• Gene id: 9378

Gene Summary

• Gene Symbol: NRXN1   Gene   UCSC   Ensembl
• Aliases: Hs.22998, PTHSL2, SCZD17
• Gene name: neurexin 1
• Alternate names: neurexin-1, neurexin I,
• Gene location: 2p16.3 (230864184: 230879253)     Exons: 7     NC_000002.12
• Gene summary(Entrez): This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This
• OMIM: 600565

Protein Summary

• Protein general information: P58400  
  • Name: Neurexin 1 beta (Neurexin I beta)
  • Length: 472  
  • Mass: 50424
• Sequence:

  MYQRMLRCGAELGSPGGGGGGGGGGGAGGRLALLWIVPLTLSGLLGVAWGASSLGAHHIHHFHGSSKHHSVPIAI
  YRSPASLRGGHAGTTYIFSKGGGQITYKWPPNDRPSTRADRLAIGFSTVQKEAVLVRVDSSSGLGDYLELHIHQG
  KIGVKFNVGTDDIAIEESNAIINDGKYHVVRFTRSGGNATLQVDSWPVIERYPAGNNDNERLAIARQRIPYRLGR
  VVDEWLLDKGRQLTIFNSQATIIIGGKEQGQPFQGQLSGLYYNGLKVLNMAAENDANIAIVGNVRLVGEVPSSMT
  TESTATAMQSEMSTSIMETTTTLATSTARRGKPPTKEPISQTTDDILVASAECPSDDEDIDPCEPSSGGLANPTR
  AGGREPYPGSAEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYHVDESRNYISNSAQSNGAVVKE
  KQPSSAKSSNKNKKNKDKEYYV

• Structural information:
  • Protein Domains: (91..28-)
    (/note="Laminin-G-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00122"-)
  • Interpro: IPR013320  IPR001791  IPR003585  IPR027789  
  • Prosite: PS50025
  • PDB: 3B3Q 5Z8Y
  • PDBsum: 3B3Q 5Z8Y
  • DIP: 46402
• Other Databases: GeneCards:  NRXN1  Malacards:  NRXN1
• Protein general information: Q9ULB1  
  
  Name: Neurexin 1 (Neurexin I alpha) (Neurexin 1 alpha)
  
  Length: 1477  Mass: 161883
  
  Tissue specificity: Brain. {ECO
• Sequence: MGTALLQRGGCFLLCLSLLLLGCWAELGSGLEFPGAEGQWTRFPKWNACCESEMSFQLKTRSARGLVLYFDDEGF
  CDFLELILTRGGRLQLSFSIFCAEPATLLADTPVNDGAWHSVRIRRQFRNTTLFIDQVEAKWVEVKSKRRDMTVF
  SGLFVGGLPPELRAAALKLTLASVREREPFKGWIRDVRVNSSQVLPVDSGEVKLDDEPPNSGGGSPCEAGEEGEG
  GVCLNGGVCSVVDDQAVCDCSRTGFRGKDCSQEDNNVEGLAHLMMGDQGKSKGKEEYIATFKGSEYFCYDLSQNP
  IQSSSDEITLSFKTLQRNGLMLHTGKSADYVNLALKNGAVSLVINLGSGAFEALVEPVNGKFNDNAWHDVKVTRN
  LRQHSGIGHAMVTISVDGILTTTGYTQEDYTMLGSDDFFYVGGSPSTADLPGSPVSNNFMGCLKEVVYKNNDVRL
  ELSRLAKQGDPKMKIHGVVAFKCENVATLDPITFETPESFISLPKWNAKKTGSISFDFRTTEPNGLILFSHGKPR
  HQKDAKHPQMIKVDFFAIEMLDGHLYLLLDMGSGTIKIKALLKKVNDGEWYHVDFQRDGRSGTISVNTLRTPYTA
  PGESEILDLDDELYLGGLPENKAGLVFPTEVWTALLNYGYVGCIRDLFIDGQSKDIRQMAEVQSTAGVKPSCSKE
  TAKPCLSNPCKNNGMCRDGWNRYVCDCSGTGYLGRSCEREATVLSYDGSMFMKIQLPVVMHTEAEDVSLRFRSQR
  AYGILMATTSRDSADTLRLELDAGRVKLTVNLDCIRINCNSSKGPETLFAGYNLNDNEWHTVRVVRRGKSLKLTV
  DDQQAMTGQMAGDHTRLEFHNIETGIITERRYLSSVPSNFIGHLQSLTFNGMAYIDLCKNGDIDYCELNARFGFR
  NIIADPVTFKTKSSYVALATLQAYTSMHLFFQFKTTSLDGLILYNSGDGNDFIVVELVKGYLHYVFDLGNGANLI
  KGSSNKPLNDNQWHNVMISRDTSNLHTVKIDTKITTQITAGARNLDLKSDLYIGGVAKETYKSLPKLVHAKEGFQ
  GCLASVDLNGRLPDLISDALFCNGQIERGCEGPSTTCQEDSCSNQGVCLQQWDGFSCDCSMTSFSGPLCNDPGTT
  YIFSKGGGQITYKWPPNDRPSTRADRLAIGFSTVQKEAVLVRVDSSSGLGDYLELHIHQGKIGVKFNVGTDDIAI
  EESNAIINDGKYHVVRFTRSGGNATLQVDSWPVIERYPAGRQLTIFNSQATIIIGGKEQGQPFQGQLSGLYYNGL
  KVLNMAAENDANIAIVGNVRLVGEVPSSMTTESTATAMQSEMSTSIMETTTTLATSTARRGKPPTKEPISQTTDD
  ILVASAECPSDDEDIDPCEPSSGGLANPTRAGGREPYPGSAEVIRESSSTTGMVVGIVAAAALCILILLYAMYKY
  RNRDEGSYHVDESRNYISNSAQSNGAVVKEKQPSSAKSSNKNKKNKDKEYYV
• Structural information:

  Protein Domains	(31..21-) 1 (/note="Laminin-G-like) (/evidence="ECO:0000255|PROSITE-ProRule:PRU00122-) (213..25-) (/note="EGF-like-1) (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-) (283..47-) 2 (/note="Laminin-G-like) (/evidence="ECO:0000255|PROS-)
  Interpro:	IPR013320  IPR000742  IPR000152  IPR001791  IPR003585   IPR027789
  Prosite:	PS00010 PS50026 PS50025
  PDB:	6NID
  PDBsum:	6NID
  STRING:	ENSP00000385142

• Other Databases: GeneCards:  NRXN1  Malacards:  NRXN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0090126	protein-containing complex assembly involved in synapse maturation	ISS	biological process
GO:0097109	neuroligin family protein binding	ISS	molecular function
GO:0005102	signaling receptor binding	ISS	molecular function
GO:0048306	calcium-dependent protein binding	ISS	molecular function
GO:0050839	cell adhesion molecule binding	ISS	molecular function
GO:0050839	cell adhesion molecule binding	ISS	molecular function
GO:0004888	transmembrane signaling receptor activity	ISS	molecular function
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS	biological process
GO:0007158	neuron cell-cell adhesion	ISS	biological process
GO:0007158	neuron cell-cell adhesion	TAS	biological process
GO:0023041	neuronal signal transduction	TAS	biological process
GO:0035176	social behavior	IMP	biological process
GO:0042734	presynaptic membrane	TAS	cellular component
GO:0044295	axonal growth cone	ISS	cellular component
GO:0051968	positive regulation of synaptic transmission, glutamatergic	ISS	biological process
GO:0097112	gamma-aminobutyric acid receptor clustering	ISS	biological process
GO:0097114	NMDA glutamate receptor clustering	ISS	biological process
GO:0097117	guanylate kinase-associated protein clustering	ISS	biological process
GO:0097118	neuroligin clustering involved in postsynaptic membrane assembly	ISS	biological process
GO:0097119	postsynaptic density protein 95 clustering	ISS	biological process
GO:0097120	receptor localization to synapse	ISS	biological process
GO:2000463	positive regulation of excitatory postsynaptic potential	ISS	biological process
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0007165	signal transduction	ISS	biological process
GO:1905520	positive regulation of presynaptic active zone assembly	TAS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0007416	synapse assembly	ISS	biological process
GO:0007612	learning	IMP	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0016339	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	ISS	biological process
GO:0021707	cerebellar granule cell differentiation	ISS	biological process
GO:0030139	endocytic vesicle	ISS	cellular component
GO:0030534	adult behavior	IMP	biological process
GO:0035418	protein localization to synapse	ISS	biological process
GO:0045184	establishment of protein localization	ISS	biological process
GO:0051490	negative regulation of filopodium assembly	ISS	biological process
GO:0071625	vocalization behavior	IMP	biological process
GO:1903078	positive regulation of protein localization to plasma membrane	ISS	biological process
GO:0097091	synaptic vesicle clustering	ISS	biological process
GO:0097104	postsynaptic membrane assembly	ISS	biological process
GO:0097105	presynaptic membrane assembly	ISS	biological process
GO:0097116	gephyrin clustering involved in postsynaptic density assembly	ISS	biological process
GO:2000310	regulation of NMDA receptor activity	ISS	biological process
GO:2000311	regulation of AMPA receptor activity	ISS	biological process
GO:0031965	nuclear membrane	ISS	cellular component
GO:0031982	vesicle	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0051965	positive regulation of synapse assembly	TAS	biological process
GO:0099056	integral component of presynaptic membrane	TAS	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:1900020	positive regulation of protein kinase C activity	IDA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0005105	type 1 fibroblast growth factor receptor binding	IDA	molecular function
GO:0097109	neuroligin family protein binding	NAS	molecular function
GO:0097109	neuroligin family protein binding	ISS	molecular function
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0045743	positive regulation of fibroblast growth factor receptor signaling pathway	IDA	biological process
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0010739	positive regulation of protein kinase A signaling	IDA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IDA	biological process
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IDA	biological process
GO:0098793	presynapse	NAS	cellular component
GO:0071277	cellular response to calcium ion	ISS	biological process
GO:0031175	neuron projection development	IGI	biological process
GO:0001525	angiogenesis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules

Diseases

Associated diseases	References
Pitt-Hopkins syndrome	KEGG:H00756
Pitt-Hopkins syndrome	KEGG:H00756
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R