI-2563157 0.56 Q8NFH3 EBI-21865034 0.53 Q8NFH4 EBI-25482031 0.35 P01106 EBI-1237540 0.56 Q5EWX9 EBI-8070469 0.35 O15273 EBI-5665154 0.00 Q9UBU9 EBI-6262548 0.35 Q96DB2 EBI-6598272 0.35 Q8WYP5 EBI-9050503 0.49 Q9BW27 EBI-9032422 0.57 Q5S007 EBI-9515510 0.69 Q6ZQN5 EBI-11318220 0.35 Q12952 EBI-11318689 0.35 Q9BZS1 EBI-11319193 0.35 Q9C009 EBI-11319301 0.35 Q99P88 EBI-10997466 0.35 Q9ERU9 EBI-10999306 0.35 P63280 EBI-11044140 0.35 P08670 EBI-11083342 0.35 Q96EE3 EBI-11086798 0.35 Q80YV4 EBI-11095972 0.35 Q9BPU9 EBI-11377507 0.27 Q9NRG9 EBI-11888192 0.37 P04049 EBI-11904819 0.00 Q68CZ1 EBI-11917110 0.00 P06821 EBI-12577493 0.35 P0C0U1 EBI-12579809 0.35 P03431 EBI-12579395 0.35 I6T1Z2 EBI-12581451 0.35 C5E526 EBI-12584472 0.35 C5E527 EBI-12585279 0.35 Q20MH8 EBI-12586007 0.35 Q1K9H5 EBI-12588098 0.35 B4URF7 EBI-12588729 0.35 Q8IVT5 EBI-14035664 0.35 Q9UBP0 EBI-21757061 0.35 Q6XPS3 EBI-21801323 0.35 P27824 EBI-16788621 0.27 Q15388 EBI-16801791 0.27 P10412 EBI-20930728 0.40 A2A935 EBI-21022882 0.35 P14404 EBI-21026252 0.35 Q15077 EBI-21262943 0.35 Q9Y275 EBI-21266480 0.35 Q9H1C4 EBI-21266770 0.35 P0DOF2 EBI-25603126 0.35 P0DTC5 EBI-26495256 0.35 Q13936 EBI-26508997 0.37 P52298 EBI-26399642 0.35 Q8NI60 EBI-28943519 0.35 Q9Y6S9 EBI-28948011 0.35 Q92630 EBI-28952196 0.27 Q8NCK7 EBI-27103180 0.35 Q8WUK0 EBI-27114632 0.35 Q13283 EBI-28955349 0.35 GO:0005829 GO:0000776 GO:0016020 GO:0005635 GO:0031965 GO:0005643 GO:0031080 GO:0017056 GO:0006406 GO:0072006 GO:0021915 GO:0022008 GO:0006999 GO:0006913 GO:0048339 GO:0016973 GO:0006606 GO:0061053 GO:0000972 Unknown UniProt Sequence Analysis MFPAAPSPRTPGTGSRRGPLAGLGPGSTPRTASRKGLPLGSAVSSPVLFSPVGRRSSLSSRGTPTRMFPHHSITESVNYDVKTFGSSLPVKVMEALTLAEVDDQLTINIDEGGWACLVCKEKLIIWKIALSPITKLSVCKELQLPPSDFHWSADLVALSYSSPSGEAHSTQAVAVMVATREGSIRYWPSLAGEDTYTEAFVDSGGDKTYSFLTAVQGGSFILSSSGSQLIRLIPESSGKIHQHILPQGQGMLSGIGRKVSSLFGILSPSSDLTLSSVLWDRERSSFYSLTSSNISKWELDDSSEKHAYSWDINRALKENITDAIWGSESNYEAIKEGVNIRYLDLKQNCDGLVILAAAWHSADNPCLIYYSLITIEDNGCQMSDAVTVEVTQYNPPFQSEDLILCQLTVPNFSNQTAYLYNESAVYVCSTGTGKFSLPQEKIVFNAQGDSVLGAGACGGVPIIFSRNSGLVSITSRENVSILAEDLEGSLASSVAGPNSESMIFETTTKNETIAQEDKIKLLKAAFLQYCRKDLGHAQMVVDELFSSHSDLDSDSELDRAVTQISVDLMDDYPASDPRWAESVPEEAPGFSNTSLIILHQLEDKMKAHSFLMDFIHQVGLFGRLGSFPVRGTPMATRLLLCEHAEKLSAAIVLKNHHSRLSDLVNTAILIALNKREYEIPSNLTPADVFFREVSQVDTICECLLEHEEQVLRDAPMDSIEWAEVVINVNNILKDMLQAASHYRQNRNSLYRREESLEKEPEYVPWTATSGPGGIRTVIIRQHEIVLKVAYPQADSNLRNIVTEQLVALIDCFLDGYVSQLKSVDKSSNRERYDNLEMEYLQKRSDLLSPLLSLGQYLWAASLAEKYCDFDILVQMCEQTDNQSRLQRYMTQFADQNFSDFLFRWYLEKGKRGKLLSQPISQHGQLANFLQAHEHLSWLHEINSQELEKAHATLLGLANMETRYFAKKKTLLGLSKLAALASDFSEDMLQEKIEEMAEQERFLLHQETLPEQLLAEKQLNLSAMPVLTAPQLIGLYICEENRRANEYDFKKALDLLEYIDEEEDININDLKLEILCKALQRDNWSSSDGKDDPIEVSKDSIFVKILQKLLKDGIQLSEYLPEVKDLLQADQLGSLKSNPYFEFVLKANYEYYVQGQI 1156