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Stxbp1 syntaxin binding protein 1 [ Mus musculus (house mouse) ]

Gene ID: 20910, updated on 13-Jan-2025

Summary

Official Symbol
Stxbp1provided by MGI
Official Full Name
syntaxin binding protein 1provided by MGI
Primary source
MGI:MGI:107363
See related
Ensembl:ENSMUSG00000026797 AllianceGenome:MGI:107363
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
Also known as
Ms10g; nsec1; N-sec1; Sxtbp1; Unc18h; MMS10-G; Rb-sec1; Unc18-1; Munc-18a; Munc18-1
Summary
Enables syntaxin-1 binding activity. Involved in synaptic vesicle priming and vesicle docking involved in exocytosis. Acts upstream of or within several processes, including axon target recognition; chemical synaptic transmission; and negative regulation of synaptic transmission. Located in axon; phagocytic vesicle; and plasma membrane. Is active in several cellular components, including parallel fiber to Purkinje cell synapse; presynaptic active zone cytoplasmic component; and presynaptic cytosol. Is extrinsic component of presynaptic membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and sensory organ. Human ortholog(s) of this gene implicated in West syndrome and developmental and epileptic encephalopathy 4. Orthologous to human STXBP1 (syntaxin binding protein 1). [provided by Alliance of Genome Resources, Jan 2025]
Expression
Biased expression in cerebellum adult (RPKM 216.7), cortex adult (RPKM 165.3) and 6 other tissues See more
Orthologs
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Genomic context

See Stxbp1 in Genome Data Viewer
Location:
2 B; 2 22.09 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (32677619..32737249, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (32787607..32847237, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E411 Neighboring gene tetratricopeptide repeat domain 16 Neighboring gene torsin family 2, member A Neighboring gene STARR-positive B cell enhancer ABC_E10097 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:32633660-32633899 Neighboring gene cilia and flagella associated protein 157 Neighboring gene peptidyl-tRNA hydrolase 1 homolog Neighboring gene predicted gene, 24165 Neighboring gene predicted gene 13524 Neighboring gene STARR-seq mESC enhancer starr_04214 Neighboring gene predicted gene, 57701 Neighboring gene predicted gene 13523 Neighboring gene niban apoptosis regulator 2

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)
  • Endonuclease-mediated (3) 
  • Targeted (12)  1 citation

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables SNARE binding  
enables identical protein binding  
enables identical protein binding  
enables molecular adaptor activity  
enables phospholipase binding  
enables phospholipase binding  
enables protein binding PubMed 
enables protein domain specific binding  
enables protein domain specific binding  
enables protein kinase binding  
enables protein kinase binding  
enables syntaxin binding  
enables syntaxin-1 binding  
enables syntaxin-1 binding PubMed 
enables syntaxin-1 binding PubMed 
enables syntaxin-1 binding PubMed 
Items 1 - 25 of 48
Process Evidence Code Pubs
involved_in SNARE complex assembly  
involved_in SNARE complex assembly  
acts_upstream_of_or_within axon target recognition PubMed 
acts_upstream_of_or_within cellular response to type II interferon PubMed 
involved_in developmental process involved in reproduction  
involved_in developmental process involved in reproduction  
acts_upstream_of_or_within establishment of localization in cell PubMed 
acts_upstream_of_or_within exocytosis PubMed 
involved_in intracellular protein transport  
acts_upstream_of_or_within long-term synaptic depression PubMed 
acts_upstream_of_or_within negative regulation of neuron apoptotic process PubMed 
involved_in negative regulation of protein-containing complex assembly  
involved_in negative regulation of protein-containing complex assembly  
acts_upstream_of_or_within negative regulation of synaptic transmission, GABAergic PubMed 
acts_upstream_of_or_within neuromuscular synaptic transmission PubMed 
acts_upstream_of neuron apoptotic process PubMed 
acts_upstream_of_or_within neurotransmitter secretion PubMed 
involved_in platelet aggregation  
involved_in platelet aggregation  
involved_in platelet degranulation  
involved_in platelet degranulation  
acts_upstream_of_or_within positive regulation of calcium ion-dependent exocytosis PubMed 
involved_in positive regulation of exocytosis  
involved_in positive regulation of glutamate secretion, neurotransmission  
involved_in positive regulation of glutamate secretion, neurotransmission  
involved_in positive regulation of mast cell degranulation  
involved_in positive regulation of mast cell degranulation  
involved_in positive regulation of vesicle docking  
involved_in positive regulation of vesicle docking  
involved_in presynaptic dense core vesicle exocytosis  
involved_in protein localization to plasma membrane  
involved_in protein localization to plasma membrane  
acts_upstream_of_or_within protein stabilization  
involved_in protein transport  
involved_in regulation of acrosomal vesicle exocytosis  
involved_in regulation of acrosomal vesicle exocytosis  
involved_in regulation of synaptic vesicle priming  
involved_in regulation of synaptic vesicle priming  
involved_in regulation of vesicle fusion  
involved_in regulation of vesicle fusion  
involved_in response to estradiol  
involved_in synaptic vesicle fusion to presynaptic active zone membrane PubMed 
acts_upstream_of_or_within synaptic vesicle maturation PubMed 
involved_in synaptic vesicle priming PubMed 
involved_in synaptic vesicle priming PubMed 
involved_in vesicle docking involved in exocytosis  
acts_upstream_of_or_within vesicle docking involved in exocytosis PubMed 
involved_in vesicle docking involved in exocytosis PubMed 
Items 1 - 25 of 48
Items 1 - 20 of 31
Component Evidence Code Pubs
located_in axon PubMed 
located_in axon  
located_in cytoplasm  
located_in cytosol  
is_active_in extrinsic component of presynaptic membrane PubMed 
located_in extrinsic component of presynaptic membrane PubMed 
is_active_in extrinsic component of presynaptic membrane PubMed 
is_active_in glutamatergic synapse PubMed 
is_active_in glutamatergic synapse PubMed 
located_in mitochondrion PubMed 
located_in myelin sheath PubMed 
located_in nucleoplasm  
located_in nucleoplasm  
is_active_in parallel fiber to Purkinje cell synapse PubMed 
located_in perinuclear region of cytoplasm  
located_in perinuclear region of cytoplasm  
located_in phagocytic vesicle PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane  
located_in plasma membrane  
located_in platelet alpha granule  
located_in platelet alpha granule  
located_in postsynapse  
located_in postsynapse  
located_in presynapse  
is_active_in presynaptic active zone cytoplasmic component PubMed 
is_active_in presynaptic cytosol PubMed 
is_active_in presynaptic cytosol PubMed 
part_of protein-containing complex  
part_of protein-containing complex  
is_active_in secretory granule  
Items 1 - 20 of 31

General protein information

Preferred Names
syntaxin-binding protein 1
Names
UNC-18 homolog
minisatellite 10g detected by probe MMS10
protein unc-18 homolog 1
protein unc-18 homolog A
unc-18-1
unc-18A

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_001113569.1NP_001107041.1  syntaxin-binding protein 1 isoform a

    See identical proteins and their annotated locations for NP_001107041.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK004780, BB852672, BC031728
    Consensus CDS
    CCDS50572.1
    UniProtKB/Swiss-Prot
    O08599
    Related
    ENSMUSP00000089051.4, ENSMUST00000077458.7
    Conserved Domains (1) summary
    pfam00995
    Location:29575
    Sec1; Sec1 family
  2. NM_009295.2NP_033321.2  syntaxin-binding protein 1 isoform b

    See identical proteins and their annotated locations for NP_033321.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the coding region, (compared to variant 1), which results in a frameshift. The resulting isoform (b) has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AF326563, AK004780, BB852672, BC031728
    Consensus CDS
    CCDS15933.1
    UniProtKB/Swiss-Prot
    A2ARS2, A2ARS3, A2ARS4, O08599, Q5WAC6, Q8VD51
    Related
    ENSMUSP00000052440.10, ENSMUST00000050000.16
    Conserved Domains (1) summary
    pfam00995
    Location:29575
    Sec1; Sec1 family

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

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    32677619..32737249 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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