ID  Q9BW27;
PN  Nuclear pore complex protein Nup85;
GN  NUP85;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0182;
SL  Nucleus Position: SL-0185;
SL  Comments: Nucleus, nuclear pore complex {ECO:0000269|PubMed:12196509, ECO:0000269|PubMed:12718872}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:12718872, ECO:0000269|PubMed:15146057, ECO:0000269|PubMed:16807356}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:16807356}. Cytoplasm {ECO:0000269|PubMed:15995708}. Nucleus membrane {ECO:0000269|PubMed:12196509}. Note=During mitosis, localizes to the kinetochores and spindle poles (PubMed:12718872, PubMed:16807356). Upon CCl2 stimulation translocates from the cytoplasm to the membrane and colocalizes with CCR2 at the front of migrating cells (PubMed:15995708). {ECO:0000269|PubMed:12718872, ECO:0000269|PubMed:15995708, ECO:0000269|PubMed:16807356}.
DR  UNIPROT: Q9BW27;
DR  UNIPROT: B4DMQ3;
DR  UNIPROT: B4DPW1;
DR  UNIPROT: Q8NDI4;
DR  UNIPROT: Q9H9U1;
DR  PDB: 5A9Q;
DR  PDB: 7PEQ;
DR  Pfam: PF07575;
DR  OMIM: 170285;
DR  OMIM: 618176;
DR  DisGeNET: 79902;
DE  Function: Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance (PubMed:12718872). As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP96/Nup98 and NUP153 to the nucleus (PubMed:12718872). The Nup107-160 complex seems to be required for spindle assembly during mitosis (PubMed:16807356). NUP85 is required for membrane clustering of CCL2-activated CCR2 (PubMed:15995708). Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3- kinase-Rac-lammellipodium protrusion cascade (PubMed:15995708). Involved in nephrogenesis (PubMed:30179222). {ECO:0000269|PubMed:12718872, ECO:0000269|PubMed:15995708, ECO:0000269|PubMed:16807356, ECO:0000269|PubMed:30179222}.
DE  Disease: Nephrotic syndrome 17 (NPHS17) [MIM:618176]: 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. NPHS17 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.
DE  Reference Proteome: Yes;
DE  Interaction: A0A142I5B9; IntAct: EBI-20625330; Score: 0.35
DE  Interaction: P02545; IntAct: EBI-16795756; Score: 0.27
DE  Interaction: P49790; IntAct: EBI-11076796; Score: 0.35
DE  Interaction: P52948; IntAct: EBI-9032422; Score: 0.40
DE  Interaction: P55735; IntAct: EBI-9032422; Score: 0.56
DE  Interaction: P57740; IntAct: EBI-9032422; Score: 0.56
DE  Interaction: P63279; IntAct: EBI-11105225; Score: 0.35
DE  Interaction: Q12769; IntAct: EBI-9032422; Score: 0.59
DE  Interaction: Q14974; IntAct: EBI-11115566; Score: 0.35
DE  Interaction: Q6PFD9; IntAct: EBI-2563676; Score: 0.56
DE  Interaction: Q80U93; IntAct: EBI-11014856; Score: 0.35
DE  Interaction: Q8BH74; IntAct: EBI-2563157; Score: 0.56
DE  Interaction: Q8NFH3; IntAct: EBI-9032422; Score: 0.76
DE  Interaction: Q8NFH4; IntAct: EBI-9032422; Score: 0.56
DE  Interaction: Q8WUM0; IntAct: EBI-9032422; Score: 0.57
DE  Interaction: Q8WYP5; IntAct: EBI-9050503; Score: 0.57
DE  Interaction: Q96EE3; IntAct: EBI-9032422; Score: 0.70
DE  Interaction: P26641; IntAct: EBI-732758; Score: 0.00
DE  Interaction: Q9P275; IntAct: EBI-2512446; Score: 0.40
DE  Interaction: Q70CQ1; IntAct: EBI-2512828; Score: 0.40
DE  Interaction: Q96DB2; IntAct: EBI-6598272; Score: 0.35
DE  Interaction: P41597; IntAct: EBI-9822344; Score: 0.56
DE  Interaction: Q9C009; IntAct: EBI-11319301; 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: Q9BPU9; IntAct: EBI-11377507; Score: 0.27
DE  Interaction: Q7L5D6; IntAct: EBI-24515714; Score: 0.56
DE  Interaction: P32970; IntAct: EBI-21512742; Score: 0.35
DE  Interaction: Q8N490; IntAct: EBI-21596986; Score: 0.35
DE  Interaction: A8K8V0; IntAct: EBI-21612043; Score: 0.35
DE  Interaction: Q8NBZ7; IntAct: EBI-21638319; Score: 0.35
DE  Interaction: Q6EMK4; IntAct: EBI-21651359; Score: 0.35
DE  Interaction: Q6UWR7; IntAct: EBI-21723303; Score: 0.35
DE  Interaction: Q9UBP0; IntAct: EBI-21757061; Score: 0.35
DE  Interaction: Q5T5S1; IntAct: EBI-21816407; Score: 0.35
DE  Interaction: Q14684; IntAct: EBI-16686997; Score: 0.35
DE  Interaction: P46013; IntAct: EBI-20562326; Score: 0.35
DE  Interaction: Q15628; IntAct: EBI-20737473; Score: 0.35
DE  Interaction: P14404; IntAct: EBI-21028244; Score: 0.35
DE  Interaction: Q9Y275; IntAct: EBI-21266480; Score: 0.35
DE  Interaction: P0DOF2; IntAct: EBI-25603126; Score: 0.35
DE  Interaction: P0DTC5; IntAct: EBI-26495256; Score: 0.35
DE  Interaction: Q92630; IntAct: EBI-28952196; Score: 0.27
GO  GO:0005829;
GO  GO:0000776;
GO  GO:0016020;
GO  GO:0005635;
GO  GO:0031965;
GO  GO:0005643;
GO  GO:0031080;
GO  GO:0005654;
GO  GO:0005819;
GO  GO:0017056;
GO  GO:0030032;
GO  GO:0048246;
GO  GO:0006406;
GO  GO:0072006;
GO  GO:0006913;
GO  GO:0045893;
GO  GO:0006606;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MEELDGEPTVTLIPGVNSKKNQMYFDWGPGEMLVCETSFNKKEKSEMVPSCPFIYIIRKDVDVYSQILRKLFNESHGIFL
SQ  GLQRIDEELTGKSRKSQLVRVSKNYRSVIRACMEEMHQVAIAAKDPANGRQFSSQVSILSAMELIWNLCEILFIEVAPAG
SQ  PLLLHLLDWVRLHVCEVDSLSADVLGSENPSKHDSFWNLVTILVLQGRLDEARQMLSKEADASPASAGICRIMGDLMRTM
SQ  PILSPGNTQTLTELELKWQHWHEECERYLQDSTFATSPHLESLLKIMLGDEAALLEQKELLSNWYHFLVTRLLYSNPTVK
SQ  PIDLHYYAQSSLDLFLGGESSPEPLDNILLAAFEFDIHQVIKECSIALSNWWFVAHLTDLLDHCKLLQSHNLYFGSNMRE
SQ  FLLLEYASGLFAHPSLWQLGVDYFDYCPELGRVSLELHIERIPLNTEQKALKVLRICEQRQMTEQVRSICKILAMKAVRN
SQ  NRLGSALSWSIRAKDAAFATLVSDRFLRDYCERGCFSDLDLIDNLGPAMMLSDRLTFLGKYREFHRMYGEKRFADAASLL
SQ  LSLMTSRIAPRSFWMTLLTDALPLLEQKQVIFSAEQTYELMRCLEDLTSRRPVHGESDTEQLQDDDIETTKVEMLRLSLA
SQ  RNLARAIIREGSLEGS
//