ENSG00000179915


Homo sapiens

Features
Gene ID: ENSG00000179915
  
Biological name :NRXN1
  
Synonyms : neurexin 1 / NRXN1 / P58400 / Q9ULB1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p16.3
Gene start: 49918505
Gene end: 51225575
  
Corresponding Affymetrix probe sets: 1558708_at (Human Genome U133 Plus 2.0 Array)   209914_s_at (Human Genome U133 Plus 2.0 Array)   209915_s_at (Human Genome U133 Plus 2.0 Array)   216096_s_at (Human Genome U133 Plus 2.0 Array)   228547_at (Human Genome U133 Plus 2.0 Array)   237535_x_at (Human Genome U133 Plus 2.0 Array)   240678_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000385681
Ensembl peptide - ENSP00000385580
Ensembl peptide - ENSP00000396738
Ensembl peptide - ENSP00000490494
Ensembl peptide - ENSP00000490210
Ensembl peptide - ENSP00000490198
Ensembl peptide - ENSP00000490017
Ensembl peptide - ENSP00000489745
Ensembl peptide - ENSP00000489573
Ensembl peptide - ENSP00000489258
Ensembl peptide - ENSP00000489108
Ensembl peptide - ENSP00000487268
Ensembl peptide - ENSP00000487165
Ensembl peptide - ENSP00000486993
Ensembl peptide - ENSP00000486879
Ensembl peptide - ENSP00000486544
Ensembl peptide - ENSP00000486253
Ensembl peptide - ENSP00000486185
Ensembl peptide - ENSP00000485912
Ensembl peptide - ENSP00000485887
Ensembl peptide - ENSP00000485815
Ensembl peptide - ENSP00000485723
Ensembl peptide - ENSP00000483634
Ensembl peptide - ENSP00000434015
Ensembl peptide - ENSP00000341184
Ensembl peptide - ENSP00000367510
Ensembl peptide - ENSP00000384311
Ensembl peptide - ENSP00000385017
Ensembl peptide - ENSP00000385142
Ensembl peptide - ENSP00000385310
Ensembl peptide - ENSP00000385434
NCBI entrez gene - 9378     See in Manteia.
OMIM - 600565
RefSeq - XM_017005337
RefSeq - XM_011533172
RefSeq - XM_011533174
RefSeq - XM_011533175
RefSeq - XM_011533177
RefSeq - XM_011533178
RefSeq - XM_011533180
RefSeq - XM_011533183
RefSeq - XM_017005303
RefSeq - XM_017005304
RefSeq - XM_017005305
RefSeq - XM_017005306
RefSeq - XM_017005307
RefSeq - XM_017005308
RefSeq - XM_017005309
RefSeq - XM_017005310
RefSeq - XM_017005311
RefSeq - XM_017005312
RefSeq - XM_017005313
RefSeq - XM_017005314
RefSeq - XM_017005315
RefSeq - XM_017005316
RefSeq - XM_017005317
RefSeq - XM_017005318
RefSeq - XM_017005319
RefSeq - XM_017005320
RefSeq - XM_017005321
RefSeq - XM_017005322
RefSeq - XM_017005323
RefSeq - XM_017005324
RefSeq - XM_017005325
RefSeq - XM_017005326
RefSeq - XM_017005327
RefSeq - XM_017005328
RefSeq - XM_017005329
RefSeq - XM_017005330
RefSeq - XM_017005331
RefSeq - XM_017005332
RefSeq - XM_017005333
RefSeq - XM_017005334
RefSeq - XM_017005335
RefSeq - XM_017005336
RefSeq - NM_001135659
RefSeq - NM_001320156
RefSeq - NM_001320157
RefSeq - NM_001330079
RefSeq - NM_001330081
RefSeq - NM_004801
RefSeq - NM_138735
RefSeq - XM_005264642
RefSeq - XM_005264643
RefSeq - XM_006712137
RefSeq - XM_006712140
RefSeq - XM_011533167
RefSeq - XM_011533171
RefSeq Peptide - NP_004792
RefSeq Peptide - NP_620072
RefSeq Peptide - NP_001317021
RefSeq Peptide - NP_001129131
RefSeq Peptide - NP_001307085
RefSeq Peptide - NP_001307086
RefSeq Peptide - NP_001317006
RefSeq Peptide - NP_001317007
RefSeq Peptide - NP_001317008
RefSeq Peptide - NP_001317010
RefSeq Peptide - NP_001317011
RefSeq Peptide - NP_001317020
swissprot - A0A0D9SG96
swissprot - A0A0D9SG60
swissprot - A0A0D9SFY6
swissprot - A0A0D9SFF4
swissprot - A0A0D9SF36
swissprot - A0A0D9SF07
swissprot - A0A0D9SEQ7
swissprot - A0A0D9SEP4
swissprot - E7ERL8
swissprot - F5GYC7
swissprot - F8WB18
swissprot - H0Y568
swissprot - H7BYC7
swissprot - P58400
swissprot - Q08AH0
swissprot - Q9ULB1
swissprot - A0A0D9SEJ1
swissprot - A0A0D9SEM5
swissprot - E7EQN4
swissprot - A0A1D5RMU6
swissprot - A0A1B0GVF4
swissprot - A0A1B0GUR2
swissprot - A0A1B0GUQ1
swissprot - A0A1B0GU94
swissprot - A0A1B0GTL0
swissprot - A0A0U1RRK7
swissprot - A0A0U1RR00
swissprot - A0A0U1RQP8
swissprot - A0A0R4J2G7
Ensembl - ENSG00000179915
  
Related genetic diseases (OMIM): 614325 - Pitt-Hopkins-like syndrome 2, 614325
  614332 - {Schizophrenia, susceptibility to, 17}, 614332
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 NRXN1ENSGALG00000009107Gallus gallus
 Nrxn1ENSMUSG00000024109Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NRXN2 / P58401 / Q9P2S2 / neurexin 2ENSG0000011007668
NRXN3 / Q9HDB5 / Q9Y4C0 / neurexin 3ENSG0000002164567
Q8WYK1 / CNTNAP5 / contactin associated protein like 5ENSG0000015505219
Q9BZ76 / CNTNAP3 / contactin associated protein like 3ENSG0000010671419
Q96NU0 / CNTNAP3B / contactin associated protein like 3BENSG0000015452919
Q9C0A0 / CNTNAP4 / contactin associated protein like 4ENSG0000015291019
Q9UHC6 / CNTNAP2 / contactin associated protein like 2ENSG0000017446918
P78357 / CNTNAP1 / contactin associated protein 1ENSG0000010879717
BX088645.1ENSG000002833788
AC104151.1ENSG000002618331


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001791  Laminin G domain
 IPR003585  Neurexin/syndecan/glycophorin C
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR021157  Cytochrome c1, transmembrane anchor, C-terminal
 IPR027789  Syndecan/Neurexin domain
 IPR037440  Neurexin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis ISS
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS
 biological_processGO:0007158 neuron cell-cell adhesion TAS
 biological_processGO:0007165 signal transduction ISS
 biological_processGO:0007268 chemical synaptic transmission IEA
 biological_processGO:0007269 neurotransmitter secretion IEA
 biological_processGO:0007411 axon guidance TAS
 biological_processGO:0007416 synapse assembly ISS
 biological_processGO:0007612 learning IMP
 biological_processGO:0010628 positive regulation of gene expression IDA
 biological_processGO:0010629 negative regulation of gene expression IDA
 biological_processGO:0010739 positive regulation of protein kinase A signaling IDA
 biological_processGO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules ISS
 biological_processGO:0021707 cerebellar granule cell differentiation ISS
 biological_processGO:0023041 neuronal signal transduction TAS
 biological_processGO:0030534 adult behavior IMP
 biological_processGO:0031175 neuron projection development IGI
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation IDA
 biological_processGO:0035176 social behavior IMP
 biological_processGO:0035418 protein localization to synapse ISS
 biological_processGO:0042297 vocal learning IMP
 biological_processGO:0045184 establishment of protein localization ISS
 biological_processGO:0045743 positive regulation of fibroblast growth factor receptor signaling pathway IDA
 biological_processGO:0050885 neuromuscular process controlling balance ISS
 biological_processGO:0051490 negative regulation of filopodium assembly ISS
 biological_processGO:0051897 positive regulation of protein kinase B signaling IDA
 biological_processGO:0051965 positive regulation of synapse assembly TAS
 biological_processGO:0051968 positive regulation of synaptic transmission, glutamatergic ISS
 biological_processGO:0060134 prepulse inhibition IEA
 biological_processGO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus IEA
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IDA
 biological_processGO:0071277 cellular response to calcium ion ISS
 biological_processGO:0071625 vocalization behavior IMP
 biological_processGO:0090126 protein-containing complex assembly involved in synapse maturation ISS
 biological_processGO:0090129 positive regulation of synapse maturation IEA
 biological_processGO:0097091 synaptic vesicle clustering ISS
 biological_processGO:0097104 postsynaptic membrane assembly ISS
 biological_processGO:0097105 presynaptic membrane assembly ISS
 biological_processGO:0097112 gamma-aminobutyric acid receptor clustering ISS
 biological_processGO:0097114 NMDA glutamate receptor clustering ISS
 biological_processGO:0097116 gephyrin clustering involved in postsynaptic density assembly ISS
 biological_processGO:0097117 guanylate kinase-associated protein clustering ISS
 biological_processGO:0097118 neuroligin clustering involved in postsynaptic membrane assembly ISS
 biological_processGO:0097119 postsynaptic density protein 95 clustering ISS
 biological_processGO:0097120 receptor localization to synapse ISS
 biological_processGO:0099560 synaptic membrane adhesion IEA
 biological_processGO:1900020 positive regulation of protein kinase C activity IDA
 biological_processGO:1903078 positive regulation of protein localization to plasma membrane ISS
 biological_processGO:1905520 positive regulation of presynaptic active zone assembly TAS
 biological_processGO:2000310 regulation of NMDA receptor activity ISS
 biological_processGO:2000311 regulation of AMPA receptor activity ISS
 biological_processGO:2000463 positive regulation of excitatory postsynaptic potential ISS
 biological_processGO:2000821 regulation of grooming behavior IEA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005783 endoplasmic reticulum ISS
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030139 endocytic vesicle ISS
 cellular_componentGO:0031965 nuclear membrane ISS
 cellular_componentGO:0031982 vesicle ISS
 cellular_componentGO:0042734 presynaptic membrane TAS
 cellular_componentGO:0043025 neuronal cell body ISS
 cellular_componentGO:0044295 axonal growth cone ISS
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0098793 presynapse NAS
 cellular_componentGO:0099056 integral component of presynaptic membrane TAS
 molecular_functionGO:0004888 transmembrane signaling receptor activity ISS
 molecular_functionGO:0005102 signaling receptor binding ISS
 molecular_functionGO:0005105 type 1 fibroblast growth factor receptor binding IDA
 molecular_functionGO:0005246 calcium channel regulator activity IEA
 molecular_functionGO:0005509 calcium ion binding ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0033130 acetylcholine receptor binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0048306 calcium-dependent protein binding ISS
 molecular_functionGO:0050839 cell adhesion molecule binding ISS
 molecular_functionGO:0097109 neuroligin family protein binding NAS


Pathways (from Reactome)
Pathway description
Neurexins and neuroligins
Non-integrin membrane-ECM interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000154 Wide mouth "Abnormally wide mouth." [HPO:curators]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001642 Pulmonic stenosis "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction." [HPO:curators]
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 HP:0002019 Constipation 
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 HP:0002020 Gastroesophageal reflux 
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 HP:0002136 Broad-based gait "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators]
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 HP:0002307 Drooling 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002883 Hyperventilation 
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 HP:0010808 Protruding tongue "Tongue extending beyond the alveolar ridges or teeth at rest." [pmid:19125428]
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0200134 Epileptic encephalopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000173402 DAG1 / Q14118 / dystroglycan 1  / reaction / complex






 

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