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    BSN bassoon presynaptic cytomatrix protein [ Homo sapiens (human) ]

    Gene ID: 8927, updated on 9-Jul-2017
    Official Symbol
    BSNprovided by HGNC
    Official Full Name
    bassoon presynaptic cytomatrix proteinprovided by HGNC
    Primary source
    HGNC:HGNC:1117
    See related
    Ensembl:ENSG00000164061 MIM:604020; Vega:OTTHUMG00000133750
    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
    ZNF231
    Summary
    Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    3p21.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (49554489..49671549)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49591922..49708982)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene dystroglycan 1 Neighboring gene BSN antisense RNA 2 (head to head) Neighboring gene acylaminoacyl-peptide hydrolase Neighboring gene ring finger protein 123 Neighboring gene macrophage stimulating 1

    • 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?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.
    NHGRI GWA Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    NHGRI GWA Catalog
    Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    NHGRI GWA Catalog
    Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    presynapse to nucleus signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to synapse IEA
    Inferred from Electronic Annotation
    more info
     
    synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton of presynaptic active zone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoskeleton of presynaptic active zone TAS
    Traceable Author Statement
    more info
    PubMed 
    dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    excitatory synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron projection terminus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    postsynaptic density of dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    presynaptic active zone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    protein bassoon
    Names
    neuronal double zinc finger protein
    zinc finger protein 231

    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_015892.1 RefSeqGene

      Range
      5001..122061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003458.3NP_003449.2  protein bassoon

      See identical proteins and their annotated locations for NP_003449.2

      Status: REVIEWED

      Source sequence(s)
      AB007894, AC099668, AF052224, AW131629
      Consensus CDS
      CCDS2800.1
      UniProtKB/Swiss-Prot
      Q9UPA5
      Related
      ENSP00000296452.4, OTTHUMP00000165198, ENST00000296452.4, OTTHUMT00000258164
      Conserved Domains (2) summary
      cd15773
      Location:165228
      FYVE1_BSN; FYVE-related domain 1 found in protein bassoon
      cl22851
      Location:462526
      PHD_SF; PHD finger superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      49554489..49671549
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      49544319..49661041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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