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

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 presynaptic dense core vesicle exocytosis and synaptic vesicle priming. Acts upstream of or within several processes, including axon target recognition; chemical synaptic transmission; and negative regulation of synaptic transmission. Located in several cellular components, including glutamatergic synapse; phagocytic vesicle; and presynaptic active zone 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, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 216.7), cortex adult (RPKM 165.3) and 6 other tissues See more
Orthologs: human all
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Genomic context

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_000068.8 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?

GABAergic/Glycinergic and Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes of STXBP1 Encephalopathy.
Title: GABAergic/Glycinergic and Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes of STXBP1 Encephalopathy.
The DDHD2-STXBP1 interaction mediates long-term memory via generation of saturated free fatty acids.
Title: The DDHD2-STXBP1 interaction mediates long-term memory via generation of saturated free fatty acids.
KCNH6 channel promotes insulin exocytosis via interaction with Munc18-1 independent of electrophysiological processes.
Title: KCNH6 channel promotes insulin exocytosis via interaction with Munc18-1 independent of electrophysiological processes.
Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability.
Title: Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability.
Myosin Va, a Novel Interaction Partner of STXBP1, Is Required to Transport Syntaxin1A to the Plasma Membrane.
Title: Myosin Va, a Novel Interaction Partner of STXBP1, Is Required to Transport Syntaxin1A to the Plasma Membrane.
Novel presynaptic assay system revealed that metformin ameliorates exaggerated synaptic release and Munc18-1 accumulation in presynapses of neurons from Fragile X syndrome mouse model.
Title: Novel presynaptic assay system revealed that metformin ameliorates exaggerated synaptic release and Munc18-1 accumulation in presynapses of neurons from Fragile X syndrome mouse model.
Presynaptic Short-Term Plasticity Persists in the Absence of PKC Phosphorylation of Munc18-1.
Title: Presynaptic Short-Term Plasticity Persists in the Absence of PKC Phosphorylation of Munc18-1.
Reexamination of N-terminal domains of syntaxin-1 in vesicle fusion from central murine synapses.
Title: Reexamination of N-terminal domains of syntaxin-1 in vesicle fusion from central murine synapses.
Loss of MUNC18-1 leads to retrograde transport defects in neurons.
Title: Loss of MUNC18-1 leads to retrograde transport defects in neurons.
Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy.
Title: Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy.

Submit: New GeneRIF Correction See all GeneRIFs (55)

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (11) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI326233 (e-PCR)
- UniSTS:178605

RH136157 (e-PCR)
- UniSTS:210152

D45903 (e-PCR)
- UniSTS:158952

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SNARE binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
enables phospholipase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables syntaxin binding	ISO Inferred from Sequence Orthology more info
enables syntaxin-1 binding	IBA Inferred from Biological aspect of Ancestor more info
enables syntaxin-1 binding	IDA Inferred from Direct Assay more info	PubMed
enables syntaxin-1 binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin-1 binding	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in SNARE complex assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within axon target recognition	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to type II interferon	IDA Inferred from Direct Assay more info	PubMed
involved_in developmental process involved in reproduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within long-term synaptic depression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of synaptic transmission, GABAergic	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuromuscular synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurotransmitter secretion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neurotransmitter secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet aggregation	ISO Inferred from Sequence Orthology more info
involved_in platelet degranulation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of calcium ion-dependent exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of exocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of glutamate secretion, neurotransmission	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mast cell degranulation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vesicle docking	ISO Inferred from Sequence Orthology more info
involved_in presynaptic dense core vesicle exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein stabilization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of acrosomal vesicle exocytosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of synaptic vesicle priming	ISO Inferred from Sequence Orthology more info
involved_in regulation of vesicle fusion	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle fusion to presynaptic active zone membrane	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within synaptic vesicle maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle priming	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle priming	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle docking involved in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within vesicle docking involved in exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle docking involved in exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in extrinsic component of presynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in extrinsic component of presynaptic membrane	IMP Inferred from Mutant Phenotype 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
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
located_in myelin sheath	HDA more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in parallel fiber to Purkinje cell synapse	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in platelet alpha granule	ISO Inferred from Sequence Orthology more info
located_in postsynapse	ISO Inferred from Sequence Orthology more info
located_in presynapse	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic active zone cytoplasmic component	IDA Inferred from Direct Assay more info	PubMed
located_in presynaptic active zone membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

NM_001113569.1 → NP_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:29 → 575

Sec1; Sec1 family
NM_009295.2 → NP_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:29 → 575

Sec1; Sec1 family