• Gene id: 27020

Gene Summary

• Gene Symbol: NPTN   Gene   UCSC   Ensembl
• Aliases: GP55, GP65, SDFR1, SDR1, np55, np65
• Gene name: neuroplastin
• Alternate names: neuroplastin, SDR-1, stromal cell derived factor receptor 1, stromal cell-derived receptor 1,
• Gene location: 15q24.1 (73633388: 73560013)     Exons: 13     NC_000015.10
• Gene summary(Entrez): This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by R
• OMIM: 612820

Protein Summary

• Protein general information: Q9Y639  
  • Name: Neuroplastin (Stromal cell derived receptor 1) (SDR 1)
  • Length: 398  
  • Mass: 44387
  • Tissue specificity: Isoform 1 is ubiquitously expressed. Isoform 2 is expressed in brain cortex and cerebellum (at protein level). {ECO
• Sequence:

  MSGSSLPSALALSLLLVSGSLLPGPGAAQNAGFVKSPMSETKLTGDAFELYCDVVGSPTPEIQWWYAEVNRAESF
  RQLWDGARKRRVTVNTAYGSNGVSVLRITRLTLEDSGTYECRASNDPKRNDLRQNPSITWIRAQATISVLQKPRI
  VTSEEVIIRDSPVLPVTLQCNLTSSSHTLTYSYWTKNGVELSATRKNASNMEYRINKPRAEDSGEYHCVYHFVSA
  PKANATIEVKAAPDITGHKRSENKNEGQDATMYCKSVGYPHPDWIWRKKENGMPMDIVNTSGRFFIINKENYTEL
  NIVNLQITEDPGEYECNATNAIGSASVVTVLRVRSHLAPLWPFLGILAEIIILVVIIVVYEKRKRPDEVPDDDEP
  AGPMKTNSTNNHKDKNLRQRNTN

• Structural information:
  • Protein Domains: (29..13-)
    (/note="Ig-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00114-)
    (148..23-)
    (/note="Ig-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00114-)
    (238..32-)
    (/note="Ig-like-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU-)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR003598   IPR027112  
  • Prosite: PS50835
  • PDB: 6A69
  • PDBsum: 6A69
  • STRING: ENSP00000290401
• Other Databases: GeneCards:  NPTN  Malacards:  NPTN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	ISS	biological process
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0050839	cell adhesion molecule binding	ISS	molecular function
GO:0048170	positive regulation of long-term neuronal synaptic plasticity	ISS	biological process
GO:0070593	dendrite self-avoidance	IBA	biological process
GO:0030424	axon	IBA	cellular component
GO:0098632	cell-cell adhesion mediator activity	IBA	molecular function
GO:0007411	axon guidance	IBA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0060291	long-term synaptic potentiation	ISS	biological process
GO:0045743	positive regulation of fibroblast growth factor receptor signaling pathway	ISS	biological process
GO:0005105	type 1 fibroblast growth factor receptor binding	ISS	molecular function
GO:0001772	immunological synapse	ISS	cellular component
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0001818	negative regulation of cytokine production	ISS	biological process
GO:0010976	positive regulation of neuron projection development	ISS	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	ISS	biological process
GO:0001934	positive regulation of protein phosphorylation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:1900273	positive regulation of long-term synaptic potentiation	IEA	biological process
GO:0099557	trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission	IEA	biological process
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:0099059	integral component of presynaptic active zone membrane	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0097060	synaptic membrane	IEA	cellular component
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0050839	cell adhesion molecule binding	IEA	molecular function
GO:0014069	postsynaptic density	IEA	cellular component
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0008542	visual learning	IEA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:1904861	excitatory synapse assembly	IEA	biological process
GO:1902683	regulation of receptor localization to synapse	IEA	biological process
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:1903829	positive regulation of cellular protein localization	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0060077	inhibitory synapse	IEA	cellular component
GO:0048170	positive regulation of long-term neuronal synaptic plasticity	IEA	biological process
GO:0044325	ion channel binding	IEA	molecular function
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0050808	synapse organization	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0001818	negative regulation of cytokine production	IEA	biological process
GO:0001772	immunological synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0009986	cell surface	HDA	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