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Bsn bassoon [ Mus musculus (house mouse) ]

Gene ID: 12217, updated on 8-Jan-2023

Summary

Official Symbol
Bsnprovided by MGI
Official Full Name
bassoonprovided by MGI
Primary source
MGI:MGI:1277955
See related
Ensembl:ENSMUSG00000032589 AllianceGenome:MGI:1277955
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
A structural constituent of presynaptic active zone. Involved in presynapse to nucleus signaling pathway; protein localization to synapse; and regulation of synaptic vesicle cycle. Located in several cellular components, including glutamatergic synapse; postsynaptic density; and presynaptic active zone cytoplasmic component. Is active in GABA-ergic synapse and Schaffer collateral - CA1 synapse. Is expressed in nervous system and retina. Used to study epilepsy. Orthologous to human BSN (bassoon presynaptic cytomatrix protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in cortex adult (RPKM 15.2), frontal lobe adult (RPKM 14.2) and 16 other tissues See more
Orthologs
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Genomic context

See Bsn in Genome Data Viewer
Location:
9 F1; 9 59.07 cM
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (107973221..108067618, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (108096022..108190419, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene microRNA 7088 Neighboring gene macrophage stimulating 1 (hepatocyte growth factor-like) Neighboring gene acylpeptide hydrolase Neighboring gene RIKEN cDNA 4930447F24 gene Neighboring gene glycine cleavage system protein H (aminomethyl carrier) pseudogene Neighboring gene dystroglycan 1 Neighboring gene nicolin 1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables dynein light chain binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables structural constituent of presynaptic active zone IDA
Inferred from Direct Assay
more info
PubMed 
enables structural constituent of presynaptic active zone IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables structural constituent of presynaptic active zone IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription corepressor binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in axo-dendritic transport ISO
Inferred from Sequence Orthology
more info
 
involved_in presynapse to nucleus signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in presynaptic active zone assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in presynaptic active zone assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein localization to synapse IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of synaptic vesicle cycle IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of synaptic vesicle cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of ubiquitin protein ligase activity ISO
Inferred from Sequence Orthology
more info
 
involved_in retrograde axonal transport ISO
Inferred from Sequence Orthology
more info
 
involved_in synapse assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in synapse organization ISO
Inferred from Sequence Orthology
more info
 
involved_in synaptic vesicle clustering IDA
Inferred from Direct Assay
more info
PubMed 
involved_in synaptic vesicle clustering IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in GABA-ergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in GABA-ergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in GABA-ergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in GABA-ergic synapse IPI
Inferred from Physical Interaction
more info
PubMed 
is_active_in GABA-ergic synapse ISO
Inferred from Sequence Orthology
more info
 
located_in Golgi-associated vesicle ISO
Inferred from Sequence Orthology
more info
 
is_active_in Schaffer collateral - CA1 synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in Schaffer collateral - CA1 synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in Schaffer collateral - CA1 synapse IPI
Inferred from Physical Interaction
more info
PubMed 
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in axon IDA
Inferred from Direct Assay
more info
PubMed 
located_in axon cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cochlear hair cell ribbon synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cochlear hair cell ribbon synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoskeleton of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoskeleton of presynaptic active zone ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in dendrite IDA
Inferred from Direct Assay
more info
PubMed 
located_in excitatory synapse ISO
Inferred from Sequence Orthology
more info
 
located_in extrinsic component of membrane ISO
Inferred from Sequence Orthology
more info
PubMed 
is_active_in glutamatergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in glutamatergic synapse IPI
Inferred from Physical Interaction
more info
PubMed 
is_active_in glutamatergic synapse ISO
Inferred from Sequence Orthology
more info
 
is_active_in hippocampal mossy fiber to CA3 synapse ISO
Inferred from Sequence Orthology
more info
 
located_in inhibitory synapse ISO
Inferred from Sequence Orthology
more info
 
NOT located_in membrane ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in neuron projection terminus IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
located_in piccolo-bassoon transport vesicle ISO
Inferred from Sequence Orthology
more info
 
located_in postsynaptic density IDA
Inferred from Direct Assay
more info
PubMed 
located_in presynapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in presynaptic active zone IDA
Inferred from Direct Assay
more info
PubMed 
located_in presynaptic active zone ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in presynaptic active zone cytoplasmic component IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in presynaptic active zone cytoplasmic component ISO
Inferred from Sequence Orthology
more info
 
located_in ribbon synapse ISO
Inferred from Sequence Orthology
more info
 
located_in synapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse ISO
Inferred from Sequence Orthology
more info
PubMed 
colocalizes_with synaptic membrane ISO
Inferred from Sequence Orthology
more info
 
located_in synaptic vesicle ISO
Inferred from Sequence Orthology
more info
 
located_in trans-Golgi network ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
protein bassoon
Names
presynaptic cytomatrix protein

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_007567.2NP_031593.2  protein bassoon

    See identical proteins and their annotated locations for NP_031593.2

    Status: VALIDATED

    Source sequence(s)
    AC137678, AI836567, AK129141, AK135719, BY742476
    Consensus CDS
    CCDS23517.1
    UniProtKB/Swiss-Prot
    O88737, Q6ZQB5
    UniProtKB/TrEMBL
    Q3UXD6
    Related
    ENSMUSP00000035208.7, ENSMUST00000035208.14
    Conserved Domains (8) summary
    PHA03247
    Location:34923906
    PHA03247; large tegument protein UL36; Provisional
    PHA03307
    Location:13911625
    PHA03307; transcriptional regulator ICP4; Provisional
    PRK12323
    Location:545759
    PRK12323; DNA polymerase III subunit gamma/tau
    PRK14971
    Location:193347
    PRK14971; DNA polymerase III subunit gamma/tau
    cd15772
    Location:462525
    FYVE2_BSN_PCLO; FYVE-related domain 2 found in protein bassoon and piccolo
    cd15773
    Location:162225
    FYVE1_BSN; FYVE-related domain 1 found in protein bassoon
    pfam05109
    Location:30353365
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam17380
    Location:23612432
    DUF5401; Family of unknown function (DUF5401)

RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    107973221..108067618 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006511634.4XP_006511697.1  protein bassoon isoform X1

    See identical proteins and their annotated locations for XP_006511697.1

    UniProtKB/Swiss-Prot
    O88737, Q6ZQB5
    Conserved Domains (8) summary
    PHA03247
    Location:34923906
    PHA03247; large tegument protein UL36; Provisional
    PHA03307
    Location:13911625
    PHA03307; transcriptional regulator ICP4; Provisional
    PRK12323
    Location:545759
    PRK12323; DNA polymerase III subunit gamma/tau
    PRK14971
    Location:193347
    PRK14971; DNA polymerase III subunit gamma/tau
    cd15772
    Location:462525
    FYVE2_BSN_PCLO; FYVE-related domain 2 found in protein bassoon and piccolo
    cd15773
    Location:162225
    FYVE1_BSN; FYVE-related domain 1 found in protein bassoon
    pfam05109
    Location:30353365
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam17380
    Location:23612432
    DUF5401; Family of unknown function (DUF5401)