Stxbp5 syntaxin binding protein 5 (tomosyn) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Stxbp5provided by MGI
Official Full Name: syntaxin binding protein 5 (tomosyn)provided by MGI
Primary source: MGI:MGI:1926058
See related: Ensembl:ENSMUSG00000019790 AllianceGenome:MGI:1926058
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: LGL3; mKIAA1006; 0710001E20Rik; 4930565N16Rik
Summary: Enables syntaxin-1 binding activity. Involved in positive regulation of exocytosis; regulation of synaptic vesicle exocytosis; and regulation of synaptic vesicle priming. Acts upstream of or within exocytosis and regulation of exocytosis. Part of acetylcholine-gated channel complex. Is active in hippocampal mossy fiber to CA3 synapse and presynapse. Is extrinsic component of neuronal dense core vesicle membrane. Orthologous to human STXBP5 (syntaxin binding protein 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in frontal lobe adult (RPKM 5.5), cortex adult (RPKM 4.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 A1; 10 3.21 cM

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (9631285..9776987, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (9755547..9901287, complement)

Chromosome 10 - NC_000076.7 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 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?

Tomosyn affects dense core vesicle composition but not exocytosis in mammalian neurons.
Title: Tomosyn affects dense core vesicle composition but not exocytosis in mammalian neurons.
Genetic ablation of synaptotagmin-9 alters tomosyn-1 function to increase insulin secretion from pancreatic beta-cells improving glucose clearance.
Title: Genetic ablation of synaptotagmin-9 alters tomosyn-1 function to increase insulin secretion from pancreatic β-cells improving glucose clearance.
Data indicate that bidirectional moving tomosyn-1 (Stxbp5) and tomosyn-2 (Stxbp5l) puncta were observed.
Title: Tomosyn associates with secretory vesicles in neurons through its N- and C-terminal domains.
Mouse Embryonic Stem (mES) cells self-differentiated into arginine vasopressin (AVP) neurons (mES-AVP) that expressed tomosyn and two transmembrane SNARE proteins, including SNAP25 and syntaxin1. Tomosyn negatively regulates arginine vasopressin secretion in embryonic stem cell-derived neurons.
Title: Tomosyn Negatively Regulates Arginine Vasopressin Secretion in Embryonic Stem Cell-Derived Neurons.
PIASgamma-dependent modification of tomosyn-1 with SUMO-2/3 presents a novel mechanism to adapt secretory strength to the dynamic synaptic environment.
Title: Tomosyn interacts with the SUMO E3 ligase PIASγ.
STXBP5 inhibits endothelial exocytosis and promotes platelet secretion
Title: Syntaxin-binding protein STXBP5 inhibits endothelial exocytosis and promotes platelet secretion.
STXBP5 is required for normal arterial hemostasis, due to its contributions to platelet granule cargo packaging and secretion
Title: Platelet secretion and hemostasis require syntaxin-binding protein STXBP5.
regulates SNARE complex formation and synaptic vesicle fusion. (review)
Title: [Roles of tomosyn in regulated synaptic vesicle fusion].
It regulates vesicle fusion. (review)
Title: [Novel roles of tomosyn in regulated vesicle fusion].
Tomosyn inhibits neurotransmitter release by catalyzing oligomerization of the SNARE complex through the N-terminal WD-40 repeat domain in addition to the inhibitory activity of the C-terminal (VAMP)-like domain.
Title: Dual inhibition of SNARE complex formation by tomosyn ensures controlled neurotransmitter release.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Endonuclease-mediated (4) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236305

UniSTS:236306 (e-PCR)
- UniSTS:236306

AI467283 (e-PCR)
- UniSTS:165677

AW742610 (e-PCR)
- UniSTS:208484

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables myosin II binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin binding	IBA Inferred from Biological aspect of Ancestor more info
enables syntaxin binding	IPI Inferred from Physical Interaction more info	PubMed
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

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in axonogenesis	TAS Traceable Author Statement more info	PubMed
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in exocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic vesicle priming	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle priming	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of synaptic vesicle priming	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle cycle	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of SNARE complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in Schaffer collateral - CA1 synapse	ISO Inferred from Sequence Orthology more info
part_of acetylcholine-gated channel complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in extrinsic component of neuronal dense core vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in extrinsic component of neuronal dense core vesicle membrane	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in extrinsic component of presynaptic membrane	ISO Inferred from Sequence Orthology more info
is_active_in hippocampal mossy fiber to CA3 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in hippocampal mossy fiber to CA3 synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in hippocampal mossy fiber to CA3 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in neuromuscular junction	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynapse	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic cytosol	ISO Inferred from Sequence Orthology more info
located_in secretory granule	NAS Non-traceable Author Statement more info	PubMed
is_active_in synaptic vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: syntaxin-binding protein 5

Names: lethal(2) giant larvae protein homolog 3; tomosyn-1

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_001081344.3 → NP_001074813.2 syntaxin-binding protein 5 isoform 1

Status: VALIDATED

Source sequence(s)

AC122390

Consensus CDS

CCDS35837.2

UniProtKB/TrEMBL

D3Z079

Related

ENSMUSP00000123253.2, ENSMUST00000141722.8

Conserved Domains (5) summary

COG2319
Location:47 → 275

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1049 → 1109

R-SNARE_STXBP5; SNARE domain of STXBP5

pfam08366
Location:277 → 384

LLGL; LLGL2

sd00039
Location:62 → 95

7WD40; WD40 repeat [structural motif]

cl02567
Location:62 → 280

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001408063.1 → NP_001394992.1 syntaxin-binding protein 5 isoform 2

Status: VALIDATED

Source sequence(s)

AC122390

UniProtKB/Swiss-Prot

E9QLY8, Q80TM5, Q8K400, Q8K401, Q9D2F3

Related

ENSMUSP00000044535.8, ENSMUST00000038213.14
NM_001408064.1 → NP_001394993.1 syntaxin-binding protein 5 isoform 3

Status: VALIDATED

Source sequence(s)

AC122390
NM_001408065.1 → NP_001394994.1 syntaxin-binding protein 5 isoform 4

Status: VALIDATED

Source sequence(s)

AC122390

UniProtKB/TrEMBL

D3Z2Q2

Related

ENSMUSP00000121507.2, ENSMUST00000125200.8

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_000076.7 Reference GRCm39 C57BL/6J

Range

9631285..9776987 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006512927.5 → XP_006512990.1 syntaxin-binding protein 5 isoform X5

Conserved Domains (5) summary

COG2319
Location:237 → 539

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1069 → 1129

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:62 → 95

7WD40; WD40 repeat [structural motif]

pfam08366
Location:276 → 384

LLGL; LLGL2

cl29593
Location:62 → 280

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_036156111.1 → XP_036012004.1 syntaxin-binding protein 5 isoform X6

Conserved Domains (5) summary

COG2319
Location:237 → 539

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1060 → 1120

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:62 → 95

7WD40; WD40 repeat [structural motif]

pfam08366
Location:276 → 384

LLGL; LLGL2

cl29593
Location:62 → 280

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_036156109.1 → XP_036012002.1 syntaxin-binding protein 5 isoform X2

Conserved Domains (5) summary

COG2319
Location:237 → 539

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1097 → 1157

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:62 → 95

7WD40; WD40 repeat [structural motif]

pfam08366
Location:276 → 384

LLGL; LLGL2

cl29593
Location:62 → 280

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_036156108.1 → XP_036012001.1 syntaxin-binding protein 5 isoform X1

Conserved Domains (5) summary

COG2319
Location:237 → 539

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1113 → 1173

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:62 → 95

7WD40; WD40 repeat [structural motif]

pfam08366
Location:276 → 384

LLGL; LLGL2

cl29593
Location:62 → 280

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_036156113.1 → XP_036012006.1 syntaxin-binding protein 5 isoform X9

Conserved Domains (4) summary

COG2319
Location:237 → 539

WD40; WD40 repeat [General function prediction only]

sd00039
Location:62 → 95

7WD40; WD40 repeat [structural motif]

pfam08366
Location:276 → 384

LLGL; LLGL2

cl29593
Location:62 → 280

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_036156112.1 → XP_036012005.1 syntaxin-binding protein 5 isoform X8

Conserved Domains (4) summary

COG2319
Location:237 → 539

WD40; WD40 repeat [General function prediction only]

sd00039
Location:62 → 95

7WD40; WD40 repeat [structural motif]

pfam08366
Location:276 → 384

LLGL; LLGL2

cl29593
Location:62 → 280

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

XR_004936314.1 RNA Sequence
XR_004936310.1 RNA Sequence
XR_004936311.1 RNA Sequence
XR_004936313.1 RNA Sequence
XR_004936312.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_030191.1: Suppressed sequence

Description

NM_030191.1: This RefSeq was removed because currently there is insufficient support for the transcript.