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NMDA receptor synaptonuclear signaling and neuronal migration factor (Nasal embryonic luteinizing hormone-releasing hormone factor) (Nasal embryonic LHRH factor)

 NSMF_HUMAN              Reviewed;         530 AA.
Q6X4W1; Q2TB96; Q6X4V7; Q6X4V8; Q6X4V9; Q8N2M2; Q96SY1; Q9NPM4;
Q9NPP3; Q9NPS3;
19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
05-JUL-2004, sequence version 1.
30-AUG-2017, entry version 120.
RecName: Full=NMDA receptor synaptonuclear signaling and neuronal migration factor;
AltName: Full=Nasal embryonic luteinizing hormone-releasing hormone factor;
Short=Nasal embryonic LHRH factor;
Name=NSMF; Synonyms=NELF;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), TISSUE
SPECIFICITY, AND VARIANT HH9 ALA-480.
TISSUE=Brain;
PubMed=15362570; DOI=10.1007/s10038-004-0137-4;
Miura K., Acierno J.S. Jr., Seminara S.B.;
"Characterization of the human nasal embryonic LHRH factor gene, NELF,
and a mutation screening among 65 patients with idiopathic
hypogonadotropic hypogonadism (IHH).";
J. Hum. Genet. 49:265-268(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Embryo;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164053; DOI=10.1038/nature02465;
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
Rogers J., Dunham I.;
"DNA sequence and analysis of human chromosome 9.";
Nature 429:369-374(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 6).
TISSUE=Brain, and Colon;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 241-530.
The European IMAGE consortium;
Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases.
[6]
FUNCTION, MUTAGENESIS OF 247-ARG--ARG-250 AND 263-ARG-LYS-264,
SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
PubMed=20025934; DOI=10.1016/j.mce.2009.11.016;
Xu N., Bhagavath B., Kim H.G., Halvorson L., Podolsky R.S.,
Chorich L.P., Prasad P., Xiong W.C., Cameron R.S., Layman L.C.;
"NELF is a nuclear protein involved in hypothalamic GnRH neuronal
migration.";
Mol. Cell. Endocrinol. 319:47-55(2010).
[7]
VARIANT HH9 ALA-480.
PubMed=21700882; DOI=10.1073/pnas.1102284108;
Tornberg J., Sykiotis G.P., Keefe K., Plummer L., Hoang X., Hall J.E.,
Quinton R., Seminara S.B., Hughes V., Van Vliet G., Van Uum S.,
Crowley W.F., Habuchi H., Kimata K., Pitteloud N., Bulow H.E.;
"Heparan sulfate 6-O-sulfotransferase 1, a gene involved in
extracellular sugar modifications, is mutated in patients with
idiopathic hypogonadotrophic hypogonadism.";
Proc. Natl. Acad. Sci. U.S.A. 108:11524-11529(2011).
[8]
VARIANT HH9 HIS-196.
PubMed=23643382; DOI=10.1016/j.ajhg.2013.04.008;
Miraoui H., Dwyer A.A., Sykiotis G.P., Plummer L., Chung W., Feng B.,
Beenken A., Clarke J., Pers T.H., Dworzynski P., Keefe K.,
Niedziela M., Raivio T., Crowley W.F. Jr., Seminara S.B., Quinton R.,
Hughes V.A., Kumanov P., Young J., Yialamas M.A., Hall J.E.,
Van Vliet G., Chanoine J.P., Rubenstein J., Mohammadi M., Tsai P.S.,
Sidis Y., Lage K., Pitteloud N.;
"Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in
individuals with congenital hypogonadotropic hypogonadism.";
Am. J. Hum. Genet. 92:725-743(2013).
-!- 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}.
-!- SUBUNIT: Interacts with KPNA1; the interaction occurs in a
calcium-independent manner after synaptic NMDA receptor
stimulation and is required for nuclear import of NSMF but is
competed by CABP1. Interacts (via the central NLS-containing motif
region) with CABP1 (via EF-hands 1 and 2); the interaction occurs
in a calcium-dependent manner after synaptic NMDA receptor
stimulation and prevents the nuclear import of NSMF. Cannot be
competed by calmodulin (By similarity). {ECO:0000250}.
-!- INTERACTION:
O95273:CCNDBP1; NbExp=4; IntAct=EBI-12028784, EBI-748961;
P25791-3:LMO2; NbExp=4; IntAct=EBI-12028784, EBI-11959475;
O14512:SOCS7; NbExp=4; IntAct=EBI-12028784, EBI-1539606;
-!- SUBCELLULAR LOCATION: 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}. Cell junction, synapse {ECO:0000250}. Cell
junction, synapse, synaptosome {ECO:0000250}. Cell junction,
synapse, postsynaptic cell membrane, 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}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=6;
Name=1; Synonyms=NELF-v1;
IsoId=Q6X4W1-1; Sequence=Displayed;
Name=2; Synonyms=NELF-v2;
IsoId=Q6X4W1-2; Sequence=VSP_014759;
Name=3; Synonyms=NELF-v3;
IsoId=Q6X4W1-3; Sequence=VSP_014760;
Name=4; Synonyms=NELF-v4;
IsoId=Q6X4W1-4; Sequence=VSP_014761;
Name=5; Synonyms=NELF-v5;
IsoId=Q6X4W1-5; Sequence=VSP_014762, VSP_014763;
Name=6;
IsoId=Q6X4W1-6; Sequence=VSP_014759, VSP_014760;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Highly expressed in adult and fetal brain.
Weakly expressed in heart, liver, spleen, testis, small intestine,
skeletal muscle, peripheral white blood cells and kidney.
{ECO:0000269|PubMed:15362570, ECO:0000269|PubMed:20025934}.
-!- PTM: Proteolytically processed after NMDA receptor activation.
Cleaved in a calcium-dependent and calpain-sensitive manner.
Calpain cleavage is essential for the translocation process from
dendrites to the nucleus (By similarity). {ECO:0000250}.
-!- 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
mutations 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}.
-!- MISCELLANEOUS: NSMF mRNAs expressed in the hippocampus exhibit a
prominent dendritic localization which is mediated by a dendritic
targeting element (DTE) residing in the 3'-untranslated region
(3'UTR). Transport from dendrites to the nucleus is induced by
NMDA receptor activation and results in a rapid stripping of
synaptic contacts and a reduction of dendritic complexity (By
similarity). {ECO:0000250}.
-!- SIMILARITY: Belongs to the NSMF family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=BAB55139.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=CAI14577.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Sequence=CAI14578.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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EMBL; AY255128; AAP83576.1; -; mRNA.
EMBL; AY255129; AAP83577.1; -; mRNA.
EMBL; AY255130; AAP83578.1; -; mRNA.
EMBL; AY255131; AAP83579.1; -; mRNA.
EMBL; AY255132; AAP83580.1; -; mRNA.
EMBL; AK027474; BAB55139.1; ALT_INIT; mRNA.
EMBL; AK074602; BAC11086.1; -; mRNA.
EMBL; AL365502; CAI14577.1; ALT_SEQ; Genomic_DNA.
EMBL; AL365502; CAI14578.1; ALT_SEQ; Genomic_DNA.
EMBL; BC072412; AAH72412.1; -; mRNA.
EMBL; BC110498; AAI10499.1; -; mRNA.
EMBL; AL389944; CAB97524.1; -; mRNA.
EMBL; AL389946; CAB97525.1; -; mRNA.
EMBL; AL389945; CAB97542.1; -; mRNA.
CCDS; CCDS48067.1; -. [Q6X4W1-6]
CCDS; CCDS48068.1; -. [Q6X4W1-3]
CCDS; CCDS48069.1; -. [Q6X4W1-1]
CCDS; CCDS55357.1; -. [Q6X4W1-4]
CCDS; CCDS7044.1; -. [Q6X4W1-2]
PIR; T17341; T17341.
RefSeq; NP_001124441.1; NM_001130969.1. [Q6X4W1-1]
RefSeq; NP_001124442.1; NM_001130970.1. [Q6X4W1-3]
RefSeq; NP_001124443.1; NM_001130971.1. [Q6X4W1-6]
RefSeq; NP_001171535.1; NM_001178064.1. [Q6X4W1-4]
RefSeq; NP_056352.3; NM_015537.4. [Q6X4W1-2]
UniGene; Hs.455336; -.
ProteinModelPortal; Q6X4W1; -.
SMR; Q6X4W1; -.
BioGrid; 117485; 8.
IntAct; Q6X4W1; 17.
MINT; MINT-1371927; -.
STRING; 9606.ENSP00000360530; -.
iPTMnet; Q6X4W1; -.
PhosphoSitePlus; Q6X4W1; -.
BioMuta; NSMF; -.
DMDM; 71152011; -.
PaxDb; Q6X4W1; -.
PeptideAtlas; Q6X4W1; -.
PRIDE; Q6X4W1; -.
Ensembl; ENST00000265663; ENSP00000265663; ENSG00000165802. [Q6X4W1-2]
Ensembl; ENST00000371472; ENSP00000360527; ENSG00000165802. [Q6X4W1-2]
Ensembl; ENST00000371473; ENSP00000360528; ENSG00000165802. [Q6X4W1-4]
Ensembl; ENST00000371474; ENSP00000360529; ENSG00000165802. [Q6X4W1-6]
Ensembl; ENST00000371475; ENSP00000360530; ENSG00000165802. [Q6X4W1-1]
Ensembl; ENST00000437259; ENSP00000412007; ENSG00000165802. [Q6X4W1-3]
GeneID; 26012; -.
KEGG; hsa:26012; -.
UCSC; uc004cmz.4; human. [Q6X4W1-1]
CTD; 26012; -.
DisGeNET; 26012; -.
GeneCards; MIR7114; -.
GeneCards; NSMF; -.
HGNC; HGNC:29843; NSMF.
HPA; HPA044316; -.
MalaCards; NSMF; -.
MIM; 608137; gene.
MIM; 614838; phenotype.
neXtProt; NX_Q6X4W1; -.
OpenTargets; ENSG00000165802; -.
Orphanet; 478; Kallmann syndrome.
Orphanet; 432; Normosmic congenital hypogonadotropic hypogonadism.
PharmGKB; PA134917144; -.
eggNOG; ENOG410IGJD; Eukaryota.
eggNOG; ENOG410YVK8; LUCA.
GeneTree; ENSGT00390000000459; -.
HOGENOM; HOG000231556; -.
HOVERGEN; HBG080324; -.
InParanoid; Q6X4W1; -.
OMA; SRPCQSW; -.
OrthoDB; EOG091G05OV; -.
PhylomeDB; Q6X4W1; -.
TreeFam; TF331286; -.
ChiTaRS; NSMF; human.
GeneWiki; Nasal_embryonic_LHRH_factor; -.
GenomeRNAi; 26012; -.
PRO; PR:Q6X4W1; -.
Proteomes; UP000005640; Chromosome 9.
Bgee; ENSG00000165802; -.
ExpressionAtlas; Q6X4W1; baseline and differential.
Genevisible; Q6X4W1; HS.
GO; GO:0097440; C:apical dendrite; ISS:UniProtKB.
GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
GO; GO:0030863; C:cortical cytoskeleton; ISS:UniProtKB.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0030425; C:dendrite; ISS:UniProtKB.
GO; GO:0016020; C:membrane; ISS:UniProtKB.
GO; GO:0043005; C:neuron projection; ISS:UniProtKB.
GO; GO:0005635; C:nuclear envelope; ISS:UniProtKB.
GO; GO:0005719; C:nuclear euchromatin; ISS:UniProtKB.
GO; GO:0016363; C:nuclear matrix; ISS:UniProtKB.
GO; GO:0031965; C:nuclear membrane; ISS:UniProtKB.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0043204; C:perikaryon; ISS:UniProtKB.
GO; GO:0014069; C:postsynaptic density; ISS:UniProtKB.
GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-KW.
GO; GO:0045202; C:synapse; ISS:UniProtKB.
GO; GO:0048306; F:calcium-dependent protein binding; ISS:UniProtKB.
GO; GO:0071230; P:cellular response to amino acid stimulus; ISS:UniProtKB.
GO; GO:0071257; P:cellular response to electrical stimulus; ISS:UniProtKB.
GO; GO:0071371; P:cellular response to gonadotropin stimulus; ISS:UniProtKB.
GO; GO:2001224; P:positive regulation of neuron migration; IMP:UniProtKB.
GO; GO:0035307; P:positive regulation of protein dephosphorylation; ISS:UniProtKB.
GO; GO:0048814; P:regulation of dendrite morphogenesis; ISS:UniProtKB.
GO; GO:0043523; P:regulation of neuron apoptotic process; ISS:UniProtKB.
GO; GO:0048168; P:regulation of neuronal synaptic plasticity; ISS:UniProtKB.
InterPro; IPR033374; NSMF.
PANTHER; PTHR32061; PTHR32061; 1.
1: Evidence at protein level;
Alternative splicing; Cell junction; Cell membrane; Cell projection;
Complete proteome; Cytoplasm; Cytoskeleton; Disease mutation;
Hypogonadotropic hypogonadism; Kallmann syndrome; Lipoprotein;
Membrane; Myristate; Nucleus; Phosphoprotein; Polymorphism;
Postsynaptic cell membrane; Reference proteome; Synapse; Synaptosome.
INIT_MET 1 1 Removed.
CHAIN 2 530 NMDA receptor synaptonuclear signaling
and neuronal migration factor.
/FTId=PRO_0000096778.
REGION 2 233 Necessary and sufficient to elicit
dendritic processes and synaptic
contacts. {ECO:0000250}.
MOTIF 247 250 Nuclear localization signal.
MOD_RES 204 204 Phosphoserine.
{ECO:0000250|UniProtKB:Q99NF2}.
MOD_RES 290 290 Phosphoserine.
{ECO:0000250|UniProtKB:Q9EPI6}.
MOD_RES 292 292 Phosphoserine.
{ECO:0000250|UniProtKB:Q9EPI6}.
LIPID 2 2 N-myristoyl glycine. {ECO:0000250}.
VAR_SEQ 236 237 Missing (in isoform 2 and isoform 6).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15362570,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_014759.
VAR_SEQ 238 260 Missing (in isoform 3 and isoform 6).
{ECO:0000303|PubMed:15362570,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_014760.
VAR_SEQ 278 307 Missing (in isoform 4).
{ECO:0000303|PubMed:15362570}.
/FTId=VSP_014761.
VAR_SEQ 350 402 LISSKVPKAEYIPTIIRRDDPSIIPILYDHEHATFEDILEE
IERKLNVYHKGA -> VRPSPGSAPLHPEQDSAPTRVQPAL
PGTTQPSPAAWGRVSHRAIPLGCLAARR (in isoform
5). {ECO:0000303|PubMed:15362570}.
/FTId=VSP_014762.
VAR_SEQ 403 530 Missing (in isoform 5).
{ECO:0000303|PubMed:15362570}.
/FTId=VSP_014763.
VARIANT 196 196 R -> H (in HH9; phenotype consistent with
Kallmann syndrome; the patient also
carries a mutation in FGFR1;
dbSNP:rs770597015).
{ECO:0000269|PubMed:23643382}.
/FTId=VAR_069967.
VARIANT 480 480 T -> A (in HH9; sporadic case;
dbSNP:rs121918340).
{ECO:0000269|PubMed:15362570,
ECO:0000269|PubMed:21700882}.
/FTId=VAR_023003.
VARIANT 511 511 L -> V (in dbSNP:rs34177733).
/FTId=VAR_059699.
MUTAGEN 247 250 RRKR->AAKA: Localizes predominantly in
the cytoplasm.
{ECO:0000269|PubMed:20025934}.
MUTAGEN 263 264 RK->AA: Localizes both in the cytoplasm
and the nucleus.
{ECO:0000269|PubMed:20025934}.
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


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