Bsn bassoon [Mus musculus (house mouse)] - Gene

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: human all
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Genomic context

Location:: 9 F1; 9 59.07 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Presynaptic Scaffold Protein Bassoon in Forebrain Excitatory Neurons Mediates Hippocampal Circuit Maturation: Potential Involvement of TrkB Signalling.
Title: The Presynaptic Scaffold Protein Bassoon in Forebrain Excitatory Neurons Mediates Hippocampal Circuit Maturation: Potential Involvement of TrkB Signalling.
Dopaminergic neurons establish a distinctive axonal arbor with a majority of non-synaptic terminals.
Title: Dopaminergic neurons establish a distinctive axonal arbor with a majority of non-synaptic terminals.
BSN (bassoon) and PRKN/parkin in concert control presynaptic vesicle autophagy.
Title: BSN (bassoon) and PRKN/parkin in concert control presynaptic vesicle autophagy.
Genetic disruption of bassoon in two mutant mouse lines causes divergent retinal phenotypes.
Title: Genetic disruption of bassoon in two mutant mouse lines causes divergent retinal phenotypes.
Parkin contributes to synaptic vesicle autophagy in Bassoon-deficient mice.
Title: Parkin contributes to synaptic vesicle autophagy in Bassoon-deficient mice.
Bassoon inhibits proteasome activity via interaction with PSMB4.
Title: Bassoon inhibits proteasome activity via interaction with PSMB4.
The expression of Bassoon in excitatory forebrain neurons is required for the normal maturation of the dentate gyrus and important for spatial and contextual memory.
Title: Ablation of the presynaptic organizer Bassoon in excitatory neurons retards dentate gyrus maturation and enhances learning performance.
Piccolo puncta sandwiched Bassoon puncta and aligned in a Piccolo-Bassoon-Piccolo structure in adult neuromuscular junctions (NMJs). P/Q-type voltage-gated calcium channel (VGCC) puncta colocalized with Bassoon puncta. The P/Q-type VGCC and Bassoon protein levels decreased significantly in NMJs from aged mouse. In contrast, the Piccolo levels in NMJs from aged mice were comparable to levels in adult mice.
Title: Dual-color STED microscopy reveals a sandwich structure of Bassoon and Piccolo in active zones of adult and aged mice.
These data establish Bassoon as a major regulator of the molecular composition of the presynaptic neurotransmitter release sites.
Title: Bassoon specifically controls presynaptic P/Q-type Ca(2+) channels via RIM-binding protein.
Authors conclude that bassoon promotes vesicular replenishment and, consequently, a large standing pool of readily releasable synaptic vesicles at the endbulb synapse.
Title: Bassoon-disruption slows vesicle replenishment and induces homeostatic plasticity at a CNS synapse.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

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

Gene trapped (1) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

25.mHAa8b1.seq (e-PCR)
- UniSTS:123709

D9Dcr107 (e-PCR), detects polymorphism
- UniSTS:499009

D9Dcr108 (e-PCR), detects polymorphism
- UniSTS:499010

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
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 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
acts_upstream_of_or_within maintenance of presynaptic active zone structure	IPI Inferred from Physical Interaction more info	PubMed
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
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
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 retrograde axonal transport	ISO Inferred from Sequence Orthology 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
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	ISO Inferred from Sequence Orthology more info
located_in Golgi-associated vesicle	ISO Inferred from Sequence Orthology more info
located_in Schaffer collateral - CA1 synapse	IC Inferred by Curator more info	PubMed
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 axon	IBA Inferred from Biological aspect of Ancestor more info
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 cortex	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
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
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	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

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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)

NM_007567.2 → NP_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

E9QMZ3, O88737, Q6ZQB5

Related

ENSMUSP00000035208.7, ENSMUST00000035208.14

Conserved Domains (8) summary

PHA03247
Location:3492 → 3906

PHA03247; large tegument protein UL36; Provisional

PHA03307
Location:1391 → 1625

PHA03307; transcriptional regulator ICP4; Provisional

PRK12323
Location:545 → 759

PRK12323; DNA polymerase III subunit gamma/tau

PRK14971
Location:193 → 347

PRK14971; DNA polymerase III subunit gamma/tau

cd15772
Location:462 → 525

FYVE2_BSN_PCLO; FYVE-related domain 2 found in protein bassoon and piccolo

cd15773
Location:162 → 225

FYVE1_BSN; FYVE-related domain 1 found in protein bassoon

pfam05109
Location:3035 → 3365

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

pfam17380
Location:2361 → 2432

DUF5401; Family of unknown function (DUF5401)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

107973221..108067618 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006511634.4 → XP_006511697.1 protein bassoon isoform X1

See identical proteins and their annotated locations for XP_006511697.1

UniProtKB/Swiss-Prot

E9QMZ3, O88737, Q6ZQB5

Conserved Domains (8) summary

PHA03247
Location:3492 → 3906

PHA03247; large tegument protein UL36; Provisional

PHA03307
Location:1391 → 1625

PHA03307; transcriptional regulator ICP4; Provisional

PRK12323
Location:545 → 759

PRK12323; DNA polymerase III subunit gamma/tau

PRK14971
Location:193 → 347

PRK14971; DNA polymerase III subunit gamma/tau

cd15772
Location:462 → 525

FYVE2_BSN_PCLO; FYVE-related domain 2 found in protein bassoon and piccolo

cd15773
Location:162 → 225

FYVE1_BSN; FYVE-related domain 1 found in protein bassoon

pfam05109
Location:3035 → 3365

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

pfam17380
Location:2361 → 2432

DUF5401; Family of unknown function (DUF5401)