NSMF
NMDA receptor synaptonuclear signaling and neuronal migration factor
Also known as: NELF, NSMF_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6X4W1
- Gene
- NSMF
- Ensembl
- ENSG00000165802
- Chromosome
- 9
- Canonical length
- 530 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
530 residues, UniProt reviewed canonical sequence.
>Q6X4W1|NSMF
1 MGAAASRRRA LRSEAMSSVA AKVRAARAFG EYLSQSHPEN RNGADHLLAD AYSGHDGSPE
61 MQPAPQNKRR LSLVSNGCYE GSLSEEPSIR KPAGEGPQPR VYTISGEPAL LPSPEAEAIE
121 LAVVKGRRQR HPHHHSQPLR ASPGGSREDV SRPCQSWAGS RQGSKECPGC AQLAPGPTPR
181 AFGLDQPPLP ETSGRRKKLE RMYSVDRVSD DIPIRTWFPK ENLFSFQTAT TTMQAISVFR
241 GYAERKRRKR ENDSASVIQR NFRKHLRMVG SRRVKAQTFA ERRERSFSRS WSDPTPMKAD
301 TSHDSRDSSD LQSSHCTLDE AFEDLDWDTE KGLEAVACDT EGFVPPKVML ISSKVPKAEY
361 IPTIIRRDDP SIIPILYDHE HATFEDILEE IERKLNVYHK GAKIWKMLIF CQGGPGHLYL
421 LKNKVATFAK VEKEEDMIHF WKRLSRLMSK VNPEPNVIHI MGCYILGNPN GEKLFQNLRT
481 LMTPYRVTFE SPLELSAQGK QMIETYFDFR LYRLWKSRQH SKLLDFDDVLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NSMF can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.51
- Highest tissue expression
- 654 nTPM
Expression across tissuesHPA
Tissue
- hippocampal formation: 654 nTPM
- cerebral cortex: 404 nTPM
- amygdala: 366 nTPM
- basal ganglia: 168 nTPM
- blood vessel: 146 nTPM
- hypothalamus: 126 nTPM
Single-cell type
- ependymal cells: 192 nCPM
- astrocytes: 120 nCPM
- peritubular myoid cells: 84 nCPM
- proximal tubule cells: 79 nCPM
- bergmann glia: 77 nCPM
- epididymal efferent duct ciliated cells: 76 nCPM
Immune cell
- intermediate monocyte: 14 nTPM
- non-classical monocyte: 12 nTPM
- myeloid DC: 6.3 nTPM
- eosinophil: 3.6 nTPM
- classical monocyte: 2.1 nTPM
- total PBMC: 1.8 nTPM
Brain region
- hippocampal formation: 718 nTPM
- cerebral cortex: 709 nTPM
- thalamus: 400 nTPM
- amygdala: 307 nTPM
- midbrain: 285 nTPM
- basal ganglia: 281 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NSMF.
Disease | AllUniProt
Conditions NSMF is implicated in, by any mechanism.
- Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) MIM:614838
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 238 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Pituitary stalk interruption syndrome
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.44
- gnomAD pLI
- 0.26
- gnomAD missense Z
- 1.88
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to amino acid stimulus
- cellular response to electrical stimulus
- cellular response to gonadotropin stimulus
- positive regulation of neuron migration
- regulation of dendrite morphogenesis
- regulation of neuron apoptotic process
- regulation of neuronal synaptic plasticity
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SCN5A-like, C-terminal IQ motif
- SCN5A-like, C-terminal IQ motif
- NMDA receptor synaptonuclear signalling and neuronal migration factor
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NSMF in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NSMF as an antibody target. Whether an autoantibody or antibody against NSMF could matter depends on whether native NSMF is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NSMF is annotated at the cell surface, where native NSMF is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label NSMF as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...