• Gene id: 4884

Gene Summary

• Gene Symbol: NPTX1   Gene   UCSC   Ensembl
• Aliases: NP1
• Gene name: neuronal pentraxin 1
• Alternate names: neuronal pentraxin-1, NP-I, neuronal pentraxin I,
• Gene location: 17q25.3 (80476606: 80466833)     Exons: 6     NC_000017.11
• Gene summary(Entrez): NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by
• OMIM: 602367

Protein Summary

• Protein general information: Q15818  
  • Name: Neuronal pentraxin 1 (NP1) (Neuronal pentraxin I) (NP I)
  • Length: 432  
  • Mass: 47122
• Sequence:

  MPAGRAARTCALLALCLLGAGAQDFGPTRFICTSVPVDADMCAASVAAGGAEELRSSVLQLRETVLQQKETILSQ
  KETIRELTAKLGRCESQSTLDPGAGEARAGGGRKQPGSGKNTMGDLSRTPAAETLSQLGQTLQSLKTRLENLEQY
  SRLNSSSQTNSLKDLLQSKIDELERQVLSRVNTLEEGKGGPRNDTEERVKIETALTSLHQRISELEKGQKDNRPG
  DKFQLTFPLRTNYMYAKVKKSLPEMYAFTVCMWLKSSATPGVGTPFSYAVPGQANELVLIEWGNNPMEILINDKV
  AKLPFVINDGKWHHICVTWTTRDGVWEAYQDGTQGGSGENLAPYHPIKPQGVLVLGQEQDTLGGGFDATQAFVGE
  LAHFNIWDRKLTPGEVYNLATCSTKALSGNVIAWAESHIEIYGGATKWTFEACRQIN

• Structural information:
  • Protein Domains: (226..42-)
    (/note="Pentraxin-(PTX))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01172"-)
  • Interpro: IPR013320  IPR030476  IPR001759  
  • Prosite: PS00289 PS51828
  • CDD: cd00152
  • STRING: ENSP00000307549
• Other Databases: GeneCards:  NPTX1  Malacards:  NPTX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0043005	neuron projection	IBA	cellular component
GO:0060385	axonogenesis involved in innervation	IBA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0060385	axonogenesis involved in innervation	IEA	biological process
GO:0030133	transport vesicle	IEA	cellular component
GO:0098962	regulation of postsynaptic neurotransmitter receptor activity	IMP	biological process
GO:0098962	regulation of postsynaptic neurotransmitter receptor activity	IDA	biological process
GO:0098962	regulation of postsynaptic neurotransmitter receptor activity	IDA	biological process
GO:0098962	regulation of postsynaptic neurotransmitter receptor activity	IDA	biological process
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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