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Aliases for NSMF Gene

Aliases for NSMF Gene

  • NMDA Receptor Synaptonuclear Signaling And Neuronal Migration Factor 2 3 5
  • Nasal Embryonic LHRH Factor 2 3 4
  • Nasal Embryonic Luteinizing Hormone-Releasing Hormone Factor 3 4
  • NELF 3 4
  • HH9 3

External Ids for NSMF Gene

Previous HGNC Symbols for NSMF Gene

  • NELF

Previous GeneCards Identifiers for NSMF Gene

  • GC09M140343

Summaries for NSMF Gene

Entrez Gene Summary for NSMF Gene

  • The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for NSMF Gene

NSMF (NMDA Receptor Synaptonuclear Signaling And Neuronal Migration Factor) is a Protein Coding gene. Diseases associated with NSMF include hypogonadotropic hypogonadism 9 with or without anosmia and kallmann syndrome. GO annotations related to this gene include calcium-dependent protein binding.

UniProtKB/Swiss-Prot for NSMF Gene

  • 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.

Gene Wiki entry for NSMF Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSMF Gene

Genomics for NSMF Gene

Regulatory Elements for NSMF Gene

Promoters for NSMF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NSMF on UCSC Golden Path with GeneCards custom track

Genomic Location for NSMF Gene

Chromosome:
9
Start:
137,447,570 bp from pter
End:
137,459,357 bp from pter
Size:
11,788 bases
Orientation:
Minus strand

Genomic View for NSMF Gene

Genes around NSMF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSMF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSMF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSMF Gene

Proteins for NSMF Gene

  • Protein details for NSMF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6X4W1-NSMF_HUMAN
    Recommended name:
    NMDA receptor synaptonuclear signaling and neuronal migration factor
    Protein Accession:
    Q6X4W1
    Secondary Accessions:
    • Q2TB96
    • Q6X4V7
    • Q6X4V8
    • Q6X4V9
    • Q8N2M2
    • Q96SY1
    • Q9NPM4
    • Q9NPP3
    • Q9NPS3

    Protein attributes for NSMF Gene

    Size:
    530 amino acids
    Molecular mass:
    60143 Da
    Quaternary structure:
    • 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).
    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 (3UTR). 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).
    SequenceCaution:
    • 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};

    Alternative splice isoforms for NSMF Gene

neXtProt entry for NSMF Gene

Proteomics data for NSMF Gene at MOPED

Post-translational modifications for NSMF Gene

  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NSMF Gene

Domains & Families for NSMF Gene

Protein Domains for NSMF Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6X4W1

UniProtKB/Swiss-Prot:

NSMF_HUMAN :
  • Belongs to the NSMF family.
Family:
  • Belongs to the NSMF family.
genes like me logo Genes that share domains with NSMF: view

No data available for Gene Families for NSMF Gene

Function for NSMF Gene

Molecular function for NSMF Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with NSMF: view

Human Phenotype Ontology for NSMF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NSMF Gene

MGI Knock Outs for NSMF:
  • Nsmf tm1a(KOMP)Wtsi

Animal Model Products

CRISPR Products

miRNA for NSMF Gene

miRTarBase miRNAs that target NSMF

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for NSMF Gene

Localization for NSMF Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSMF Gene

Nucleus. Nucleus envelope. Nucleus membrane. Nucleus matrix. Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein. Cell projection, dendrite. Cell junction, synapse. Cell junction, synapse, synaptosome. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Membrane. 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}.

Gene Ontology (GO) - Cellular Components for NSMF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0014069 postsynaptic density ISS --
GO:0016363 nuclear matrix ISS --
GO:0030425 dendrite ISS --
GO:0030863 cortical cytoskeleton ISS --
genes like me logo Genes that share ontologies with NSMF: view

No data available for Subcellular locations from COMPARTMENTS for NSMF Gene

Pathways & Interactions for NSMF Gene

SuperPathways for NSMF Gene

No Data Available

Gene Ontology (GO) - Biological Process for NSMF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048168 regulation of neuronal synaptic plasticity ISS --
GO:0048814 regulation of dendrite morphogenesis ISS --
genes like me logo Genes that share ontologies with NSMF: view

No data available for Pathways by source and SIGNOR curated interactions for NSMF Gene

Drugs & Compounds for NSMF Gene

(2) Drugs for NSMF Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for NSMF Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NSMF: view

Transcripts for NSMF Gene

Unigene Clusters for NSMF Gene

NMDA receptor synaptonuclear signaling and neuronal migration factor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NSMF Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: -
SP5: - -
SP6: -
SP7:
SP8:
SP9:
SP10:

Relevant External Links for NSMF Gene

GeneLoc Exon Structure for
NSMF
ECgene alternative splicing isoforms for
NSMF

Expression for NSMF Gene

mRNA expression in normal human tissues for NSMF Gene

mRNA differential expression in normal tissues according to GTEx for NSMF Gene

This gene is overexpressed in Brain - Hippocampus (x6.6), Brain - Amygdala (x4.2), Brain - Cortex (x4.2), and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for NSMF Gene

This gene is overexpressed in Bone (63.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NSMF Gene



SOURCE GeneReport for Unigene cluster for NSMF Gene Hs.455336

mRNA Expression by UniProt/SwissProt for NSMF Gene

Q6X4W1-NSMF_HUMAN
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.
genes like me logo Genes that share expression patterns with NSMF: view

Protein tissue co-expression partners for NSMF Gene

Primer Products

In Situ Assay Products

Orthologs for NSMF Gene

This gene was present in the common ancestor of chordates.

Orthologs for NSMF Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NSMF 35
  • 91.22 (n)
  • 94.41 (a)
NSMF 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NSMF 35
  • 91.01 (n)
  • 96.04 (a)
-- 36
  • 92 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Nsmf 35
  • 89.81 (n)
  • 94.34 (a)
Nsmf 16
Nsmf 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nsmf 35
  • 89.81 (n)
  • 94.34 (a)
oppossum
(Monodelphis domestica)
Mammalia NSMF 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NSMF 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NSMF 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves NELF 35
  • 74.17 (n)
  • 77.86 (a)
NSMF 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSMF 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsmf 35
  • 72.12 (n)
  • 72.12 (a)
zebrafish
(Danio rerio)
Actinopterygii nsmfa 35
  • 67.12 (n)
  • 66.54 (a)
nsmfa 36
  • 52 (a)
OneToMany
nsmfb 36
  • 54 (a)
OneToMany
Species with no ortholog for NSMF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NSMF Gene

ENSEMBL:
Gene Tree for NSMF (if available)
TreeFam:
Gene Tree for NSMF (if available)

Paralogs for NSMF Gene

(2) SIMAP similar genes for NSMF Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NSMF: view

No data available for Paralogs for NSMF Gene

Variants for NSMF Gene

Sequence variations from dbSNP and Humsavar for NSMF Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_023003 Hypogonadotropic hypogonadism 9 with or without anosmia (HH9)
rs34177733 - 137,449,456(+) ATACA(A/C)CCGGA reference, missense
VAR_069967 Hypogonadotropic hypogonadism 9 with or without anosmia (HH9)
rs1054864 -- 137,447,994(+) AGACC(C/T)GGCGA downstream-variant-500B, utr-variant-3-prime
rs3793468 -- 137,455,835(-) CTGCA(A/G)TGACA intron-variant, upstream-variant-2KB

Variation tolerance for NSMF Gene

Residual Variation Intolerance Score: 18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.62; 13.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NSMF Gene

HapMap Linkage Disequilibrium report
NSMF
Human Gene Mutation Database (HGMD)
NSMF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NSMF Gene

Disorders for NSMF Gene

MalaCards: The human disease database

(5) MalaCards diseases for NSMF Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 9 with or without anosmia
  • hh9
kallmann syndrome
  • familial hypogonadism with anosmia
normosmic congenital hypogonadotropic hypogonadism
  • gonadotropic deficiency
nsmf-related isolated gonadotropin-releasing hormone deficiency
  • hypogonadotropic hypogonadism 9 with or without anosmia
hypogonadism
- elite association - COSMIC cancer census association via MalaCards
Search NSMF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NSMF_HUMAN
  • 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}.

Relevant External Links for NSMF

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NSMF
genes like me logo Genes that share disorders with NSMF: view

No data available for Genatlas for NSMF Gene

Publications for NSMF Gene

  1. Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). (PMID: 15362570) Miura K. … Seminara S.B. (J. Hum. Genet. 2004) 3 4 23 67
  2. Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons. (PMID: 10898796) Kramer P.R. … Wray S. (Genes Dev. 2000) 2 3 23
  3. Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1. (PMID: 19489874) Trarbach E.B. … Latronico A.C. (Clin. Endocrinol. (Oxf) 2010) 3 23
  4. NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration. (PMID: 20025934) Xu N. … Layman L.C. (Mol. Cell. Endocrinol. 2010) 3 23
  5. Cellular dynamics of the negative transcription elongation factor NELF. (PMID: 19245807) Yung T.M. … Handa H. (Exp. Cell Res. 2009) 3 23

Products for NSMF Gene

Sources for NSMF Gene

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