• Gene id: 26012

Gene Summary

• Gene Symbol: NSMF   Gene   UCSC   Ensembl
• Aliases: HH9, NELF
• Gene name: NMDA receptor synaptonuclear signaling and neuronal migration factor
• Alternate names: NMDA receptor synaptonuclear signaling and neuronal migration factor, nasal embryonic LHRH factor, nasal embryonic luteinizing hormone-releasing hormone factor,
• Gene location: 9q34.3 (26045123: 25841729)     Exons: 16     NC_000008.11
• Gene summary(Entrez): 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 v
• OMIM: 608137

Protein Summary

• Protein general information: Q6X4W1  
  • Name: NMDA receptor synaptonuclear signaling and neuronal migration factor (Nasal embryonic luteinizing hormone releasing hormone factor) (Nasal embryonic LHRH factor)
  • Length: 530  
  • Mass: 60,143
• Sequence:

  MGAAASRRRALRSEAMSSVAAKVRAARAFGEYLSQSHPENRNGADHLLADAYSGHDGSPEMQPAPQNKRRLSLVS
  NGCYEGSLSEEPSIRKPAGEGPQPRVYTISGEPALLPSPEAEAIELAVVKGRRQRHPHHHSQPLRASPGGSREDV
  SRPCQSWAGSRQGSKECPGCAQLAPGPTPRAFGLDQPPLPETSGRRKKLERMYSVDRVSDDIPIRTWFPKENLFS
  FQTATTTMQAISVFRGYAERKRRKRENDSASVIQRNFRKHLRMVGSRRVKAQTFAERRERSFSRSWSDPTPMKAD
  TSHDSRDSSDLQSSHCTLDEAFEDLDWDTEKGLEAVACDTEGFVPPKVMLISSKVPKAEYIPTIIRRDDPSIIPI
  LYDHEHATFEDILEEIERKLNVYHKGAKIWKMLIFCQGGPGHLYLLKNKVATFAKVEKEEDMIHFWKRLSRLMSK
  VNPEPNVIHIMGCYILGNPNGEKLFQNLRTLMTPYRVTFESPLELSAQGKQMIETYFDFRLYRLWKSRQHSKLLD
  FDDVL

• Structural information:
  • Interpro: IPR033374  
  • STRING: ENSP00000360530
• Other Databases: GeneCards:  NSMF  Malacards:  NSMF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0005635	nuclear envelope	ISS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005719	nuclear euchromatin	ISS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0016363	nuclear matrix	ISS	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030863	cortical cytoskeleton	ISS	cellular component
GO:0031965	nuclear membrane	ISS	cellular component
GO:0035307	positive regulation of protein dephosphorylation	ISS	biological process
GO:0043005	neuron projection	ISS	cellular component
GO:0043204	perikaryon	ISS	cellular component
GO:0043523	regulation of neuron apoptotic process	ISS	biological process
GO:0045202	synapse	ISS	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0048168	regulation of neuronal synaptic plasticity	ISS	biological process
GO:0048306	calcium-dependent protein binding	ISS	molecular function
GO:0048814	regulation of dendrite morphogenesis	ISS	biological process
GO:0071230	cellular response to amino acid stimulus	ISS	biological process
GO:0071257	cellular response to electrical stimulus	ISS	biological process
GO:0071371	cellular response to gonadotropin stimulus	ISS	biological process
GO:0097440	apical dendrite	ISS	cellular component
GO:2001224	positive regulation of neuron migration	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005635	nuclear envelope	ISS	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005719	nuclear euchromatin	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016363	nuclear matrix	ISS	cellular component
GO:0016363	nuclear matrix	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030863	cortical cytoskeleton	ISS	cellular component
GO:0031965	nuclear membrane	ISS	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0035307	positive regulation of protein dephosphorylation	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0043204	perikaryon	ISS	cellular component
GO:0043523	regulation of neuron apoptotic process	ISS	biological process
GO:0045202	synapse	ISS	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0048168	regulation of neuronal synaptic plasticity	IEA	biological process
GO:0048168	regulation of neuronal synaptic plasticity	ISS	biological process
GO:0048306	calcium-dependent protein binding	ISS	molecular function
GO:0048814	regulation of dendrite morphogenesis	ISS	biological process
GO:0071230	cellular response to amino acid stimulus	ISS	biological process
GO:0071257	cellular response to electrical stimulus	ISS	biological process
GO:0071371	cellular response to gonadotropin stimulus	IEA	biological process
GO:0071371	cellular response to gonadotropin stimulus	ISS	biological process
GO:0097440	apical dendrite	ISS	cellular component
GO:2001222	regulation of neuron migration	IEA	biological process
GO:2001224	positive regulation of neuron migration	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005635	nuclear envelope	ISS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005719	nuclear euchromatin	ISS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0016363	nuclear matrix	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030863	cortical cytoskeleton	ISS	cellular component
GO:0031965	nuclear membrane	ISS	cellular component
GO:0035307	positive regulation of protein dephosphorylation	ISS	biological process
GO:0043005	neuron projection	ISS	cellular component
GO:0043204	perikaryon	ISS	cellular component
GO:0043523	regulation of neuron apoptotic process	ISS	biological process
GO:0045202	synapse	ISS	cellular component
GO:0048168	regulation of neuronal synaptic plasticity	ISS	biological process
GO:0048306	calcium-dependent protein binding	ISS	molecular function
GO:0048814	regulation of dendrite morphogenesis	ISS	biological process
GO:0071230	cellular response to amino acid stimulus	ISS	biological process
GO:0071257	cellular response to electrical stimulus	ISS	biological process
GO:0071371	cellular response to gonadotropin stimulus	ISS	biological process
GO:0097440	apical dendrite	ISS	cellular component
GO:2001224	positive regulation of neuron migration	IMP	biological process

Diseases

Associated diseases	References
Normosmic hypogonadotropic hypogonadism	MIK: 16423815
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Normosmic hypogonadotropic hypogonadism	MIK: 16423815
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16423815	Normosmic hypogonadotropic hypogonadism	KAL1 ((del1956C) in exon 12, 191 (Arg191X))	Brazili an	17 (12 Kallmann syndrome (KS), 5 normosmic hypogonadotropic hypogonadism (nHH) )	Male infertility	KAL-1 NELF and EBF2
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq