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Aliases for NRXN1 Gene

Aliases for NRXN1 Gene

  • Neurexin 1 2 3
  • PTHSL2 3 6
  • SCZD17 3 6
  • Neurexin I-Alpha 4
  • Neurexin-1-Alpha 4
  • Neurexin-1-Beta 3
  • Neurexin I-Beta 4
  • Neurexin I 3
  • Hs.22998 3
  • KIAA0578 4

External Ids for NRXN1 Gene

Previous GeneCards Identifiers for NRXN1 Gene

  • GC02M050188
  • GC02M050326
  • GC02M050122
  • GC02M050059
  • GC02M050000
  • GC02M050145
  • GC02M049879

Summaries for NRXN1 Gene

Entrez Gene Summary for NRXN1 Gene

  • Neurexins function in the vertebrate nervous system as cell adhesion molecules and receptors. Two neurexin genes are among the largest known in human (NRXN1 and NRXN3). By using alternate promoters, splice sites and exons, predictions of hundreds or even thousands of distinct mRNAs have been made. Most transcripts use the upstream promoter and encode alpha-neurexin isoforms; fewer transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. Alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and they interact with neurexophilins. Beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. The RefSeq Project has decided to create only a few representative transcript variants of the multitude that are possible. [provided by RefSeq, Oct 2008]

GeneCards Summary for NRXN1 Gene

NRXN1 (Neurexin 1) is a Protein Coding gene. Diseases associated with NRXN1 include pitt-hopkins-like syndrome 2 and schizophrenia 17. Among its related pathways are Degradation of the extracellular matrix and Non-integrin membrane-ECM interactions. GO annotations related to this gene include receptor binding and calcium-dependent protein binding. An important paralog of this gene is CNTNAP1.

UniProtKB/Swiss-Prot for NRXN1 Gene

  • 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 effect 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 calcium-dependent 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 (By similarity).

  • Neuronal cell surface protein that may be involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins. May play a role in formation or maintenance of synaptic junctions. May mediate intracellular signaling. May play a role in angiogenesis (By similarity).

Gene Wiki entry for NRXN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NRXN1 Gene

Genomics for NRXN1 Gene

Regulatory Elements for NRXN1 Gene

Genomic Location for NRXN1 Gene

Start:
49,918,505 bp from pter
End:
51,032,536 bp from pter
Size:
1,114,032 bases
Orientation:
Minus strand

Genomic View for NRXN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NRXN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NRXN1 Gene

Proteins for NRXN1 Gene

  • Protein details for NRXN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58400-NRX1B_HUMAN
    Recommended name:
    Neurexin-1-beta
    Protein Accession:
    P58400
    Secondary Accessions:

    Protein attributes for NRXN1 Gene

    Size:
    442 amino acids
    Molecular mass:
    46861 Da
    Quaternary structure:
    • The cytoplasmic C-terminal region binds to CASK. Isoforms Beta 4b bind neuroligins NLGN1, NLGN2 and NLGN3, alpha-dystroglycan and alpha-latrotoxin. Binding to neuroligins is calcium-dependent, and the binding preference ranks as follow: NLGN1 > NLGN4 >> NLGN3 > NLGN2 (By similarity). Interacts with CBLN1, CBLN2 and more weakly with CBLN4. CBLN1-binding is calcium-independent (By similarity).
    SequenceCaution:
    • Sequence=AF064842; Type=Frameshift; Positions=54; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NRXN1 Gene

    Alternative splice isoforms for NRXN1 Gene

    UniProtKB/Swiss-Prot:
  • Protein details for NRXN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULB1-NRX1A_HUMAN
    Recommended name:
    Neurexin-1
    Protein Accession:
    Q9ULB1
    Secondary Accessions:
    • A7KRL9
    • O60323
    • Q53TJ9
    • Q53TQ1
    • Q9C079
    • Q9C080
    • Q9C081
    • Q9H3M2
    • Q9UDM6

    Protein attributes for NRXN1 Gene

    Size:
    1477 amino acids
    Molecular mass:
    161883 Da
    Quaternary structure:
    • Interacts (via laminin G-like domain 2 and/or laminin G-like domain 6) with NLGN1 forming a heterotetramer, where one NLGN1 dimer interacts with one NRXN1 dimer. Interacts (via laminin G-like domain 2 and/or laminin G-like domain 6) with NLGN1, NLGN2, NLGN3, NLGN4X and NLGN4Y; these interactions are calcium-dependent. Interacts (via laminin G-like domain 2) with NXPH1 and NXPH3. Interacts with CBLN1, CBLN2 and, less avidly, with CBLN4 (By similarity). Interacts with LRRTM1, LRRTM2, LRRTM3 and LRRTM4 (By similarity). Alpha-type isoforms (neurexin-1-alpha) interact (via laminin G-like domain 2 and/or laminin G-like domain 6) with DAG1 (via alpha-dystroglycan chain). Alpha-type isoforms interact with alpha-latrotoxin from spider venom. The cytoplasmic C-terminal region binds to CASK, CASKIN1 and APBA1. Interacts with SYT13 and SYTL1 (By similarity).
    SequenceCaution:
    • Sequence=BAA25504.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for NRXN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NRXN1 Gene

Proteomics data for NRXN1 Gene at MOPED

Post-translational modifications for NRXN1 Gene

No data available for DME Specific Peptides for NRXN1 Gene

Domains for NRXN1 Gene

Suggested Antigen Peptide Sequences for NRXN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULB1

UniProtKB/Swiss-Prot:

NRX1A_HUMAN :
  • Q9ULB1
Domain:
  • Contains 3 EGF-like domains.
  • Contains 6 laminin G-like domains.
  • Contains 1 laminin G-like domain.
Family:
  • Belongs to the neurexin family.
genes like me logo Genes that share domains with NRXN1: view

No data available for Gene Families for NRXN1 Gene

Function for NRXN1 Gene

Molecular function for NRXN1 Gene

GENATLAS Biochemistry: rat neurexin I alpha homolog longer form cell-surface protein,also coding for the shorter beta neurexin I form,both with multiple alternatively spliced isoforms and a CCG repeat in 5utr,binding the potent excitatory neurotoxin alpha-latrotoxin,potentially involved in neuronal cell adhesion and intercellular signaling
UniProtKB/Swiss-Prot 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 effect 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 calcium-dependent 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 (By similarity).
UniProtKB/Swiss-Prot Function: Neuronal cell surface protein that may be involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins. May play a role in formation or maintenance of synaptic junctions. May mediate intracellular signaling. May play a role in angiogenesis (By similarity).

Gene Ontology (GO) - Molecular Function for NRXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 1621094
GO:0004888 transmembrane signaling receptor activity ISS --
GO:0005102 receptor binding ISS --
GO:0005246 calcium channel regulator activity ISS --
GO:0005509 calcium ion binding ISS --
genes like me logo Genes that share ontologies with NRXN1: view
genes like me logo Genes that share phenotypes with NRXN1: view

Animal Models for NRXN1 Gene

MGI Knock Outs for NRXN1:

miRNA for NRXN1 Gene

miRTarBase miRNAs that target NRXN1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NRXN1 Gene

Localization for NRXN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NRXN1 Gene

Cell membrane; Single-pass type I membrane protein. Cell junction, synapse. Note=Localized on the pre-synaptic membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NRXN1 Gene COMPARTMENTS Subcellular localization image for NRXN1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NRXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum ISS --
GO:0005886 plasma membrane ISS --
GO:0005887 integral component of plasma membrane TAS 1621094
GO:0009986 cell surface ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NRXN1: view

Pathways for NRXN1 Gene

genes like me logo Genes that share pathways with NRXN1: view

Pathways by source for NRXN1 Gene

Interacting Proteins for NRXN1 Gene

Gene Ontology (GO) - Biological Process for NRXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis ISS --
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS --
GO:0007158 neuron cell-cell adhesion TAS 15797875
GO:0007165 signal transduction ISS --
GO:0007268 synaptic transmission ISS --
genes like me logo Genes that share ontologies with NRXN1: view

Compounds for NRXN1 Gene

(2) Novoseek inferred chemical compound relationships for NRXN1 Gene

Compound -log(P) Hits PubMed IDs
alpha-latrotoxin 80.1 2
tyrosine 0 1
genes like me logo Genes that share compounds with NRXN1: view

Transcripts for NRXN1 Gene

Unigene Clusters for NRXN1 Gene

Neurexin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NRXN1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e · 9f
SP1: - - - -
SP2: - - - -
SP3: - - - - -
SP4: - -
SP5: -
SP6:

Relevant External Links for NRXN1 Gene

GeneLoc Exon Structure for
NRXN1
ECgene alternative splicing isoforms for
NRXN1

Expression for NRXN1 Gene

mRNA expression in normal human tissues for NRXN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NRXN1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (7.4), Brain - Anterior cingulate cortex (BA24) (5.7), Brain - Cerebellar Hemisphere (5.1), and Brain - Cortex (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NRXN1 Gene

SOURCE GeneReport for Unigene cluster for NRXN1 Gene Hs.637685

mRNA Expression by UniProt/SwissProt for NRXN1 Gene

P58400-NRX1B_HUMAN
Tissue specificity: Brain.
genes like me logo Genes that share expressions with NRXN1: view

Orthologs for NRXN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NRXN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NRXN1 35
  • 99.63 (n)
  • 99.87 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 99 (a)
OneToMany
-- 36
  • 100 (a)
OneToMany
NRXN1 35
  • 93.4 (n)
  • 98.24 (a)
dog
(Canis familiaris)
Mammalia NRXN1 35
  • 94.8 (n)
  • 98.94 (a)
NRXN1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nrxn1 35
  • 92.04 (n)
  • 99.27 (a)
Nrxn1 16
Nrxn1 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NRXN1 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nrxn1 35
  • 91.86 (n)
  • 98.81 (a)
chicken
(Gallus gallus)
Aves NRXN1 35
  • 84.96 (n)
  • 94.48 (a)
NRXN1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NRXN1 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nrxn1 35
  • 79.64 (n)
  • 91 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.19533 35
nrxn1a 35
  • 72.92 (n)
  • 80.23 (a)
nrxn1a 36
  • 80 (a)
OneToMany
nrxn1b 36
  • 71 (a)
OneToMany
nrxn2b 36
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nrx-1 36
  • 29 (a)
OneToMany
Nrx-1 37
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea nrx-1 35
  • 44.29 (n)
  • 31.7 (a)
nrx-1 36
  • 23 (a)
OneToMany
C29A12.4 37
  • 27 (a)
Species with no ortholog for NRXN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NRXN1 Gene

ENSEMBL:
Gene Tree for NRXN1 (if available)
TreeFam:
Gene Tree for NRXN1 (if available)

Paralogs for NRXN1 Gene

Paralogs for NRXN1 Gene

genes like me logo Genes that share paralogs with NRXN1: view

Variants for NRXN1 Gene

Sequence variations from dbSNP and Humsavar for NRXN1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs2473 -- 50,595,325(-) ATCAA(A/G)GCATC intron-variant
rs475787 -- 50,226,379(-) TAATC(A/T)TTATT intron-variant
rs480327 -- 50,225,888(-) TCTCT(A/C)GTTAA intron-variant
rs480890 -- 50,195,399(-) TACTA(C/T)TGAAG intron-variant
rs481505 -- 50,188,371(+) attaa(C/G)tcaag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NRXN1 Gene

Variant ID Type Subtype PubMed ID
esv269090 CNV Insertion 20981092
esv2673826 CNV Deletion 23128226
nsv874031 CNV Loss 21882294
esv2720044 CNV Deletion 23290073
esv2720045 CNV Deletion 23290073
esv273381 CNV Insertion 20981092
nsv527569 CNV Loss 19592680
nsv470459 CNV Loss 18288195
nsv874032 CNV Loss 21882294
esv2676848 CNV Deletion 23128226
esv2669934 CNV Deletion 23128226
nsv508083 CNV Loss 20534489
esv275348 CNV Loss 21479260
esv267745 CNV Insertion 20981092
esv273903 CNV Insertion 20981092
nsv2724 CNV Loss 18451855
esv267915 CNV Insertion 20981092
nsv9724 CNV Loss 18304495
nsv817895 CNV Loss 17921354
nsv874033 CNV Loss 21882294
dgv1182e1 CNV Complex 17122850
esv9183 OTHER Inversion 19470904
nsv522125 CNV Loss 19592680
nsv874034 CNV Gain 21882294
nsv523020 CNV Loss 19592680
nsv874035 CNV Loss 21882294
dgv4119n71 CNV Loss 21882294
nsv829264 CNV Gain 20364138
dgv4120n71 CNV Loss 21882294
dgv4121n71 CNV Loss 21882294
nsv874043 CNV Loss 21882294
nsv874044 CNV Loss 21882294
nsv874045 CNV Loss 21882294
nsv521027 CNV Loss 19592680
esv2720046 CNV Deletion 23290073
nsv528678 CNV Loss 19592680
nsv874046 CNV Loss 21882294
nsv470460 CNV Loss 18288195
nsv526822 CNV Loss 19592680
nsv874047 CNV Loss 21882294
nsv457585 CNV Loss 19166990
nsv522899 CNV Loss 19592680
nsv874048 CNV Gain 21882294
esv2751896 CNV Loss 17911159
nsv520225 CNV Loss 19592680
nsv874049 CNV Loss 21882294
esv2670635 CNV Deletion 23128226
nsv457596 CNV Loss 19166990
nsv874050 CNV Loss 21882294
nsv457618 CNV Loss 19166990
nsv528417 CNV Loss 19592680
nsv874051 CNV Loss 21882294
nsv457629 CNV Loss 19166990
nsv528430 CNV Loss 19592680
dgv4122n71 CNV Loss 21882294
nsv470462 CNV Loss 18288195
esv2720047 CNV Deletion 23290073
esv2676871 CNV Deletion 23128226
nsv525262 CNV Loss 19592680
nsv874054 CNV Loss 21882294
esv34150 CNV Loss 18971310
nsv874055 CNV Loss 21882294
nsv834014 CNV Loss 17160897
esv2661557 CNV Deletion 23128226
nsv523528 CNV Loss 19592680
nsv508084 CNV Loss 20534489
nsv523833 CNV Loss 19592680
esv2720048 CNV Deletion 23290073
dgv627n67 CNV Loss 20364138
esv993206 CNV Loss 20482838
esv2720049 CNV Deletion 23290073
esv987833 CNV Deletion 20482838
esv2673816 CNV Deletion 23128226
dgv628n67 CNV Loss 20364138
esv28897 CNV Loss 19812545

Relevant External Links for NRXN1 Gene

HapMap Linkage Disequilibrium report
NRXN1
Human Gene Mutation Database (HGMD)
NRXN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NRXN1 Gene

Disorders for NRXN1 Gene

(2) OMIM Diseases for NRXN1 Gene (600565)

(1) Novoseek inferred disease relationships for NRXN1 Gene

Disease -log(P) Hits PubMed IDs
schizophrenia 2.74 11

Relevant External Links for NRXN1

Genetic Association Database (GAD)
NRXN1
Human Genome Epidemiology (HuGE) Navigator
NRXN1
genes like me logo Genes that share disorders with NRXN1: view

No data available for UniProtKB/Swiss-Prot for NRXN1 Gene

Publications for NRXN1 Gene

  1. Disruption of the neurexin 1 gene is associated with schizophrenia. (PMID: 18945720) Rujescu D. … Collier D.A. (Hum. Mol. Genet. 2009) 3 23 48
  2. Association of a polymorphism in the NRXN3 gene with the degree of smoking in schizophrenia: a preliminary study. (PMID: 19658047) Novak G. … Le Foll B. (World J. Biol. Psychiatry 2009) 3 23 48
  3. Association between neurexin 1 (NRXN1) polymorphisms and the smoking behavior of elderly Japanese. (PMID: 20414139) Sato N. … Sugimura H. (Psychiatr. Genet. 2010) 3 23 48
  4. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. (PMID: 20468056) Ching M.S. … Wu B.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 23 48
  5. Copy number variation in schizophrenia in the Japanese population. (PMID: 19880096) Ikeda M. … Iwata N. (Biol. Psychiatry 2010) 3 23 48

Products for NRXN1 Gene

  • Addgene plasmids for NRXN1

Sources for NRXN1 Gene

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