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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.
Title: Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.
Variants in BSN gene associated with epilepsy with favourable outcome.
Title: Variants in BSN gene associated with epilepsy with favourable outcome.
No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington's disease.
Title: No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington's disease.
Bassoon inhibits proteasome activity via interaction with PSMB4.
Title: Bassoon inhibits proteasome activity via interaction with PSMB4.
Three missense mutations in BSN that are very rarely listed in databases of healthy subjects were found in four sporadic progressive supranuclear palsy cases. Western blot analysis of tau following the overexpression of wild-type or mutated BSN revealed the possibility that wild-type BSN reduced tau accumulation, while mutated BSN lost this function.
Title: Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome.
D-amino acid oxidase activity is inhibited by an interaction with bassoon protein at the presynaptic active zone.
Title: D-amino acid oxidase activity is inhibited by an interaction with bassoon protein at the presynaptic active zone.
Short-term synaptic depression is enhanced in Bassoon knockout mice, but synaptic transmission is unaffected.
Title: Bassoon speeds vesicle reloading at a central excitatory synapse.
Bassoon protein and the synaptic ribbon create a large number of release sites by organizing calcium channels and synaptic vesicles.
Title: Bassoon and the synaptic ribbon organize Ca²+ channels and vesicles to add release sites and promote refilling.
The effect of BSN-MST1 locus on Crohn's disease predisposition was replicated, but no influence on ulcerative colitis or multiple sclerosis predisposition could be detected
Title: Effect of BSN-MST1 locus on inflammatory bowel disease and multiple sclerosis susceptibility.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S2456 (e-PCR), detects polymorphism
- UniSTS:28741

G35047 (e-PCR)
- UniSTS:29046

D3S3133 (e-PCR)
- UniSTS:32183

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

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Preferred Names: protein bassoon

Names: neuronal double zinc finger protein; zinc finger protein 231

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.