Format

Send to:

Choose Destination

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

Gene ID: 8927, updated on 4-Jun-2020

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
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

Genomic context

See BSN in Genome Data Viewer
Location:
3p21.31
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (49554477..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 divergent transcript Neighboring gene acylaminoacyl-peptide hydrolase Neighboring gene ring finger protein 123 Neighboring gene macrophage stimulating 1 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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
structural constituent of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
maintenance of presynaptic active zone structure IEA
Inferred from Electronic Annotation
more info
 
presynapse to nucleus signaling pathway IEA
Inferred from Electronic Annotation
more info
 
presynaptic active zone assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of synaptic vesicle cycle IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GABA-ergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
glutamatergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection terminus IEA
Inferred from Electronic Annotation
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
presynaptic active zone ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
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)

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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    49554477..49671549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center