RBCC Red Blood Cell Collection

NSMF_HUMAN

Source: PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: NSMF , NELF
Protein names and data: NSMF_HUMAN , NMDA receptor synaptonuclear signaling and neuronal migration factor , Nasal embryonic luteinizing hormone-releasing hormone factor; Nasal embryonic LHRH factor Lenght: 530 a.a.
Mass: 60143 Da
fasta formatted sequence
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.
Disease: ( OMIM: 608137 614838 ) 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). 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).
Cellular location: Nucleus. Nucleus envelope (By similarity). Nucleus membrane (By similarity). Nucleus matrix (By similarity). Cytoplasm. Cytoplasm, cell cortex (By similarity). Cytoplasm, cytoskeleton (By similarity). Cell membrane; Peripheral membrane protein. Cell projection, dendrite (By similarity). Cell junction, synapse (By similarity). Cell junction, synapse, synaptosome (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Membrane (By similarity). 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).
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.

Genetic variants

196 - 196 R -> H (in HH9; phenotype consistent with Kallmann syndrome; the patient also carries a mutation in FGFR1). VAR_069967
480 - 480 T -> A (in HH9; sporadic case). VAR_023003
511 - 511 L -> V (in dbSNP:rs34177733). VAR_059699 34177733

Database cross-references

UniProt: Q6X4W1
Ensembl: ENST00000265663
Ensembl: ENST00000339554
Ensembl: ENST00000371472
Ensembl: ENST00000371473
Ensembl: ENST00000371474
Ensembl: ENST00000371475
Ensembl: ENST00000437259
MIM: 608137
MIM: 614838
neXtProt: NX_Q6X4W1
Antibodypedia: Q6X4W1 (may not find the protein thus also not any antibody)
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