NELF
entrez
26012
canonical
uniprot
Q6X4W1
canonical
ensembl
ENSG00000165802
resolver
ensp
ENSP00000265663
resolver
ensp
ENSP00000360528
resolver
ensp
ENSP00000360529
resolver
ensp
ENSP00000360530
resolver
ensp
ENSP00000412007
resolver
ensp
ENSP00000531225
resolver
ensp
ENSP00000531226
resolver
genesymbol
NELF
resolver
genesymbol
NSMF
resolver
genesymbol_syn
NELF
resolver
hgnc
HGNC:29843
resolver
uniprot
A8K7L5
resolver
uniprot
Q2TB96
resolver
uniprot
Q6X4V7
resolver
uniprot
Q6X4V8
resolver
uniprot
Q6X4V9
resolver
uniprot
Q8N2M2
resolver
uniprot
Q96SY1
resolver
uniprot
Q9NPM4
resolver
uniprot
Q9NPP3
resolver
uniprot
Q9NPS3
resolver
uniprot_entry
A8K7L5_HUMAN
resolver
uniprot_entry
NSMF_HUMAN
resolver
uniprot_sec
Q2TB96
resolver
uniprot_sec
Q6X4V7
resolver
uniprot_sec
Q6X4V8
resolver
uniprot_sec
Q6X4V9
resolver
uniprot_sec
Q8N2M2
resolver
uniprot_sec
Q96SY1
resolver
uniprot_sec
Q9NPM4
resolver
uniprot_sec
Q9NPP3
resolver
uniprot_sec
Q9NPS3
resolver
amino_acid_sequence
MGAAASRRRALRSEAMSSVAAKVRAARAFGEYLSQSHPENRNGADHLLADAYSGHDGSPEMQPAPQNKRRLSLVSNGCYEGSLSEEPSIRKPAGEGPQPRVYTISGEPALLPSPEAEAIELAVVKGRRQRHPHHHSQPLRASPGGSREDVSRPCQSWAGSRQGSKECPGCAQLAPGPTPRAFGLDQPPLPETSGRRKKLERMYSVDRVSDDIPIRTWFPKENLFSFQTATTTMQAISVFRGYAERKRRKRENDSASVIQRNFRKHLRMVGSRRVKAQTFAERRERSFSRSWSDPTPMKADTSHDSRDSSDLQSSHCTLDEAFEDLDWDTEKGLEAVACDTEGFVPPKVMLISSKVPKAEYIPTIIRRDDPSIIPILYDHEHATFEDILEEIERKLNVYHKGAKIWKMLIFCQGGPGHLYLLKNKVATFAKVEKEEDMIHFWKRLSRLMSKVNPEPNVIHIMGCYILGNPNGEKLFQNLRTLMTPYRVTFESPLELSAQGKQMIETYFDFRLYRLWKSRQHSKLLDFDDVL
uniprot
proteins
disease_involvement
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}.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
60143
uniprot
proteins
mutagenesis
MUTAGEN 247..250; /note="RRKR->AAKA: Localizes predominantly in the cytoplasm."; /evidence="ECO:0000269|PubMed:20025934"; MUTAGEN 263..264; /note="RK->AA: Localizes both in the cytoplasm and the nucleus."; /evidence="ECO:0000269|PubMed:20025934
uniprot
proteins
post_translational_modification
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}.
uniprot
proteins
protein_family
NSMF family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15362570
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20025934
uniprot
proteins
pubmed
21700882
uniprot
proteins
pubmed
23643382
uniprot
proteins
sequence_length
530
uniprot
proteins
subcellular_location
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}. 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}.
uniprot
proteins