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Aliases for NLGN1 Gene

Aliases for NLGN1 Gene

  • Neuroligin 1 2 3 5
  • EC 3.1.1.1 63
  • KIAA1070 4
  • EC 3.1.1 63
  • NL1 3

External Ids for NLGN1 Gene

Previous GeneCards Identifiers for NLGN1 Gene

  • GC03P170368
  • GC03P174328
  • GC03P174704
  • GC03P174437
  • GC03P174635
  • GC03P173114
  • GC03P170489

Summaries for NLGN1 Gene

Entrez Gene Summary for NLGN1 Gene

  • This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008]

GeneCards Summary for NLGN1 Gene

NLGN1 (Neuroligin 1) is a Protein Coding gene. Diseases associated with NLGN1 include Corneal Granular Dystrophy and Corneal Dystrophy, Avellino Type. Among its related pathways are Cell adhesion molecules (CAMs). GO annotations related to this gene include hydrolase activity and protein dimerization activity. An important paralog of this gene is CES2.

UniProtKB/Swiss-Prot for NLGN1 Gene

  • Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and probably mediates its effects by recruiting and clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Required to maintain wakefulness quality and normal synchrony of cerebral cortex activity during wakefulness and sleep.

Gene Wiki entry for NLGN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NLGN1 Gene

Genomics for NLGN1 Gene

Regulatory Elements for NLGN1 Gene

Enhancers for NLGN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NLGN1 on UCSC Golden Path with GeneCards custom track

Promoters for NLGN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NLGN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NLGN1 Gene

Chromosome:
3
Start:
173,396,284 bp from pter
End:
174,286,644 bp from pter
Size:
890,361 bases
Orientation:
Plus strand

Genomic View for NLGN1 Gene

Genes around NLGN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLGN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLGN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLGN1 Gene

Proteins for NLGN1 Gene

  • Protein details for NLGN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N2Q7-NLGN1_HUMAN
    Recommended name:
    Neuroligin-1
    Protein Accession:
    Q8N2Q7
    Secondary Accessions:
    • Q9UPT2

    Protein attributes for NLGN1 Gene

    Size:
    840 amino acids
    Molecular mass:
    93835 Da
    Quaternary structure:
    • Interacts with NRXN1, NRXN2 and NRXN3. Interacts with NLGN3. Interacts with AIP1 and PDZRN3 (By similarity). Interacts (via its C-terminus) with DLG4/PSD-95 (via PDZ domain 3). Interacts with GOPC.
    SequenceCaution:
    • Sequence=BAA83022.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC11039.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for NLGN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NLGN1 Gene

Proteomics data for NLGN1 Gene at MOPED

Selected DME Specific Peptides for NLGN1 Gene

Post-translational modifications for NLGN1 Gene

  • Glycosylation at Asn 109, Asn 300, Asn 340, Asn 544, Ser 660, Thr 664, Ser 665, Thr 669, Ser 680, and Ser 683
  • Modification sites at PhosphoSitePlus

Other Protein References for NLGN1 Gene

Antibody Products

  • R&D Systems Antibodies for NLGN1 (Neuroligin 1/NLGN1)

Domains & Families for NLGN1 Gene

Protein Domains for NLGN1 Gene

Suggested Antigen Peptide Sequences for NLGN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N2Q7

UniProtKB/Swiss-Prot:

NLGN1_HUMAN :
  • Belongs to the type-B carboxylesterase/lipase family.
Family:
  • Belongs to the type-B carboxylesterase/lipase family.
genes like me logo Genes that share domains with NLGN1: view

No data available for Gene Families for NLGN1 Gene

Function for NLGN1 Gene

Molecular function for NLGN1 Gene

UniProtKB/Swiss-Prot Function:
Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and probably mediates its effects by recruiting and clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Required to maintain wakefulness quality and normal synchrony of cerebral cortex activity during wakefulness and sleep.

Enzyme Numbers (IUBMB) for NLGN1 Gene

Gene Ontology (GO) - Molecular Function for NLGN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042043 neurexin family protein binding IEA,ISS --
GO:0046983 protein dimerization activity ISS --
genes like me logo Genes that share ontologies with NLGN1: view
genes like me logo Genes that share phenotypes with NLGN1: view

Animal Models for NLGN1 Gene

MGI Knock Outs for NLGN1:

Animal Model Products

  • Taconic Biosciences Mouse Models for NLGN1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NLGN1 Gene

Localization for NLGN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLGN1 Gene

Cell membrane; Single-pass type I membrane protein. Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Note=Enriched in synaptic plasma membranes and clustered in synaptic clefts and postsynaptic densities. Detected at dendritic spines. Colocalized with DLG4/PSD-95 and GRIN1/NMDAR1 (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NLGN1 Gene COMPARTMENTS Subcellular localization image for NLGN1 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 3
extracellular 1

Gene Ontology (GO) - Cellular Components for NLGN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IEA,ISS --
GO:0009986 cell surface ISS --
GO:0017146 NMDA selective glutamate receptor complex IEA --
GO:0030425 dendrite ISS --
GO:0043198 dendritic shaft IEA --
genes like me logo Genes that share ontologies with NLGN1: view

Pathways & Interactions for NLGN1 Gene

SuperPathways for NLGN1 Gene

genes like me logo Genes that share pathways with NLGN1: view

Pathways by source for NLGN1 Gene

1 KEGG pathway for NLGN1 Gene

Gene Ontology (GO) - Biological Process for NLGN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002087 regulation of respiratory gaseous exchange by neurological system process IEA --
GO:0006605 protein targeting ISS --
GO:0007155 cell adhesion IEA --
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS --
GO:0007158 neuron cell-cell adhesion ISS,TAS 15797875
genes like me logo Genes that share ontologies with NLGN1: view

No data available for SIGNOR curated interactions for NLGN1 Gene

Drugs & Compounds for NLGN1 Gene

(1) Drugs for NLGN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with NLGN1: view

Transcripts for NLGN1 Gene

Unigene Clusters for NLGN1 Gene

Neuroligin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NLGN1 Gene

No ASD Table

Relevant External Links for NLGN1 Gene

GeneLoc Exon Structure for
NLGN1
ECgene alternative splicing isoforms for
NLGN1

Expression for NLGN1 Gene

mRNA expression in normal human tissues for NLGN1 Gene

Protein differential expression in normal tissues from HIPED for NLGN1 Gene

This gene is overexpressed in Brain (35.5), Fetal Brain (14.3), and Heart (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NLGN1 Gene



SOURCE GeneReport for Unigene cluster for NLGN1 Gene Hs.478289

mRNA Expression by UniProt/SwissProt for NLGN1 Gene

Q8N2Q7-NLGN1_HUMAN
Tissue specificity: Expressed in the blood vessel walls (at protein level). Detected in brain, and at lower levels in pancreas islet beta cells.
genes like me logo Genes that share expression patterns with NLGN1: view

Protein tissue co-expression partners for NLGN1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for NLGN1 Gene

Orthologs for NLGN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NLGN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NLGN1 35
  • 95.06 (n)
  • 98.66 (a)
NLGN1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NLGN1 35
  • 95.22 (n)
  • 98.91 (a)
NLGN1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nlgn1 35
  • 91.21 (n)
  • 98.06 (a)
Nlgn1 16
Nlgn1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NLGN1 35
  • 99.51 (n)
  • 99.88 (a)
NLGN1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nlgn1 35
  • 91.13 (n)
  • 98.18 (a)
oppossum
(Monodelphis domestica)
Mammalia NLGN1 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves NLGN1 35
  • 87 (n)
  • 95.26 (a)
NLGN1 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NLGN1 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nlgn1 35
  • 80.06 (n)
  • 89.73 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.18973 35
nlgn1 35
  • 73.91 (n)
  • 83.92 (a)
nlgn1 36
  • 87 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta alpha-Est2 37
  • 28 (a)
alpha-Est4 37
  • 28 (a)
alpha-Est5 37
  • 33 (a)
alpha-Est8 37
  • 28 (a)
CG10175 37
  • 30 (a)
CG10339 37
  • 29 (a)
CG3841 37
  • 29 (a)
CG4382 37
  • 27 (a)
CG5030 37
  • 40 (a)
CG5397 37
  • 26 (a)
CG6018 37
  • 30 (a)
CG6414 37
  • 30 (a)
CG7529 37
  • 27 (a)
CG9287 37
  • 27 (a)
CG9289 37
  • 27 (a)
clt 37
  • 30 (a)
Est-6 37
  • 30 (a)
Est-P 37
  • 30 (a)
Gli 37
  • 31 (a)
Jhe 37
  • 28 (a)
neuroligin 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea B0238.13 37
  • 31 (a)
B0238.7 37
  • 26 (a)
C52A10.1 37
  • 29 (a)
F07C4.12 37
  • 30 (a)
F13H6.3 37
  • 28 (a)
F13H6.4 37
  • 27 (a)
F15A8.6 37
  • 27 (a)
F55D10.3 37
  • 27 (a)
ges-1 37
  • 27 (a)
K11G9.1 37
  • 26 (a)
K11G9.2 37
  • 29 (a)
K11G9.3 37
  • 28 (a)
R173.3 37
  • 30 (a)
T07H6.1a 37
  • 26 (a)
T28C12.4a 37
  • 29 (a)
T28C12.4b 37
  • 29 (a)
Y71H2AM.13 37
  • 28 (a)
Species with no ortholog for NLGN1:
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 NLGN1 Gene

ENSEMBL:
Gene Tree for NLGN1 (if available)
TreeFam:
Gene Tree for NLGN1 (if available)

Paralogs for NLGN1 Gene

Paralogs for NLGN1 Gene

(10) SIMAP similar genes for NLGN1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with NLGN1: view

Variants for NLGN1 Gene

Sequence variations from dbSNP and Humsavar for NLGN1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs34255 -- 173,462,353(-) GCTAA(A/G)AAGTT intron-variant
rs34256 -- 173,461,940(-) TTTTC(A/T)TGGCT intron-variant
rs34257 -- 173,461,347(-) ATGGG(A/T)CTGGG intron-variant
rs720699 -- 173,749,691(-) GTATA(C/T)GTTAA intron-variant
rs721729 -- 173,471,483(-) GACAC(A/G)GAGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NLGN1 Gene

Variant ID Type Subtype PubMed ID
nsv7356 OTHER Inversion 18451855
dgv1537e1 CNV Complex 17122850
nsv4120 CNV Insertion 18451855
essv15193 CNV CNV 17122850
nsv10358 CNV Loss 18304495
dgv896e199 CNV Deletion 23128226
esv25261 CNV Loss 19812545
esv2421940 CNV Deletion 20811451
essv8020 CNV CNV 17122850
nsv442884 CNV CNV 18776908
nsv514188 CNV Loss 21397061
dgv628n27 CNV Gain 19166990
dgv5348n71 CNV Gain 21882294
dgv304n21 CNV Gain 19592680
esv2726215 CNV Deletion 23290073
esv259627 OTHER Complex 20981092
esv259834 OTHER Complex 20981092
nsv10359 CNV Gain 18304495
nsv877997 CNV Gain 21882294
nsv441850 CNV CNV 18776908
esv2678513 CNV Deletion 23128226
dgv629n27 CNV Gain 19166990
esv33113 CNV Gain 17666407
esv2726216 CNV Deletion 23290073
esv2329791 CNV Deletion 18987734
esv2726217 CNV Deletion 23290073
nsv238018 CNV Loss 16902084
esv2726219 CNV Deletion 23290073
esv2726220 CNV Deletion 23290073
nsv818192 CNV Gain 17921354
nsv829796 CNV Gain 17160897
dgv5349n71 CNV Loss 21882294
esv2726221 CNV Deletion 23290073
nsv471071 CNV Loss 18288195
esv989077 CNV Insertion 20482838
nsv236399 CNV Loss 16902084
nsv878001 CNV Loss 21882294
dgv305n21 CNV Gain 19592680
esv2726222 CNV Deletion 23290073
esv2658368 CNV Deletion 23128226
esv2665338 CNV Deletion 23128226
nsv4122 CNV Loss 18451855
nsv507137 CNV Insertion 20534489
esv2670121 CNV Deletion 23128226
nsv520908 CNV Loss 19592680
esv1219198 CNV Insertion 17803354
esv2678094 CNV Deletion 23128226
nsv4123 CNV Insertion 18451855
nsv461018 CNV Loss 19166990
esv1345007 CNV Insertion 17803354
esv1173402 CNV Insertion 17803354
nsv878002 CNV Gain 21882294
nsv878003 CNV Loss 21882294

Variation tolerance for NLGN1 Gene

Residual Variation Intolerance Score: 7.28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 29.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NLGN1 Gene

Human Gene Mutation Database (HGMD)
NLGN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLGN1 Gene

Disorders for NLGN1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NLGN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
corneal granular dystrophy
  • granular corneal dystrophy
corneal dystrophy, avellino type
  • granular corneal dystrophy type ii
seizure disorder
  • epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search NLGN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NLGN1

Genetic Association Database (GAD)
NLGN1
Human Genome Epidemiology (HuGE) Navigator
NLGN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NLGN1
genes like me logo Genes that share disorders with NLGN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NLGN1 Gene

Publications for NLGN1 Gene

  1. Genome-wide association study of major recurrent depression in the U.K. population. (PMID: 20516156) Lewis C.M. … McGuffin P. (Am J Psychiatry 2010) 3 48 67
  2. Neuroligin-1 performs neurexin-dependent and neurexin-independent functions in synapse validation. (PMID: 19730411) Ko J. … SA1dhof T.C. (EMBO J. 2009) 3 23
  3. Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism. (PMID: 15797875) Chubykin A.A. … SA1dhof T.C. (J. Biol. Chem. 2005) 3 23
  4. Analysis of four neuroligin genes as candidates for autism. (PMID: 16077734) Ylisaukko-oja T. … JAorvelAo I. (Eur. J. Hum. Genet. 2005) 3 23
  5. Characterization of the interaction of a recombinant soluble neuroligin-1 with neurexin-1beta. (PMID: 14522992) Comoletti D. … Taylor P. (J. Biol. Chem. 2003) 3 23

Products for NLGN1 Gene

Sources for NLGN1 Gene

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