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    NRXN1 neurexin 1 [ Homo sapiens (human) ]

    Gene ID: 9378, updated on 14-Jun-2018
    Official Symbol
    NRXN1provided by HGNC
    Official Full Name
    neurexin 1provided by HGNC
    Primary source
    HGNC:HGNC:8008
    See related
    Ensembl:ENSG00000179915 MIM:600565; Vega:OTTHUMG00000129263
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PTHSL2; SCZD17; Hs.22998
    Summary
    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 complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]
    Expression
    Biased expression in brain (RPKM 12.7) and testis (RPKM 0.6) See more
    Orthologs
    See NRXN1 in Genome Data Viewer
    Location:
    2p16.3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (49918505..51032536, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (50145643..51259674, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374595 Neighboring gene ribosomal protein L7 pseudogene 13 Neighboring gene VISTA enhancer hs1348 Neighboring gene uncharacterized LOC101927089 Neighboring gene MT-CO1 pseudogene 42 Neighboring gene microRNA 8485 Neighboring gene uncharacterized LOC730100 Neighboring gene uncharacterized LOC105377627 Neighboring gene lysine rich nucleolar protein 1 pseudogene 3

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Pitt-Hopkins-like syndrome 2
    MedGen: C3280479 OMIM: 614325 GeneReviews: Not available
    Compare labs
    Schizophrenia 17
    MedGen: C3280524 OMIM: 614332 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-05-17)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-17)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of behavioral disinhibition.
    NHGRI GWA Catalog
    A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.
    NHGRI GWA Catalog
    A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
    NHGRI GWA Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    NHGRI GWA Catalog
    Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
    NHGRI GWA Catalog
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    NHGRI GWA Catalog
    Joint influence of small-effect genetic variants on human longevity.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of neurexin 1 (NRXN1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Interactions of neurexins and neuroligins at synapses, organism-specific biosystem (from REACTOME)
      Interactions of neurexins and neuroligins at synapses, organism-specific biosystemNeurexins (NRXNs) and neuroligins (NLGNs) are best characterized synaptic cell-adhesion molecules. They are part of excitatory glutamatergic and inhibitory GABAergic synapses in mammalian brain, medi...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Non-integrin membrane-ECM interactions, organism-specific biosystem (from REACTOME)
      Non-integrin membrane-ECM interactions, organism-specific biosystemSeveral non-integrin membrane proteins interact with extracellular matrix proteins. Transmembrane proteoglycans may associate with integrins and growth factor receptors to influence their function, o...
    • Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
      Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ35941, KIAA0578, DKFZp313P2036

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acetylcholine receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell adhesion molecule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuroligin family protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    adult behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    axon guidance TAS
    Traceable Author Statement
    more info
    PubMed 
    chemical synaptic transmission ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    gephyrin clustering involved in postsynaptic density assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuroligin clustering involved in postsynaptic membrane assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT neuromuscular process controlling balance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuromuscular process controlling balance ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    neuron cell-cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of synapse maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of synaptic transmission, glutamatergic ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    postsynaptic density protein 95 clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    postsynaptic membrane assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    prepulse inhibition IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of grooming behavior IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of insulin secretion involved in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    social behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synaptic membrane adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    vocal learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vocalization behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nuclear membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    presynaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    neurexin-1
    Names
    neurexin I

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011878.1 RefSeqGene

      Range
      5001..1119032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135659.2NP_001129131.1  neurexin-1 isoform alpha2 precursor

      See identical proteins and their annotated locations for NP_001129131.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha2) results from the use of the 5'-most promoter, referred to as alpha. It represents the longest transcript that encodes the longest isoform (alpha2) of the representative RefSeq variants. This isoform contains EGF-like, several laminin G, and syndecan domains.
      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
      Consensus CDS
      CCDS46282.1
      UniProtKB/Swiss-Prot
      Q9ULB1
      Related
      ENSP00000385142.1, OTTHUMP00000200525, ENST00000404971.5, OTTHUMT00000323894
      Conserved Domains (6) summary
      smart00294
      Location:14921510
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:543692
      LamG; Laminin G domain
      cd00054
      Location:720753
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14721511
      Syndecan; Syndecan domain
      pfam02210
      Location:9731101
      Laminin_G_2; Laminin G domain
    2. NM_001320156.3NP_001307085.1  neurexin-1 isoform gamma1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma1) results from the use of an alternate promoter, referred to as gamma. It contains an alternate 5' terminal exon and lacks all the exons, except the last two 3' terminal exons, compared to variant alpha2. Hence, the encoded isoform (gamma1) is considerably shorter with a distinct N-terminus lacking the EGF-like and laminin G domains, and containing only the syndecan domain compared to isoform alpha2.
      Source sequence(s)
      AC078994
      Consensus CDS
      CCDS82444.1
      UniProtKB/TrEMBL
      H7BYC7
      Related
      ENSP00000367510.4, OTTHUMP00000201216, ENST00000378262.7, OTTHUMT00000325296
      Conserved Domains (2) summary
      smart00294
      Location:87105
      4.1m; putative band 4.1 homologues' binding motif
      pfam01034
      Location:67106
      Syndecan; Syndecan domain
    3. NM_001320157.3NP_001307086.1  neurexin-1 isoform gamma2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma2) results from the use of an alternate promoter, referred to as gamma. It contains an alternate 5' terminal exon and lacks all the exons, except the last two 3' terminal exons (the penultimate exon uses an alternate in-frame donor splice site), compared to variant alpha2. Hence, the encoded isoform (gamma2) is considerably shorter with a distinct N-terminus lacking the EGF-like and laminin G domains, and containing only the syndecan domain compared to isoform alpha2.
      Source sequence(s)
      AC078994
      Consensus CDS
      CCDS82445.1
      UniProtKB/TrEMBL
      H0Y568
      Related
      ENSP00000396738.2, OTTHUMP00000278397, ENST00000412315.5, OTTHUMT00000323984
      Conserved Domains (2) summary
      smart00294
      Location:84102
      4.1m; putative band 4.1 homologues' binding motif
      pfam01034
      Location:64103
      Syndecan; Syndecan domain
    4. NM_001330077.1NP_001317006.1  neurexin-1 isoform alpha3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
      Consensus CDS
      CCDS82449.1
      UniProtKB/TrEMBL
      A0A1D5RMU6
      Related
      ENSP00000486879.1, ENST00000630543.2
      Conserved Domains (6) summary
      smart00294
      Location:14441462
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:495644
      LamG; Laminin G domain
      cd00054
      Location:672705
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14241463
      Syndecan; Syndecan domain
      pfam02210
      Location:9251053
      Laminin_G_2; Laminin G domain
    5. NM_001330078.1NP_001317007.1  neurexin-1 isoform alpha4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
      Consensus CDS
      CCDS82451.1
      UniProtKB/TrEMBL
      E7ERL8
      Related
      ENSP00000385017.2, ENST00000401669.6
      Conserved Domains (6) summary
      smart00294
      Location:14521470
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:503652
      LamG; Laminin G domain
      cd00054
      Location:680713
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14321471
      Syndecan; Syndecan domain
      pfam02210
      Location:9331061
      Laminin_G_2; Laminin G domain
    6. NM_001330079.1NP_001317008.1  neurexin-1 isoform 6 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks multiple 3' coding exons and contains an alternate 3' terminal exon compared to variant alpha2. The encoded isoform (6) is much shorter than isoform alpha2.
      Source sequence(s)
      AC007682
      Consensus CDS
      CCDS86838.1
      UniProtKB/TrEMBL
      A0A0D9SEQ7
      Related
      ENSP00000485912.1, ENST00000626899.1
      Conserved Domains (1) summary
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    7. NM_001330081.1NP_001317010.1  neurexin-1 isoform 7 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks multiple 3' coding exons and contains an alternate 3' terminal exon compared to variant alpha2. The encoded isoform (7) is much shorter than isoform alpha2.
      Source sequence(s)
      AC007682
      Consensus CDS
      CCDS86840.1
      UniProtKB/TrEMBL
      E7EQN4
      Related
      ENSP00000385310.1, ENST00000405581.3
      Conserved Domains (1) summary
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    8. NM_001330082.1NP_001317011.1  neurexin-1 isoform alpha5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
      Consensus CDS
      CCDS82450.1
      UniProtKB/TrEMBL
      A0A0D9SEP4
      Related
      ENSP00000485887.1, ENST00000625672.2
      Conserved Domains (6) summary
      smart00294
      Location:14411459
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:495644
      LamG; Laminin G domain
      cd00054
      Location:672705
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14211460
      Syndecan; Syndecan domain
      pfam02210
      Location:9251053
      Laminin_G_2; Laminin G domain
    9. NM_001330083.1NP_001317012.1  neurexin-1 isoform alpha6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
    10. NM_001330084.1NP_001317013.1  neurexin-1 isoform alpha7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
    11. NM_001330085.1NP_001317014.1  neurexin-1 isoform alpha8 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
    12. NM_001330086.1NP_001317015.1  neurexin-1 isoform alpha9 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
    13. NM_001330087.1NP_001317016.1  neurexin-1 isoform alpha10 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
    14. NM_001330088.1NP_001317017.1  neurexin-1 isoform alpha11 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
    15. NM_001330089.1NP_001317018.1  neurexin-1 isoform 8 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks multiple 3' coding exons and contains an alternate 3' exon structure compared to variant alpha2. The encoded isoform (8) is much shorter than isoform alpha2 and has a distinct C-terminus.
      Source sequence(s)
      AC007682, BX113737
    16. NM_001330090.1NP_001317019.1  neurexin-1 isoform 9 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks multiple 3' coding exons and contains an alternate 3' terminal exon compared to variant alpha2. The encoded isoform (9) is much shorter than isoform alpha2 and has a distinct C-terminus.
      Source sequence(s)
      AC007682
      Related
      ENSP00000490494.1, ENST00000637511.1
    17. NM_001330091.1NP_001317020.1  neurexin-1 isoform beta2

      Status: REVIEWED

      Source sequence(s)
      AC068725, AC069550, AC078994
      Consensus CDS
      CCDS82447.1
      UniProtKB/TrEMBL
      A0A0D9SEM5
      Related
      ENSP00000485815.1, ENST00000628364.2
    18. NM_001330092.1NP_001317021.1  neurexin-1 isoform beta3

      Status: REVIEWED

      Source sequence(s)
      AC068725, AC069550, AC078994
      Consensus CDS
      CCDS82446.1
      UniProtKB/Swiss-Prot
      P58400
      Related
      ENSP00000385580.2, ENST00000401710.5
      Conserved Domains (3) summary
      smart00294
      Location:417435
      4.1m; putative band 4.1 homologues' binding motif
      cd00110
      Location:90209
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:397436
      Syndecan; Syndecan domain
    19. NM_001330093.1NP_001317022.1  neurexin-1 isoform alpha12 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
    20. NM_001330094.1NP_001317023.1  neurexin-1 isoform alpha13 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
    21. NM_001330095.1NP_001317024.1  neurexin-1 isoform alpha14 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
    22. NM_001330096.1NP_001317025.1  neurexin-1 isoform alpha15 precursor

      Status: REVIEWED

      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
    23. NM_001330097.1NP_001317026.1  neurexin-1 isoform beta4

      Status: REVIEWED

      Source sequence(s)
      AC068725, AC069550, AC078994
    24. NM_004801.5NP_004792.1  neurexin-1 isoform alpha1 precursor

      See identical proteins and their annotated locations for NP_004792.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha1) results from the use of the 5'-most promoter, referred to as alpha. It lacks two in-frame exons and uses an alternate in-frame donor splice site at an internal exon compared to variant alpha2. The resulting isoform (alpha1) is shorter missing a few internal protein segments compared to isoform alpha2. This isoform contains EGF-like, several laminin G, and syndecan domains.
      Source sequence(s)
      AC007462, AC007682, AC009234, AC068725, AC069550, AC078994
      Consensus CDS
      CCDS54360.1
      UniProtKB/Swiss-Prot
      Q9ULB1
      Related
      ENSP00000384311.2, OTTHUMP00000201211, ENST00000406316.6, OTTHUMT00000325291
      Conserved Domains (6) summary
      smart00294
      Location:14221440
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:503652
      LamG; Laminin G domain
      cd00054
      Location:680713
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14021441
      Syndecan; Syndecan domain
      pfam02210
      Location:9331061
      Laminin_G_2; Laminin G domain
    25. NM_138735.4NP_620072.1  neurexin-1 isoform beta1

      See identical proteins and their annotated locations for NP_620072.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta1) results from the use of an alternate promoter, referred to as beta. It contains an alternate 5' terminal exon and lacks most of the 5' exons and another exon in the 3' region compared to variant alpha2. The resulting isoform (beta1) is shorter with a distinct N-terminus lacking the EGF-like domain and containing fewer laminin G domains compared to isoform alpha2.
      Source sequence(s)
      AC068725, AC069550, AC078994
      Consensus CDS
      CCDS1845.1
      UniProtKB/Swiss-Prot
      P58400
      Related
      ENSP00000341184.5, OTTHUMP00000159578, ENST00000342183.9, OTTHUMT00000251372
      Conserved Domains (3) summary
      smart00294
      Location:387405
      4.1m; putative band 4.1 homologues' binding motif
      pfam01034
      Location:367406
      Syndecan; Syndecan domain
      pfam02210
      Location:121239
      Laminin_G_2; Laminin G domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      49918505..51032536 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005327.2XP_016860816.1  neurexin-1 isoform X27

    2. XM_017005325.2XP_016860814.1  neurexin-1 isoform X25

    3. XM_006712137.4XP_006712200.1  neurexin-1 isoform X23

      Conserved Domains (6) summary
      smart00294
      Location:14261444
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:510659
      LamG; Laminin G domain
      cd00054
      Location:687720
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14061445
      Syndecan; Syndecan domain
      pfam02210
      Location:9401068
      Laminin_G_2; Laminin G domain
    4. XM_017005322.2XP_016860811.1  neurexin-1 isoform X20

    5. XM_017005303.2XP_016860792.1  neurexin-1 isoform X1

    6. XM_017005314.2XP_016860803.1  neurexin-1 isoform X13

    7. XM_017005310.2XP_016860799.1  neurexin-1 isoform X9

    8. XM_011533178.3XP_011531480.1  neurexin-1 isoform X22

      Conserved Domains (6) summary
      smart00294
      Location:14291447
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:489638
      LamG; Laminin G domain
      cd00054
      Location:666699
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14091448
      Syndecan; Syndecan domain
      pfam02210
      Location:9101038
      Laminin_G_2; Laminin G domain
    9. XM_017005316.2XP_016860805.1  neurexin-1 isoform X14

    10. XM_017005326.2XP_016860815.1  neurexin-1 isoform X26

    11. XM_017005307.2XP_016860796.1  neurexin-1 isoform X5

    12. XM_017005304.2XP_016860793.1  neurexin-1 isoform X2

    13. XM_011533175.3XP_011531477.1  neurexin-1 isoform X17

      UniProtKB/TrEMBL
      A0A0R4J2G7
      Related
      ENSP00000434015.2, OTTHUMP00000228853, ENST00000405472.7
      Conserved Domains (6) summary
      smart00294
      Location:14401458
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:491640
      LamG; Laminin G domain
      cd00054
      Location:668701
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14201459
      Syndecan; Syndecan domain
      pfam02210
      Location:9211049
      Laminin_G_2; Laminin G domain
    14. XM_017005306.2XP_016860795.1  neurexin-1 isoform X4

    15. XM_017005318.2XP_016860807.1  neurexin-1 isoform X16

    16. XM_017005311.2XP_016860800.1  neurexin-1 isoform X11

    17. XM_017005320.2XP_016860809.1  neurexin-1 isoform X18

    18. XM_017005308.2XP_016860797.1  neurexin-1 isoform X6

    19. XM_017005324.2XP_016860813.1  neurexin-1 isoform X24

    20. XM_017005315.2XP_016860804.1  neurexin-1 isoform X15

    21. XM_011533172.3XP_011531474.1  neurexin-1 isoform X12

      Conserved Domains (6) summary
      smart00294
      Location:14501468
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:510659
      LamG; Laminin G domain
      cd00054
      Location:687720
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14301469
      Syndecan; Syndecan domain
      pfam02210
      Location:9311059
      Laminin_G_2; Laminin G domain
    22. XM_017005309.2XP_016860798.1  neurexin-1 isoform X8

    23. XM_011533177.3XP_011531479.1  neurexin-1 isoform X21

      Conserved Domains (6) summary
      smart00294
      Location:14291447
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:510659
      LamG; Laminin G domain
      cd00054
      Location:687720
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14091448
      Syndecan; Syndecan domain
      pfam02210
      Location:9401068
      Laminin_G_2; Laminin G domain
    24. XM_005264642.4XP_005264699.1  neurexin-1 isoform X10

      Conserved Domains (6) summary
      smart00294
      Location:14561474
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:510659
      LamG; Laminin G domain
      cd00054
      Location:687720
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14361475
      Syndecan; Syndecan domain
      pfam02210
      Location:9401068
      Laminin_G_2; Laminin G domain
    25. XM_011533167.3XP_011531469.1  neurexin-1 isoform X7

      Conserved Domains (6) summary
      smart00294
      Location:14591477
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:510659
      LamG; Laminin G domain
      cd00054
      Location:687720
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:14391478
      Syndecan; Syndecan domain
      pfam02210
      Location:9401068
      Laminin_G_2; Laminin G domain
    26. XM_017005321.2XP_016860810.1  neurexin-1 isoform X19

    27. XM_017005305.2XP_016860794.1  neurexin-1 isoform X3

    28. XM_011533183.2XP_011531485.1  neurexin-1 isoform X31

      Conserved Domains (5) summary
      smart00294
      Location:11701188
      4.1m; putative band 4.1 homologues' binding motif
      smart00282
      Location:230379
      LamG; Laminin G domain
      cd00054
      Location:407440
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam01034
      Location:11501189
      Syndecan; Syndecan domain
      pfam02210
      Location:651779
      Laminin_G_2; Laminin G domain
    29. XM_017005334.2XP_016860823.1  neurexin-1 isoform X32

    30. XM_017005329.2XP_016860818.1  neurexin-1 isoform X28

    31. XM_011533180.3XP_011531482.1  neurexin-1 isoform X29

      Conserved Domains (4) summary
      smart00282
      Location:510659
      LamG; Laminin G domain
      cd00054
      Location:687720
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam02210
      Location:9401068
      Laminin_G_2; Laminin G domain
    32. XM_006712140.4XP_006712203.2  neurexin-1 isoform X30

    33. XM_024453246.1XP_024309014.1  neurexin-1 isoform X35

      Conserved Domains (2) summary
      smart00282
      Location:307424
      LamG; Laminin G domain
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    34. XM_024453245.1XP_024309013.1  neurexin-1 isoform X34

      Conserved Domains (2) summary
      smart00282
      Location:307432
      LamG; Laminin G domain
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    35. XM_024453244.1XP_024309012.1  neurexin-1 isoform X33

      Conserved Domains (2) summary
      smart00282
      Location:307439
      LamG; Laminin G domain
      cd00110
      Location:30190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
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