NSMF_HUMAN
ID NSMF_HUMAN Reviewed; 530 AA.
AC Q6X4W1; Q2TB96; Q6X4V7; Q6X4V8; Q6X4V9; Q8N2M2; Q96SY1; Q9NPM4; Q9NPP3;
AC Q9NPS3;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=NMDA receptor synaptonuclear signaling and neuronal migration factor;
DE AltName: Full=Nasal embryonic luteinizing hormone-releasing hormone factor;
DE Short=Nasal embryonic LHRH factor;
GN Name=NSMF; Synonyms=NELF;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), TISSUE SPECIFICITY,
RP AND VARIANT HH9 ALA-480.
RC TISSUE=Brain;
RX PubMed=15362570; DOI=10.1007/s10038-004-0137-4;
RA Miura K., Acierno J.S. Jr., Seminara S.B.;
RT "Characterization of the human nasal embryonic LHRH factor gene, NELF, and
RT a mutation screening among 65 patients with idiopathic hypogonadotropic
RT hypogonadism (IHH).";
RL J. Hum. Genet. 49:265-268(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Embryo;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 6).
RC TISSUE=Brain, and Colon;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 241-530.
RG The European IMAGE consortium;
RL Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP FUNCTION, MUTAGENESIS OF 247-ARG--ARG-250 AND 263-ARG-LYS-264, SUBCELLULAR
RP LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=20025934; DOI=10.1016/j.mce.2009.11.016;
RA Xu N., Bhagavath B., Kim H.G., Halvorson L., Podolsky R.S., Chorich L.P.,
RA Prasad P., Xiong W.C., Cameron R.S., Layman L.C.;
RT "NELF is a nuclear protein involved in hypothalamic GnRH neuronal
RT migration.";
RL Mol. Cell. Endocrinol. 319:47-55(2010).
RN [7]
RP VARIANT HH9 ALA-480.
RX PubMed=21700882; DOI=10.1073/pnas.1102284108;
RA Tornberg J., Sykiotis G.P., Keefe K., Plummer L., Hoang X., Hall J.E.,
RA Quinton R., Seminara S.B., Hughes V., Van Vliet G., Van Uum S.,
RA Crowley W.F., Habuchi H., Kimata K., Pitteloud N., Bulow H.E.;
RT "Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular
RT sugar modifications, is mutated in patients with idiopathic
RT hypogonadotrophic hypogonadism.";
RL Proc. Natl. Acad. Sci. U.S.A. 108:11524-11529(2011).
RN [8]
RP VARIANT HH9 HIS-196.
RX PubMed=23643382; DOI=10.1016/j.ajhg.2013.04.008;
RA Miraoui H., Dwyer A.A., Sykiotis G.P., Plummer L., Chung W., Feng B.,
RA Beenken A., Clarke J., Pers T.H., Dworzynski P., Keefe K., Niedziela M.,
RA Raivio T., Crowley W.F. Jr., Seminara S.B., Quinton R., Hughes V.A.,
RA Kumanov P., Young J., Yialamas M.A., Hall J.E., Van Vliet G.,
RA Chanoine J.P., Rubenstein J., Mohammadi M., Tsai P.S., Sidis Y., Lage K.,
RA Pitteloud N.;
RT "Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in
RT individuals with congenital hypogonadotropic hypogonadism.";
RL Am. J. Hum. Genet. 92:725-743(2013).
CC -!- FUNCTION: Couples NMDA-sensitive glutamate receptor signaling to the
CC nucleus and triggers long-lasting changes in the cytoarchitecture of
CC dendrites and spine synapse processes. Part of the cAMP response
CC element-binding protein (CREB) shut-off signaling pathway. Stimulates
CC outgrowth of olfactory axons and migration of gonadotropin-releasing
CC hormone (GnRH) and luteinizing-hormone-releasing hormone (LHRH)
CC neuronal cells. {ECO:0000269|PubMed:20025934}.
CC -!- SUBUNIT: Interacts with KPNA1; the interaction occurs in a calcium-
CC independent manner after synaptic NMDA receptor stimulation and is
CC required for nuclear import of NSMF but is competed by CABP1. Interacts
CC (via the central NLS-containing motif region) with CABP1 (via EF-hands
CC 1 and 2); the interaction occurs in a calcium-dependent manner after
CC synaptic NMDA receptor stimulation and prevents the nuclear import of
CC NSMF. Cannot be competed by calmodulin (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q6X4W1-2; Q9BPX5: ARPC5L; NbExp=3; IntAct=EBI-12028784, EBI-711189;
CC Q6X4W1-2; Q86Z20: CCDC125; NbExp=3; IntAct=EBI-12028784, EBI-11977221;
CC Q6X4W1-2; O95273: CCNDBP1; NbExp=3; IntAct=EBI-12028784, EBI-748961;
CC Q6X4W1-2; Q08379: GOLGA2; NbExp=3; IntAct=EBI-12028784, EBI-618309;
CC Q6X4W1-2; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-12028784, EBI-5916454;
CC Q6X4W1-2; O75031: HSF2BP; NbExp=3; IntAct=EBI-12028784, EBI-7116203;
CC Q6X4W1-2; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-12028784, EBI-14069005;
CC Q6X4W1-2; P25791-3: LMO2; NbExp=3; IntAct=EBI-12028784, EBI-11959475;
CC Q6X4W1-2; Q9BS40: LXN; NbExp=3; IntAct=EBI-12028784, EBI-1044504;
CC Q6X4W1-2; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-12028784, EBI-10172526;
CC Q6X4W1-2; O14950: MYL12B; NbExp=3; IntAct=EBI-12028784, EBI-1642165;
CC Q6X4W1-2; Q8ND90: PNMA1; NbExp=3; IntAct=EBI-12028784, EBI-302345;
CC Q6X4W1-2; Q16825: PTPN21; NbExp=3; IntAct=EBI-12028784, EBI-2860264;
CC Q6X4W1-2; P29377: S100G; NbExp=3; IntAct=EBI-12028784, EBI-22734539;
CC Q6X4W1-2; O14512: SOCS7; NbExp=3; IntAct=EBI-12028784, EBI-1539606;
CC Q6X4W1-2; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-12028784, EBI-1105213;
CC Q6X4W1-2; Q12933: TRAF2; NbExp=3; IntAct=EBI-12028784, EBI-355744;
CC Q6X4W1-2; Q15654: TRIP6; NbExp=3; IntAct=EBI-12028784, EBI-742327;
CC Q6X4W1-2; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-12028784, EBI-9090990;
CC Q6X4W1-2; P57075-2: UBASH3A; NbExp=3; IntAct=EBI-12028784, EBI-7353612;
CC Q6X4W1-6; G5E9A7: DMWD; NbExp=3; IntAct=EBI-25842707, EBI-10976677;
CC Q6X4W1-6; P14136: GFAP; NbExp=3; IntAct=EBI-25842707, EBI-744302;
CC Q6X4W1-6; P42858: HTT; NbExp=6; IntAct=EBI-25842707, EBI-466029;
CC Q6X4W1-6; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-25842707, EBI-1055254;
CC Q6X4W1-6; O60333-2: KIF1B; NbExp=3; IntAct=EBI-25842707, EBI-10975473;
CC Q6X4W1-6; P02545: LMNA; NbExp=3; IntAct=EBI-25842707, EBI-351935;
CC Q6X4W1-6; P19404: NDUFV2; NbExp=3; IntAct=EBI-25842707, EBI-713665;
CC Q6X4W1-6; P07196: NEFL; NbExp=3; IntAct=EBI-25842707, EBI-475646;
CC Q6X4W1-6; P35240: NF2; NbExp=3; IntAct=EBI-25842707, EBI-1014472;
CC Q6X4W1-6; P29474: NOS3; NbExp=3; IntAct=EBI-25842707, EBI-1391623;
CC Q6X4W1-6; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-25842707, EBI-396669;
CC Q6X4W1-6; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-25842707, EBI-5235340;
CC Q6X4W1-6; O76024: WFS1; NbExp=3; IntAct=EBI-25842707, EBI-720609;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20025934}. Nucleus
CC envelope {ECO:0000250}. Nucleus membrane {ECO:0000250}. Nucleus matrix
CC {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:20025934}. Cytoplasm, cell
CC cortex {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell
CC membrane {ECO:0000269|PubMed:20025934}; Peripheral membrane protein
CC {ECO:0000269|PubMed:20025934}. Cell projection, dendrite {ECO:0000250}.
CC Synapse {ECO:0000250}. Synapse, synaptosome {ECO:0000250}. Postsynaptic
CC density {ECO:0000250}. Membrane {ECO:0000250}. Note=Found on the
CC outside of the luteinizing-hormone-releasing hormone (LHRH) cell
CC membrane and axons projecting from the olfactory pit and epithelium.
CC Associates with transcriptionally active chromatin regions. Detected at
CC the nuclear membranes of CA1 neurons. Cortical cytoskeleton. Localized
CC in proximal apical dendrites. Colocalizes with CABP1 in dendrites and
CC dendritic spines. Myristoylation is a prerequisite for extranuclear
CC localization. Translocates from dendrites to the nucleus during NMDA
CC receptor-dependent long-term potentiation (LTP) induction of synaptic
CC transmission at Schaffer collateral/CA1 synapses of hippocampal primary
CC neurons and in a importin-dependent manner (By similarity).
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1; Synonyms=NELF-v1;
CC IsoId=Q6X4W1-1; Sequence=Displayed;
CC Name=2; Synonyms=NELF-v2;
CC IsoId=Q6X4W1-2; Sequence=VSP_014759;
CC Name=3; Synonyms=NELF-v3;
CC IsoId=Q6X4W1-3; Sequence=VSP_014760;
CC Name=4; Synonyms=NELF-v4;
CC IsoId=Q6X4W1-4; Sequence=VSP_014761;
CC Name=5; Synonyms=NELF-v5;
CC IsoId=Q6X4W1-5; Sequence=VSP_014762, VSP_014763;
CC Name=6;
CC IsoId=Q6X4W1-6; Sequence=VSP_014759, VSP_014760;
CC -!- TISSUE SPECIFICITY: Highly expressed in adult and fetal brain. Weakly
CC expressed in heart, liver, spleen, testis, small intestine, skeletal
CC muscle, peripheral white blood cells and kidney.
CC {ECO:0000269|PubMed:15362570, ECO:0000269|PubMed:20025934}.
CC -!- PTM: Proteolytically processed after NMDA receptor activation. Cleaved
CC in a calcium-dependent and calpain-sensitive manner. Calpain cleavage
CC is essential for the translocation process from dendrites to the
CC nucleus (By similarity). {ECO:0000250}.
CC -!- DISEASE: Hypogonadotropic hypogonadism 9 with or without anosmia (HH9)
CC [MIM:614838]: A disorder characterized by absent or incomplete sexual
CC maturation by the age of 18 years, in conjunction with low levels of
CC circulating gonadotropins and testosterone and no other abnormalities
CC of the hypothalamic-pituitary axis. In some cases, it is associated
CC with non-reproductive phenotypes, such as anosmia, cleft palate, and
CC sensorineural hearing loss. Anosmia or hyposmia is related to the
CC absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
CC is due to deficiency in gonadotropin-releasing hormone and probably
CC results from a failure of embryonic migration of gonadotropin-releasing
CC hormone-synthesizing neurons. In the presence of anosmia, idiopathic
CC hypogonadotropic hypogonadism is referred to as Kallmann syndrome,
CC whereas in the presence of a normal sense of smell, it has been termed
CC normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
CC {ECO:0000269|PubMed:15362570, ECO:0000269|PubMed:21700882,
CC ECO:0000269|PubMed:23643382}. Note=The disease is caused by variants
CC affecting distinct genetic loci, including the gene represented in this
CC entry. The genetics of hypogonadotropic hypogonadism involves various
CC modes of transmission. Oligogenic inheritance has been reported in some
CC patients carrying mutations in NSMF as well as in other HH-associated
CC genes including FGFR1 (PubMed:23643382). {ECO:0000269|PubMed:23643382}.
CC -!- MISCELLANEOUS: NSMF mRNAs expressed in the hippocampus exhibit a
CC prominent dendritic localization which is mediated by a dendritic
CC targeting element (DTE) residing in the 3'-untranslated region (3'UTR).
CC Transport from dendrites to the nucleus is induced by NMDA receptor
CC activation and results in a rapid stripping of synaptic contacts and a
CC reduction of dendritic complexity (By similarity). {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the NSMF family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB55139.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY255128; AAP83576.1; -; mRNA.
DR EMBL; AY255129; AAP83577.1; -; mRNA.
DR EMBL; AY255130; AAP83578.1; -; mRNA.
DR EMBL; AY255131; AAP83579.1; -; mRNA.
DR EMBL; AY255132; AAP83580.1; -; mRNA.
DR EMBL; AK027474; BAB55139.1; ALT_INIT; mRNA.
DR EMBL; AK074602; BAC11086.1; -; mRNA.
DR EMBL; AL365502; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC072412; AAH72412.1; -; mRNA.
DR EMBL; BC110498; AAI10499.1; -; mRNA.
DR EMBL; AL389944; CAB97524.1; -; mRNA.
DR EMBL; AL389946; CAB97525.1; -; mRNA.
DR EMBL; AL389945; CAB97542.1; -; mRNA.
DR CCDS; CCDS48067.1; -. [Q6X4W1-6]
DR CCDS; CCDS48068.1; -. [Q6X4W1-3]
DR CCDS; CCDS48069.1; -. [Q6X4W1-1]
DR CCDS; CCDS55357.1; -. [Q6X4W1-4]
DR CCDS; CCDS7044.1; -. [Q6X4W1-2]
DR PIR; T17341; T17341.
DR RefSeq; NP_001124441.1; NM_001130969.1. [Q6X4W1-1]
DR RefSeq; NP_001124442.1; NM_001130970.1. [Q6X4W1-3]
DR RefSeq; NP_001124443.1; NM_001130971.1. [Q6X4W1-6]
DR RefSeq; NP_001171535.1; NM_001178064.1. [Q6X4W1-4]
DR RefSeq; NP_056352.3; NM_015537.4. [Q6X4W1-2]
DR AlphaFoldDB; Q6X4W1; -.
DR SMR; Q6X4W1; -.
DR BioGRID; 117485; 32.
DR IntAct; Q6X4W1; 38.
DR STRING; 9606.ENSP00000360530; -.
DR iPTMnet; Q6X4W1; -.
DR PhosphoSitePlus; Q6X4W1; -.
DR BioMuta; NSMF; -.
DR DMDM; 71152011; -.
DR jPOST; Q6X4W1; -.
DR MassIVE; Q6X4W1; -.
DR PaxDb; Q6X4W1; -.
DR PeptideAtlas; Q6X4W1; -.
DR PRIDE; Q6X4W1; -.
DR ProteomicsDB; 67783; -. [Q6X4W1-1]
DR ProteomicsDB; 67784; -. [Q6X4W1-2]
DR ProteomicsDB; 67785; -. [Q6X4W1-3]
DR ProteomicsDB; 67786; -. [Q6X4W1-4]
DR ProteomicsDB; 67787; -. [Q6X4W1-5]
DR ProteomicsDB; 67788; -. [Q6X4W1-6]
DR Antibodypedia; 32451; 176 antibodies from 27 providers.
DR DNASU; 26012; -.
DR Ensembl; ENST00000265663.12; ENSP00000265663.7; ENSG00000165802.23. [Q6X4W1-2]
DR Ensembl; ENST00000371472.6; ENSP00000360527.1; ENSG00000165802.23. [Q6X4W1-2]
DR Ensembl; ENST00000371473.7; ENSP00000360528.3; ENSG00000165802.23. [Q6X4W1-4]
DR Ensembl; ENST00000371474.7; ENSP00000360529.3; ENSG00000165802.23. [Q6X4W1-6]
DR Ensembl; ENST00000371475.9; ENSP00000360530.3; ENSG00000165802.23. [Q6X4W1-1]
DR Ensembl; ENST00000437259.5; ENSP00000412007.1; ENSG00000165802.23. [Q6X4W1-3]
DR GeneID; 26012; -.
DR KEGG; hsa:26012; -.
DR MANE-Select; ENST00000371475.9; ENSP00000360530.3; NM_001130969.3; NP_001124441.1.
DR UCSC; uc004cmz.4; human. [Q6X4W1-1]
DR CTD; 26012; -.
DR DisGeNET; 26012; -.
DR GeneCards; NSMF; -.
DR GeneReviews; NSMF; -.
DR HGNC; HGNC:29843; NSMF.
DR HPA; ENSG00000165802; Tissue enriched (brain).
DR MalaCards; NSMF; -.
DR MIM; 608137; gene.
DR MIM; 614838; phenotype.
DR neXtProt; NX_Q6X4W1; -.
DR OpenTargets; ENSG00000165802; -.
DR Orphanet; 432; Normosmic congenital hypogonadotropic hypogonadism.
DR PharmGKB; PA134917144; -.
DR VEuPathDB; HostDB:ENSG00000165802; -.
DR eggNOG; ENOG502QRME; Eukaryota.
DR GeneTree; ENSGT00390000000459; -.
DR HOGENOM; CLU_038476_2_0_1; -.
DR InParanoid; Q6X4W1; -.
DR OMA; RQGSREC; -.
DR OrthoDB; 611342at2759; -.
DR PhylomeDB; Q6X4W1; -.
DR TreeFam; TF331286; -.
DR PathwayCommons; Q6X4W1; -.
DR SignaLink; Q6X4W1; -.
DR BioGRID-ORCS; 26012; 13 hits in 1078 CRISPR screens.
DR ChiTaRS; NSMF; human.
DR GeneWiki; Nasal_embryonic_LHRH_factor; -.
DR GenomeRNAi; 26012; -.
DR Pharos; Q6X4W1; Tbio.
DR PRO; PR:Q6X4W1; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q6X4W1; protein.
DR Bgee; ENSG00000165802; Expressed in cortical plate and 169 other tissues.
DR ExpressionAtlas; Q6X4W1; baseline and differential.
DR Genevisible; Q6X4W1; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0097440; C:apical dendrite; ISS:UniProtKB.
DR GO; GO:0030863; C:cortical cytoskeleton; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0030425; C:dendrite; ISS:UniProtKB.
DR GO; GO:0000791; C:euchromatin; ISS:UniProtKB.
DR GO; GO:0016020; C:membrane; ISS:UniProtKB.
DR GO; GO:0043005; C:neuron projection; ISS:UniProtKB.
DR GO; GO:0005635; C:nuclear envelope; ISS:UniProtKB.
DR GO; GO:0016363; C:nuclear matrix; ISS:UniProtKB.
DR GO; GO:0031965; C:nuclear membrane; ISS:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0043204; C:perikaryon; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0014069; C:postsynaptic density; ISS:UniProtKB.
DR GO; GO:0045202; C:synapse; ISS:UniProtKB.
DR GO; GO:0048306; F:calcium-dependent protein binding; ISS:UniProtKB.
DR GO; GO:0071230; P:cellular response to amino acid stimulus; ISS:UniProtKB.
DR GO; GO:0071257; P:cellular response to electrical stimulus; ISS:UniProtKB.
DR GO; GO:0071371; P:cellular response to gonadotropin stimulus; ISS:UniProtKB.
DR GO; GO:2001224; P:positive regulation of neuron migration; IMP:UniProtKB.
DR GO; GO:0035307; P:positive regulation of protein dephosphorylation; ISS:UniProtKB.
DR GO; GO:0048814; P:regulation of dendrite morphogenesis; ISS:UniProtKB.
DR GO; GO:0043523; P:regulation of neuron apoptotic process; ISS:UniProtKB.
DR GO; GO:0048168; P:regulation of neuronal synaptic plasticity; ISS:UniProtKB.
DR InterPro; IPR033374; NSMF.
DR PANTHER; PTHR32061; PTHR32061; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Cytoplasm;
KW Cytoskeleton; Disease variant; Hypogonadotropic hypogonadism;
KW Kallmann syndrome; Lipoprotein; Membrane; Myristate; Nucleus;
KW Phosphoprotein; Reference proteome; Synapse; Synaptosome.
FT INIT_MET 1
FT /note="Removed"
FT CHAIN 2..530
FT /note="NMDA receptor synaptonuclear signaling and neuronal
FT migration factor"
FT /id="PRO_0000096778"
FT REGION 2..233
FT /note="Necessary and sufficient to elicit dendritic
FT processes and synaptic contacts"
FT /evidence="ECO:0000250"
FT REGION 34..67
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 125..197
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 285..312
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 247..250
FT /note="Nuclear localization signal"
FT MOD_RES 204
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99NF2"
FT MOD_RES 290
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9EPI6"
FT MOD_RES 292
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9EPI6"
FT LIPID 2
FT /note="N-myristoyl glycine"
FT /evidence="ECO:0000250"
FT VAR_SEQ 236..237
FT /note="Missing (in isoform 2 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15362570, ECO:0000303|PubMed:15489334"
FT /id="VSP_014759"
FT VAR_SEQ 238..260
FT /note="Missing (in isoform 3 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:15362570,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_014760"
FT VAR_SEQ 278..307
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15362570"
FT /id="VSP_014761"
FT VAR_SEQ 350..402
FT /note="LISSKVPKAEYIPTIIRRDDPSIIPILYDHEHATFEDILEEIERKLNVYHKG
FT A -> VRPSPGSAPLHPEQDSAPTRVQPALPGTTQPSPAAWGRVSHRAIPLGCLAARR
FT (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15362570"
FT /id="VSP_014762"
FT VAR_SEQ 403..530
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15362570"
FT /id="VSP_014763"
FT VARIANT 196
FT /note="R -> H (in HH9; phenotype consistent with Kallmann
FT syndrome; the patient also carries a mutation in FGFR1;
FT dbSNP:rs770597015)"
FT /evidence="ECO:0000269|PubMed:23643382"
FT /id="VAR_069967"
FT VARIANT 480
FT /note="T -> A (in HH9; sporadic case; dbSNP:rs121918340)"
FT /evidence="ECO:0000269|PubMed:15362570,
FT ECO:0000269|PubMed:21700882"
FT /id="VAR_023003"
FT VARIANT 511
FT /note="L -> V (in dbSNP:rs34177733)"
FT /id="VAR_059699"
FT MUTAGEN 247..250
FT /note="RRKR->AAKA: Localizes predominantly in the
FT cytoplasm."
FT /evidence="ECO:0000269|PubMed:20025934"
FT MUTAGEN 263..264
FT /note="RK->AA: Localizes both in the cytoplasm and the
FT nucleus."
FT /evidence="ECO:0000269|PubMed:20025934"
SQ SEQUENCE 530 AA; 60143 MW; 7A18FDFD1F21A2D9 CRC64;
MGAAASRRRA LRSEAMSSVA AKVRAARAFG EYLSQSHPEN RNGADHLLAD AYSGHDGSPE
MQPAPQNKRR LSLVSNGCYE GSLSEEPSIR KPAGEGPQPR VYTISGEPAL LPSPEAEAIE
LAVVKGRRQR HPHHHSQPLR ASPGGSREDV SRPCQSWAGS RQGSKECPGC AQLAPGPTPR
AFGLDQPPLP ETSGRRKKLE RMYSVDRVSD DIPIRTWFPK ENLFSFQTAT TTMQAISVFR
GYAERKRRKR ENDSASVIQR NFRKHLRMVG SRRVKAQTFA ERRERSFSRS WSDPTPMKAD
TSHDSRDSSD LQSSHCTLDE AFEDLDWDTE KGLEAVACDT EGFVPPKVML ISSKVPKAEY
IPTIIRRDDP SIIPILYDHE HATFEDILEE IERKLNVYHK GAKIWKMLIF CQGGPGHLYL
LKNKVATFAK VEKEEDMIHF WKRLSRLMSK VNPEPNVIHI MGCYILGNPN GEKLFQNLRT
LMTPYRVTFE SPLELSAQGK QMIETYFDFR LYRLWKSRQH SKLLDFDDVL
