NRXN1
entrez
9378
canonical
uniprot
P58400
canonical
uniprot
Q9ULB1
canonical
ensembl
ENSG00000179915
resolver
ensp
ENSP00000341184
resolver
ensp
ENSP00000367510
resolver
ensp
ENSP00000384311
resolver
ensp
ENSP00000385017
resolver
ensp
ENSP00000385142
resolver
ensp
ENSP00000385310
resolver
ensp
ENSP00000385580
resolver
ensp
ENSP00000396738
resolver
ensp
ENSP00000485815
resolver
ensp
ENSP00000485887
resolver
ensp
ENSP00000485912
resolver
ensp
ENSP00000486879
resolver
ensp
ENSP00000490494
resolver
enst
ENST00000378262
resolver
enst
ENST00000405581
resolver
enst
ENST00000412315
resolver
enst
ENST00000626899
resolver
enst
ENST00000628364
resolver
enst
ENST00000630543
resolver
genesymbol
NRXN1
resolver
genesymbol_syn
KIAA0578
resolver
hgnc
HGNC:8008
resolver
uniprot
A0A0D9SEM5
resolver
uniprot
A0A0D9SEQ7
resolver
uniprot
A0A1D5RMU6
resolver
uniprot
A7KRL9
resolver
uniprot
E7EQN4
resolver
uniprot
E7ERL8
resolver
uniprot
E7ETA5
resolver
uniprot
H0Y568
resolver
uniprot
H7BYC7
resolver
uniprot
O60323
resolver
uniprot
Q53TJ9
resolver
uniprot
Q53TQ1
resolver
uniprot
Q5HYI0
resolver
uniprot
Q9C079
resolver
uniprot
Q9C080
resolver
uniprot
Q9C081
resolver
uniprot
Q9H3M2
resolver
uniprot
Q9UDM6
resolver
uniprot_entry
A0A0D9SEM5_HUMAN
resolver
uniprot_entry
A0A0D9SEQ7_HUMAN
resolver
uniprot_entry
A0A1D5RMU6_HUMAN
resolver
uniprot_entry
E7EQN4_HUMAN
resolver
uniprot_entry
H0Y568_HUMAN
resolver
uniprot_entry
H7BYC7_HUMAN
resolver
uniprot_entry
NRX1A_HUMAN
resolver
uniprot_entry
NRX1B_HUMAN
resolver
uniprot_sec
A7KRL9
resolver
uniprot_sec
E7ERL8
resolver
uniprot_sec
E7ETA5
resolver
uniprot_sec
O60323
resolver
uniprot_sec
Q53TJ9
resolver
uniprot_sec
Q53TQ1
resolver
uniprot_sec
Q5HYI0
resolver
uniprot_sec
Q9C079
resolver
uniprot_sec
Q9C080
resolver
uniprot_sec
Q9C081
resolver
uniprot_sec
Q9H3M2
resolver
uniprot_sec
Q9UDM6
resolver
amino_acid_sequence
MGTALLQRGGCFLLCLSLLLLGCWAELGSGLEFPGAEGQWTRFPKWNACCESEMSFQLKTRSARGLVLYFDDEGFCDFLELILTRGGRLQLSFSIFCAEPATLLADTPVNDGAWHSVRIRRQFRNTTLFIDQVEAKWVEVKSKRRDMTVFSGLFVGGLPPELRAAALKLTLASVREREPFKGWIRDVRVNSSQVLPVDSGEVKLDDEPPNSGGGSPCEAGEEGEGGVCLNGGVCSVVDDQAVCDCSRTGFRGKDCSQEDNNVEGLAHLMMGDQGKSKGKEEYIATFKGSEYFCYDLSQNPIQSSSDEITLSFKTLQRNGLMLHTGKSADYVNLALKNGAVSLVINLGSGAFEALVEPVNGKFNDNAWHDVKVTRNLRQHSGIGHAMVTISVDGILTTTGYTQEDYTMLGSDDFFYVGGSPSTADLPGSPVSNNFMGCLKEVVYKNNDVRLELSRLAKQGDPKMKIHGVVAFKCENVATLDPITFETPESFISLPKWNAKKTGSISFDFRTTEPNGLILFSHGKPRHQKDAKHPQMIKVDFFAIEMLDGHLYLLLDMGSGTIKIKALLKKVNDGEWYHVDFQRDGRSGTISVNTLRTPYTAPGESEILDLDDELYLGGLPENKAGLVFPTEVWTALLNYGYVGCIRDLFIDGQSKDIRQMAEVQSTAGVKPSCSKETAKPCLSNPCKNNGMCRDGWNRYVCDCSGTGYLGRSCEREATVLSYDGSMFMKIQLPVVMHTEAEDVSLRFRSQRAYGILMATTSRDSADTLRLELDAGRVKLTVNLDCIRINCNSSKGPETLFAGYNLNDNEWHTVRVVRRGKSLKLTVDDQQAMTGQMAGDHTRLEFHNIETGIITERRYLSSVPSNFIGHLQSLTFNGMAYIDLCKNGDIDYCELNARFGFRNIIADPVTFKTKSSYVALATLQAYTSMHLFFQFKTTSLDGLILYNSGDGNDFIVVELVKGYLHYVFDLGNGANLIKGSSNKPLNDNQWHNVMISRDTSNLHTVKIDTKITTQITAGARNLDLKSDLYIGGVAKETYKSLPKLVHAKEGFQGCLASVDLNGRLPDLISDALFCNGQIERGCEGPSTTCQEDSCSNQGVCLQQWDGFSCDCSMTSFSGPLCNDPGTTYIFSKGGGQITYKWPPNDRPSTRADRLAIGFSTVQKEAVLVRVDSSSGLGDYLELHIHQGKIGVKFNVGTDDIAIEESNAIINDGKYHVVRFTRSGGNATLQVDSWPVIERYPAGRQLTIFNSQATIIIGGKEQGQPFQGQLSGLYYNGLKVLNMAAENDANIAIVGNVRLVGEVPSSMTTESTATAMQSEMSTSIMETTTTLATSTARRGKPPTKEPISQTTDDILVASAECPSDDEDIDPCEPSSGGLANPTRAGGREPYPGSAEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYHVDESRNYISNSAQSNGAVVKEKQPSSAKSSNKNKKNKDKEYYV
uniprot
proteins
amino_acid_sequence
MYQRMLRCGAELGSPGGGGGGGGGGGAGGRLALLWIVPLTLSGLLGVAWGASSLGAHHIHHFHGSSKHHSVPIAIYRSPASLRGGHAGTTYIFSKGGGQITYKWPPNDRPSTRADRLAIGFSTVQKEAVLVRVDSSSGLGDYLELHIHQGKIGVKFNVGTDDIAIEESNAIINDGKYHVVRFTRSGGNATLQVDSWPVIERYPAGNNDNERLAIARQRIPYRLGRVVDEWLLDKGRQLTIFNSQATIIIGGKEQGQPFQGQLSGLYYNGLKVLNMAAENDANIAIVGNVRLVGEVPSSMTTESTATAMQSEMSTSIMETTTTLATSTARRGKPPTKEPISQTTDDILVASAECPSDDEDIDPCEPSSGGLANPTRAGGREPYPGSAEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYHVDESRNYISNSAQSNGAVVKEKQPSSAKSSNKNKKNKDKEYYV
uniprot
proteins
disease_involvement
DISEASE: Pitt-Hopkins-like syndrome 2 (PTHSL2) [MIM:614325]: A syndrome characterized by severe intellectual disability and variable additional symptoms, such as impaired speech development, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. Other features include decreased reflexes in the upper extremities, constipation, strabismus, and protruding tongue with drooling. In contrast to patients with Pitt-Hopkins syndrome, PTHSL2 patients present with normal or only mildly to moderately delayed motor milestones. {ECO:0000269|PubMed:19896112}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Schizophrenia 17 (SCZD17) [MIM:621407]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269|PubMed:21424692}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cell surface protein involved in cell-cell-interactions, exocytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an important role in synaptic signal transmission. Alpha-type isoforms play a role in the regulation of calcium channel activity and Ca(2+)-triggered neurotransmitter release at synapses and at neuromuscular junctions. They play an important role in Ca(2+)-triggered exocytosis of secretory granules in pituitary gland. They may affect their functions at synapses and in endocrine cells via their interactions with proteins from the exocytotic machinery. Likewise, alpha-type isoforms play a role in regulating the activity of postsynaptic NMDA receptors, a subtype of glutamate-gated ion channels. Both alpha-type and beta-type isoforms may play a role in the formation or maintenance of synaptic junctions via their interactions (via the extracellular domains) with neuroligin family members, CBLN1 or CBLN2. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Alpha-type isoforms were first identified as receptors for alpha-latrotoxin from spider venom. {ECO:0000250|UniProtKB:Q9CS84}.
uniprot
proteins
function
FUNCTION: Neuronal cell surface protein involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins (By similarity). Plays a role in formation of synaptic junctions (By similarity). Functions as part of a trans-synaptic complex by binding to cerebellins and postsynaptic GRID1. This interaction helps regulate the activity of NMDA and AMPA receptors at hippocampal synapses without affecting synapse formation. NRXN1B-CBLN2-GRID1 complex transduce presynaptic signals into postsynaptic NMDAR response (By similarity). {ECO:0000250|UniProtKB:P0DI97, ECO:0000250|UniProtKB:Q63373}.
uniprot
proteins
mass_dalton
161883
uniprot
proteins
mass_dalton
50424
uniprot
proteins
post_translational_modification
PTM: O-glycosylated; contains heparan sulfate. Heparan sulfate attachment is required for synapse development by mediating interactions with neuroligins and LRRTM2. {ECO:0000250|UniProtKB:Q9CS84}.
uniprot
proteins
post_translational_modification
PTM: O-glycosylated; contains heparan sulfate. Heparan sulfate attachment is required for synapse development by mediating interactions with neuroligins. {ECO:0000250|UniProtKB:P0DI97}.
uniprot
proteins
protein_family
Neurexin family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11944992
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18084303
uniprot
proteins
pubmed
18179900
uniprot
proteins
pubmed
18423203
uniprot
proteins
pubmed
19896112
uniprot
proteins
pubmed
20090838
uniprot
proteins
pubmed
21424692
uniprot
proteins
pubmed
22892527
uniprot
proteins
pubmed
25352602
uniprot
proteins
pubmed
27418511
uniprot
proteins
pubmed
9628581
uniprot
proteins
pubmed
9921901
uniprot
proteins
sequence_length
1477
uniprot
proteins
sequence_length
472
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Presynaptic cell membrane {ECO:0000250|UniProtKB:P0DI97}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Presynaptic cell membrane {ECO:0000250|UniProtKB:Q9CS84}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 1402..1422; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins
transmembrane_region
TRANSMEM 397..417; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins