ID  P57740;
PN  Nuclear pore complex protein Nup107;
GN  NUP107;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0182;
SL  Nucleus Position: SL-0185;
SL  Comments: Nucleus membrane {ECO:0000269|PubMed:11564755, ECO:0000269|PubMed:12802065, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:26411495}. Nucleus, nuclear pore complex {ECO:0000269|PubMed:11564755, ECO:0000269|PubMed:12802065, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:26411495}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:11564755}. Note=Located on both the cytoplasmic and nuclear sides of the NPC core structure (PubMed:11564755). During mitosis, localizes to the kinetochores (PubMed:11564755). Dissociates from the dissasembled NPC structure late during prophase of mitosis (PubMed:11564755). {ECO:0000269|PubMed:11564755}.
DR  UNIPROT: P57740;
DR  UNIPROT: B4DZ67;
DR  UNIPROT: Q6PJE1;
DR  PDB: 3CQC;
DR  PDB: 3CQG;
DR  PDB: 3I4R;
DR  PDB: 5A9Q;
DR  PDB: 7PEQ;
DR  Pfam: PF04121;
DR  OMIM: 607617;
DR  OMIM: 616730;
DR  OMIM: 618078;
DR  OMIM: 618348;
DR  DisGeNET: 57122;
DE  Function: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:15229283, PubMed:12552102). May anchor NUP62 to the NPC (PubMed:15229283). Involved in nephrogenesis (PubMed:30179222). {ECO:0000269|PubMed:12552102, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:30179222}.
DE  Disease: Nephrotic syndrome 11 (NPHS11) [MIM:616730]: 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 and progress to end-stage renal failure. NPHS11 is an autosomal recessive, steroid-resistant and progressive form with onset in the first decade of life. {ECO:0000269|PubMed:26411495, ECO:0000269|PubMed:30179222}. Note=The disease is caused by variants affecting the gene represented in this entry. Ovarian dysgenesis 6 (ODG6) [MIM:618078]: A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG6 is an autosomal recessive condition. {ECO:0000269|PubMed:26485283}. Note=The disease may be caused by variants affecting the gene represented in this entry. Galloway-Mowat syndrome 7 (GAMOS7) [MIM:618348]: 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. GAMOS7 inheritance is autosomal recessive. {ECO:0000269|PubMed:28117080, ECO:0000269|PubMed:28280135, 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: A8CG34; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: O15504; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: P02545; IntAct: EBI-16795756; Score: 0.27
DE  Interaction: P04406; IntAct: EBI-20910640; Score: 0.40
DE  Interaction: P0DTD1; IntAct: EBI-27030072; Score: 0.35
DE  Interaction: P12270; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: P35658; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: P37198; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: P46060; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: P49454; IntAct: EBI-7329356; Score: 0.35
DE  Interaction: P49790; IntAct: EBI-11076796; Score: 0.35
DE  Interaction: P49792; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: P52948; IntAct: EBI-295747; Score: 0.35
DE  Interaction: P55735; IntAct: EBI-11160436; Score: 0.53
DE  Interaction: Q8WUM0; IntAct: EBI-295708; Score: 0.90
DE  Interaction: Q12769; IntAct: EBI-295747; Score: 0.53
DE  Interaction: Q8BH74; IntAct: EBI-2563157; Score: 0.40
DE  Interaction: Q6PFD9; IntAct: EBI-2563676; Score: 0.56
DE  Interaction: Q99459; IntAct: EBI-7954144; Score: 0.35
DE  Interaction: Q13618; IntAct: EBI-21329068; Score: 0.35
DE  Interaction: Q8WYP5; IntAct: EBI-9050503; Score: 0.49
DE  Interaction: Q9BW27; IntAct: EBI-9032422; Score: 0.56
DE  Interaction: Q5S007; IntAct: EBI-9515510; Score: 0.53
DE  Interaction: P55318; IntAct: EBI-11317309; Score: 0.35
DE  Interaction: Q6ZQN5; IntAct: EBI-11318220; Score: 0.35
DE  Interaction: Q01167; IntAct: EBI-11318541; Score: 0.35
DE  Interaction: Q9BZS1; IntAct: EBI-11319193; Score: 0.35
DE  Interaction: Q9C009; IntAct: EBI-11319301; Score: 0.35
DE  Interaction: Q9ULZ3; IntAct: EBI-10687267; Score: 0.35
DE  Interaction: Q99P88; IntAct: EBI-10997466; Score: 0.35
DE  Interaction: Q9ERU9; IntAct: EBI-10999306; Score: 0.35
DE  Interaction: E9PUA5; IntAct: EBI-10999661; Score: 0.35
DE  Interaction: Q80U93; IntAct: EBI-11014856; Score: 0.35
DE  Interaction: Q8VE37; IntAct: EBI-11043815; Score: 0.35
DE  Interaction: P63280; IntAct: EBI-11044140; Score: 0.35
DE  Interaction: Q9BVL2; IntAct: EBI-11077390; Score: 0.35
DE  Interaction: Q96EE3; IntAct: EBI-11086798; Score: 0.35
DE  Interaction: P63279; IntAct: EBI-11105225; Score: 0.35
DE  Interaction: Q14974; IntAct: EBI-11115566; Score: 0.35
DE  Interaction: P01116; IntAct: EBI-11133657; Score: 0.35
DE  Interaction: Q96PC2; IntAct: EBI-11138004; Score: 0.35
DE  Interaction: P18754; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: O14715; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: O95373; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q9NRG9; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: O75083; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q8TEM1; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q8NFH5; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q9UKX7; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: P63165; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: P53396; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q14571; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: E9PF10; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q92621; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q99567; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q9UBU9; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q6NUQ4; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: O00629; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: P61619; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q8NFH4; IntAct: EBI-11160436; Score: 0.53
DE  Interaction: Q5SRE5; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: P78406; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q5JRG1; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q96SK2; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q9NXE4; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q8N1F7; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q9UKK6; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q6P087; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: P62826; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q53GS7; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q9HC62; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q8NFH3; IntAct: EBI-11160436; Score: 0.64
DE  Interaction: Q9BTX1; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q7Z3B4; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q9BPU9; IntAct: EBI-11377507; Score: 0.27
DE  Interaction: P04049; IntAct: EBI-11904756; Score: 0.00
DE  Interaction: P03431; IntAct: EBI-12579142; Score: 0.35
DE  Interaction: P0C0U1; IntAct: EBI-12579831; Score: 0.35
DE  Interaction: I6T1Z2; IntAct: EBI-12581451; Score: 0.35
DE  Interaction: C5E519; IntAct: EBI-12583021; Score: 0.35
DE  Interaction: C5E526; IntAct: EBI-12584472; Score: 0.35
DE  Interaction: C5E527; IntAct: EBI-12585653; Score: 0.35
DE  Interaction: Q20MH8; IntAct: EBI-12586007; Score: 0.35
DE  Interaction: B4URF7; IntAct: EBI-12588729; Score: 0.35
DE  Interaction: Q1K9H5; IntAct: EBI-12587743; Score: 0.35
DE  Interaction: P32970; IntAct: EBI-21512742; Score: 0.35
DE  Interaction: Q8N7X8; IntAct: EBI-21585341; Score: 0.35
DE  Interaction: Q8NBZ7; IntAct: EBI-21638319; Score: 0.35
DE  Interaction: Q9UBP0; IntAct: EBI-21757061; Score: 0.35
DE  Interaction: P27824; IntAct: EBI-16788621; Score: 0.27
DE  Interaction: P15311; IntAct: EBI-16791848; Score: 0.27
DE  Interaction: O14880; IntAct: EBI-16796348; Score: 0.27
DE  Interaction: Q9HBL7; IntAct: EBI-16797780; Score: 0.27
DE  Interaction: Q15388; IntAct: EBI-16801791; Score: 0.27
DE  Interaction: P08559; IntAct: EBI-20306509; Score: 0.35
DE  Interaction: A2A935; IntAct: EBI-21022882; Score: 0.35
DE  Interaction: P14404; IntAct: EBI-21026252; Score: 0.35
DE  Interaction: P0DOF2; IntAct: EBI-25603126; Score: 0.35
DE  Interaction: Q13627; IntAct: EBI-26367331; Score: 0.35
DE  Interaction: Q92630; IntAct: EBI-28952196; Score: 0.27
DE  Interaction: Q8NCK7; IntAct: EBI-27103180; Score: 0.35
DE  Interaction: Q9UII6; IntAct: EBI-27115954; Score: 0.27
DE  Interaction: P10071; IntAct: EBI-29000530; Score: 0.35
GO  GO:0005829;
GO  GO:0000776;
GO  GO:0016020;
GO  GO:0005635;
GO  GO:0031965;
GO  GO:0034399;
GO  GO:0005643;
GO  GO:0031080;
GO  GO:0017056;
GO  GO:0008585;
GO  GO:0006406;
GO  GO:0072006;
GO  GO:0051292;
GO  GO:0006913;
GO  GO:0000973;
GO  GO:0006606;
GO  GO:0006355;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MDRSGFGEISSPVIREAEVTRTARKQSAQKRVLLQASQDENFGNTTPRNQVIPRTPSSFRQPFTPTSRSLLRQPDISCIL
SQ  GTGGKSPRLTQSSGFFGNLSMVTNLDDSNWAAAFSSQRSGLFTNTEPHSITEDVTISAVMLREDDPGEAASMSMFSDFLQ
SQ  SFLKHSSSTVFDLVEEYENICGSQVNILSKIVSRATPGLQKFSKTASMLWLLQQEMVTWRLLASLYRDRIQSALEEESVF
SQ  AVTAVNASEKTVVEALFQRDSLVRQSQLVVDWLESIAKDEIGEFSDNIEFYAKSVYWENTLHTLKQRQLTSYVGSVRPLV
SQ  TELDPDAPIRQKMPLDDLDREDEVRLLKYLFTLIRAGMTEEAQRLCKRCGQAWRAATLEGWKLYHDPNVNGGTELEPVEG
SQ  NPYRRIWKISCWRMAEDELFNRYERAIYAALSGNLKQLLPVCDTWEDTVWAYFRVMVDSLVEQEIQTSVATLDETEELPR
SQ  EYLGANWTLEKVFEELQATDKKRVLEENQEHYHIVQKFLILGDIDGLMDEFSKWLSKSRNNLPGHLLRFMTHLILFFRTL
SQ  GLQTKEEVSIEVLKTYIQLLIREKHTNLIAFYTCHLPQDLAVAQYALFLESVTEFEQRHHCLELAKEADLDVATITKTVV
SQ  ENIRKKDNGEFSHHDLAPALDTGTTEEDRLKIDVIDWLVFDPAQRAEALKQGNAIMRKFLASKKHEAAKEVFVKIPQDSI
SQ  AEIYNQCEEQGMESPLPAEDDNAIREHLCIRAYLEAHETFNEWFKHMNSVPQKPALIPQPTFTEKVAHEHKEKKYEMDFG
SQ  IWKGHLDALTADVKEKMYNVLLFVDGGWMVDVREDAKEDHERTHQMVLLRKLCLPMLCFLLHTILHSTGQYQECLQLADM
SQ  VSSERHKLYLVFSKEELRKLLQKLRESSLMLLDQGLDPLGYEIQL
//