• Gene id: 30010

Gene Summary

• Gene Symbol: NXPH1   Gene   UCSC   Ensembl
• Aliases: NPH1, Nbla00697
• Gene name: neurexophilin 1
• Alternate names: neurexophilin-1,
• Gene location: 7p21.3 (318818: 303351)     Exons: 12     NC_000024.10
• Gene summary(Entrez): This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very
• OMIM: 147310

Protein Summary

• Protein general information: P58417  
  • Name: Neurexophilin 1
  • Length: 271  
  • Mass: 31082
• Sequence:

  MQAACWYVLFLLQPTVYLVTCANLTNGGKSELLKSGSSKSTLKHIWTESSKDLSISRLLSQTFRGKENDTDLDLR
  YDTPEPYSEQDLWDWLRNSTDLQEPRPRAKRRPIVKTGKFKKMFGWGDFHSNIKTVKLNLLITGKIVDHGNGTFS
  VYFRHNSTGQGNVSVSLVPPTKIVEFDLAQQTVIDAKDSKSFNCRIEYEKVDKATKNTLCNYDPSKTCYQEQTQS
  HVSWLCSKPFKVICIYISFYSTDYKLVQKVCPDYNYHSDTPYFPSG

• Structural information:
  • Interpro: IPR010450  IPR026845  
  • STRING: ENSP00000384551
• Other Databases: GeneCards:  NXPH1  Malacards:  NXPH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R