ID  Q6X4W1;
PN  NMDA receptor synaptonuclear signaling and neuronal migration factor;
GN  NSMF;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0182;
SL  Comments: Nucleus {ECO:0000269|PubMed:20025934}. Nucleus envelope {ECO:0000250}. Nucleus membrane {ECO:0000250}. Nucleus matrix {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:20025934}. Cytoplasm, cell cortex {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell membrane {ECO:0000269|PubMed:20025934}; Peripheral membrane protein {ECO:0000269|PubMed:20025934}. Cell projection, dendrite {ECO:0000250}. Synapse {ECO:0000250}. Synapse, synaptosome {ECO:0000250}. Postsynaptic density {ECO:0000250}. Membrane {ECO:0000250}. Note=Found on the outside of the luteinizing-hormone-releasing hormone (LHRH) cell membrane and axons projecting from the olfactory pit and epithelium. Associates with transcriptionally active chromatin regions. Detected at the nuclear membranes of CA1 neurons. Cortical cytoskeleton. Localized in proximal apical dendrites. Colocalizes with CABP1 in dendrites and dendritic spines. Myristoylation is a prerequisite for extranuclear localization. Translocates from dendrites to the nucleus during NMDA receptor-dependent long-term potentiation (LTP) induction of synaptic transmission at Schaffer collateral/CA1 synapses of hippocampal primary neurons and in a importin-dependent manner (By similarity). {ECO:0000250}.
DR  UNIPROT: Q6X4W1;
DR  UNIPROT: Q2TB96;
DR  UNIPROT: Q6X4V7;
DR  UNIPROT: Q6X4V8;
DR  UNIPROT: Q6X4V9;
DR  UNIPROT: Q8N2M2;
DR  UNIPROT: Q96SY1;
DR  UNIPROT: Q9NPM4;
DR  UNIPROT: Q9NPP3;
DR  UNIPROT: Q9NPS3;
DR  OMIM: 608137;
DR  OMIM: 614838;
DR  DisGeNET: 26012;
DE  Function: Couples NMDA-sensitive glutamate receptor signaling to the nucleus and triggers long-lasting changes in the cytoarchitecture of dendrites and spine synapse processes. Part of the cAMP response element-binding protein (CREB) shut-off signaling pathway. Stimulates outgrowth of olfactory axons and migration of gonadotropin-releasing hormone (GnRH) and luteinizing-hormone-releasing hormone (LHRH) neuronal cells. {ECO:0000269|PubMed:20025934}.
DE  Disease: Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) [MIM:614838]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269|PubMed:15362570, ECO:0000269|PubMed:21700882, ECO:0000269|PubMed:23643382}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in NSMF as well as in other HH-associated genes including FGFR1 (PubMed:23643382). {ECO:0000269|PubMed:23643382}.
DE  Reference Proteome: Yes;
DE  Interaction: P02545; IntAct: EBI-25874947; Score: 0.56
DE  Interaction: P35240; IntAct: EBI-25878370; Score: 0.56
DE  Interaction: Q5VTD9; IntAct: EBI-953002; Score: 0.00
DE  Interaction: Q9UJV3; IntAct: EBI-24321902; Score: 0.56
DE  Interaction: Q08379; IntAct: EBI-24262865; Score: 0.56
DE  Interaction: Q8ND90; IntAct: EBI-25254367; Score: 0.56
DE  Interaction: O75031; IntAct: EBI-24504154; Score: 0.56
DE  Interaction: Q12933; IntAct: EBI-22730042; Score: 0.56
DE  Interaction: Q9BPX5; IntAct: EBI-22734617; Score: 0.56
DE  Interaction: P29377; IntAct: EBI-22734564; Score: 0.56
DE  Interaction: Q5W5X9; IntAct: EBI-22757664; Score: 0.56
DE  Interaction: O14950; IntAct: EBI-24722799; Score: 0.56
DE  Interaction: Q16825; IntAct: EBI-24373467; Score: 0.56
DE  Interaction: Q86Z20; IntAct: EBI-24390896; Score: 0.56
DE  Interaction: Q15654; IntAct: EBI-24392928; Score: 0.56
DE  Interaction: Q9BS40; IntAct: EBI-24413700; Score: 0.56
DE  Interaction: O95273; IntAct: EBI-24439262; Score: 0.56
DE  Interaction: Q9UBB9; IntAct: EBI-24441101; Score: 0.56
DE  Interaction: A6NEM1; IntAct: EBI-24443988; Score: 0.56
DE  Interaction: Q9BVG8; IntAct: EBI-24451566; Score: 0.56
DE  Interaction: P57075; IntAct: EBI-24573458; Score: 0.56
DE  Interaction: P25791; IntAct: EBI-24576651; Score: 0.56
DE  Interaction: O14512; IntAct: EBI-24601500; Score: 0.56
DE  Interaction: Q96SI1; IntAct: EBI-21881639; Score: 0.35
DE  Interaction: Q5XPI4; IntAct: EBI-21881639; Score: 0.35
DE  Interaction: Q5TEU4; IntAct: EBI-21881639; Score: 0.35
DE  Interaction: Q06330; IntAct: EBI-21881639; Score: 0.35
DE  Interaction: G5E9A7; IntAct: EBI-25842713; Score: 0.56
DE  Interaction: P14136; IntAct: EBI-25858284; Score: 0.56
DE  Interaction: P19404; IntAct: EBI-25876878; Score: 0.56
DE  Interaction: P07196; IntAct: EBI-25877605; Score: 0.56
DE  Interaction: P29474; IntAct: EBI-25878762; Score: 0.56
DE  Interaction: O76024; IntAct: EBI-25898453; Score: 0.56
DE  Interaction: O60333; IntAct: EBI-25915530; Score: 0.56
DE  Interaction: Q9Y3C5; IntAct: EBI-25918897; Score: 0.56
DE  Interaction: Q8WXH2; IntAct: EBI-25927865; Score: 0.56
DE  Interaction: Q7Z699; IntAct: EBI-25931866; Score: 0.56
DE  Interaction: P42858; IntAct: EBI-25954663; Score: 0.56
GO  GO:0070161;
GO  GO:0097440;
GO  GO:0030863;
GO  GO:0005737;
GO  GO:0030425;
GO  GO:0000791;
GO  GO:0016020;
GO  GO:0043005;
GO  GO:0005635;
GO  GO:0016363;
GO  GO:0031965;
GO  GO:0005654;
GO  GO:0005634;
GO  GO:0043204;
GO  GO:0005886;
GO  GO:0014069;
GO  GO:0045202;
GO  GO:0048306;
GO  GO:0071230;
GO  GO:0071257;
GO  GO:0071371;
GO  GO:2001224;
GO  GO:0035307;
GO  GO:0048814;
GO  GO:0043523;
GO  GO:0048168;
TP  Membrane Topology: Lipid-Anchored; Source: UniProt - By Similarity {ECO:0000250};
SQ  MGAAASRRRALRSEAMSSVAAKVRAARAFGEYLSQSHPENRNGADHLLADAYSGHDGSPEMQPAPQNKRRLSLVSNGCYE
SQ  GSLSEEPSIRKPAGEGPQPRVYTISGEPALLPSPEAEAIELAVVKGRRQRHPHHHSQPLRASPGGSREDVSRPCQSWAGS
SQ  RQGSKECPGCAQLAPGPTPRAFGLDQPPLPETSGRRKKLERMYSVDRVSDDIPIRTWFPKENLFSFQTATTTMQAISVFR
SQ  GYAERKRRKRENDSASVIQRNFRKHLRMVGSRRVKAQTFAERRERSFSRSWSDPTPMKADTSHDSRDSSDLQSSHCTLDE
SQ  AFEDLDWDTEKGLEAVACDTEGFVPPKVMLISSKVPKAEYIPTIIRRDDPSIIPILYDHEHATFEDILEEIERKLNVYHK
SQ  GAKIWKMLIFCQGGPGHLYLLKNKVATFAKVEKEEDMIHFWKRLSRLMSKVNPEPNVIHIMGCYILGNPNGEKLFQNLRT
SQ  LMTPYRVTFESPLELSAQGKQMIETYFDFRLYRLWKSRQHSKLLDFDDVL
//