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

    Gene ID: 8927, updated on 27-Nov-2024

    Summary

    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; AllianceGenome:HGNC:1117
    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]
    Expression
    Biased expression in brain (RPKM 13.0), testis (RPKM 2.3) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See BSN in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49554477..49673130)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49583475..49700809)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49591910..49708982)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14366 Neighboring gene dystroglycan 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49572171-49573169 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49574689-49575189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14369 Neighboring gene BSN divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49675623-49676124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49676125-49676624 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49682435-49682618 Neighboring gene Sharpr-MPRA regulatory region 2684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49723317-49724030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49724031-49724744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49726261-49726820 Neighboring gene acylaminoacyl-peptide hydrolase Neighboring gene Sharpr-MPRA regulatory region 3541 Neighboring gene ring finger protein 123 Neighboring gene macrophage stimulating 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49754537-49755037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49756083-49756890 Neighboring gene adhesion molecule with Ig like domain 3

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables structural constituent of presynaptic active zone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in maintenance of presynaptic active zone structure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in modulation of chemical synaptic transmission ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in presynaptic active zone assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of synaptic vesicle cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic vesicle clustering IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cochlear hair cell ribbon synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoskeleton of presynaptic active zone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoskeleton of presynaptic active zone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoskeleton of presynaptic active zone TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in excitatory synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in glutamatergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neuron projection terminus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynaptic active zone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein bassoon
    Names
    neuronal double zinc finger protein
    zinc finger protein 231

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4989..122061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003458.4NP_003449.2  protein bassoon

      See identical proteins and their annotated locations for NP_003449.2

      Status: REVIEWED

      Source sequence(s)
      AB007894, AC099668, AC104452, AF052224, AW131629
      Consensus CDS
      CCDS2800.1
      UniProtKB/Swiss-Prot
      O43161, Q7LGH3, Q9UPA5
      Related
      ENSP00000296452.4, ENST00000296452.5
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      49554477..49673130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449150.1XP_047305106.1  protein bassoon isoform X1

      UniProtKB/Swiss-Prot
      O43161, Q7LGH3, Q9UPA5
    2. XM_047449149.1XP_047305105.1  protein bassoon isoform X1

      UniProtKB/Swiss-Prot
      O43161, Q7LGH3, Q9UPA5
    3. XM_047449152.1XP_047305108.1  protein bassoon isoform X2

    4. XM_047449151.1XP_047305107.1  protein bassoon isoform X1

      UniProtKB/Swiss-Prot
      O43161, Q7LGH3, Q9UPA5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      49583475..49700809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348283.1XP_054204258.1  protein bassoon isoform X1