ID  Q8NFH4;
PN  Nucleoporin Nup37;
GN  NUP37;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0185;
SL  Comments: Chromosome, centromere, kinetochore. Nucleus, nuclear pore complex.
DR  UNIPROT: Q8NFH4;
DR  UNIPROT: Q9H644;
DR  PDB: 5A9Q;
DR  PDB: 7PEQ;
DR  Pfam: PF00400;
DR  PROSITE: PS00678;
DR  PROSITE: PS50082;
DR  PROSITE: PS50294;
DR  OMIM: 609264;
DR  OMIM: 618179;
DR  DisGeNET: 79023;
DE  Function: Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. {ECO:0000269|PubMed:17363900, ECO:0000269|PubMed:30179222}.
DE  Disease: Microcephaly 24, primary, autosomal recessive (MCPH24) [MIM:618179]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH24 patients additionally manifest mildly impaired intellectual development, cerebellar vermis hypoplasia, and fifth finger clinodactyly. {ECO:0000269|PubMed:30179222}. Note=The disease may be caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: P02545; IntAct: EBI-16795756; Score: 0.27
DE  Interaction: P12270; IntAct: EBI-11888966; Score: 0.37
DE  Interaction: P49790; IntAct: EBI-11076796; Score: 0.35
DE  Interaction: P52948; IntAct: EBI-25482031; Score: 0.35
DE  Interaction: P55735; IntAct: EBI-11888954; Score: 0.66
DE  Interaction: P57740; IntAct: EBI-11160436; Score: 0.53
DE  Interaction: Q12769; IntAct: EBI-25482031; Score: 0.35
DE  Interaction: Q14974; IntAct: EBI-11115566; Score: 0.35
DE  Interaction: Q60952; IntAct: EBI-11075169; Score: 0.35
DE  Interaction: Q6PFD9; IntAct: EBI-2563676; Score: 0.56
DE  Interaction: Q8BH74; IntAct: EBI-2563157; Score: 0.56
DE  Interaction: Q8NFH3; IntAct: EBI-21865034; Score: 0.53
DE  Interaction: Q13573; IntAct: EBI-7950968; Score: 0.35
DE  Interaction: Q8WYP5; IntAct: EBI-9050503; Score: 0.62
DE  Interaction: Q9BW27; IntAct: EBI-9032422; Score: 0.56
DE  Interaction: Q9ERU9; IntAct: EBI-10999306; Score: 0.35
DE  Interaction: Q8R023; IntAct: EBI-11034239; Score: 0.35
DE  Interaction: P63280; IntAct: EBI-11044140; Score: 0.35
DE  Interaction: O88952; IntAct: EBI-11079007; Score: 0.35
DE  Interaction: Q96EE3; IntAct: EBI-11086798; Score: 0.35
DE  Interaction: P27824; IntAct: EBI-16788621; Score: 0.27
DE  Interaction: Q8WXG6; IntAct: EBI-20934860; Score: 0.40
DE  Interaction: P03372; IntAct: EBI-21301141; Score: 0.35
DE  Interaction: Q13242; IntAct: EBI-25482031; Score: 0.35
DE  Interaction: O75494; IntAct: EBI-25482031; Score: 0.35
DE  Interaction: Q86U42; IntAct: EBI-25482031; Score: 0.35
DE  Interaction: P62987; IntAct: EBI-25482031; Score: 0.35
DE  Interaction: Q8ND56; IntAct: EBI-25482031; Score: 0.35
DE  Interaction: Q8WUM0; IntAct: EBI-25482031; Score: 0.35
DE  Interaction: P55212; IntAct: EBI-25835597; Score: 0.56
DE  Interaction: P13473; IntAct: EBI-25873962; Score: 0.56
DE  Interaction: O43464; IntAct: EBI-27050249; Score: 0.35
DE  Interaction: Q96LU5; IntAct: EBI-27050332; Score: 0.35
DE  Interaction: Q96T52; IntAct: EBI-27050444; Score: 0.35
DE  Interaction: Q9UM73; IntAct: EBI-32719830; Score: 0.27
DE  Interaction: P35916; IntAct: EBI-32722728; Score: 0.27
GO  GO:0005829;
GO  GO:0000776;
GO  GO:0005635;
GO  GO:0005643;
GO  GO:0031080;
GO  GO:0005654;
GO  GO:0005634;
GO  GO:0007049;
GO  GO:0051301;
GO  GO:0007059;
GO  GO:0051028;
GO  GO:0006913;
GO  GO:0015031;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MKQDASRNAAYTVDCEDYVHVVEFNPFENGDSGNLIAYGGNNYVVIGTCTFQEEEADVEGIQYKTLRTFHHGVRVDGIAW
SQ  SPETRLDSLPPVIKFCTSAADMKIRLFTSDLQDKNEYKVLEGHTDFINGLVFDPKEGQEIASVSDDHTCRIWNLEGVQTA
SQ  HFVLHSPGMSVCWHPEETFKLMVAEKNGTIRFYDLLAQQAILSLESEQVPLMSAHWCLKNTFKVGAVAGNDWLIWDITRS
SQ  SYPQNKRPVHMDRACLFRWSTISENLFATTGYPGKMASQFQIHHLGHPQPILMGSVAVGSGLSWHRTLPLCVIGGDHKLL
SQ  FWVTEV
//