Stxbp5l syntaxin binding protein 5-like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Stxbp5lprovided by MGI
Official Full Name: syntaxin binding protein 5-likeprovided by MGI
Primary source: MGI:MGI:2443815
See related: Ensembl:ENSMUSG00000022829 AllianceGenome:MGI:2443815
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: LLGL4; T2dm1; t2md1; tomosyn-2; 9430094L02; A830015P08Rik
Summary: Enables syntaxin binding activity. Involved in regulation of synaptic vesicle exocytosis. Acts upstream of or within glucose homeostasis and regulation of secretion by cell. Located in plasma membrane. Is active in neuromuscular junction and neuronal dense core vesicle. Is expressed in several structures, including alimentary system; brain; male reproductive gland or organ; spinal cord; and trigeminal nerve. Orthologous to human STXBP5L (syntaxin binding protein 5L). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 6.9), frontal lobe adult (RPKM 4.8) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 26.32 cM; 16 B3

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (36927437..37205377, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (37107075..37385015, complement)

Chromosome 16 - NC_000082.7 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
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?

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.
tomosyn-2 supports motor performance by regulation of transmitter release willingness to sustain synaptic strength during high-frequency transmission, which makes this gene a candidate for involvement in neuromuscular disorders.
Title: Tomosyn-2 is required for normal motor performance in mice and sustains neurotransmission at motor endplates.
Data indicate that glucose induces phosphorylation, ubiquitination, and degradation of tomosyn-2.
Title: Phosphorylation and degradation of tomosyn-2 de-represses insulin secretion.
these findings suggest that tomosyn-2 is a key negative regulator of insulin secretion.
Title: Positional cloning of a type 2 diabetes quantitative trait locus; tomosyn-2, a negative regulator of insulin secretion.

Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description	Tests
type 2 diabetes mellitus 1 GeneReviews: Not available

Variation

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Alleles

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

Targeted (4) 1 citation
QTL (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A888 (e-PCR)
- UniSTS:127748

D16Mit226 (e-PCR), detects polymorphism
- UniSTS:127861

Homology

Orthologs from Annotation Pipeline: 338 organisms have orthologs with human gene Stxbp5l
Orthologs

Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within exocytosis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of insulin secretion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of exocytosis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within regulation of exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein secretion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of synaptic vesicle exocytosis	EXP Inferred from Experiment 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

Component	Evidence Code	Pubs
part_of SNARE complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in neuromuscular junction	EXP Inferred from Experiment more info	PubMed
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in neuronal dense core vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuronal dense core vesicle	IEP Inferred from Expression Pattern more info	PubMed
is_active_in neuronal dense core vesicle	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: syntaxin-binding protein 5-like

Names: insulin level locus 1; lethal(2) giant larvae protein homolog 4; tomosyn 2

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_001114611.1 → NP_001108083.1 syntaxin-binding protein 5-like isoform s

See identical proteins and their annotated locations for NP_001108083.1

Status: VALIDATED

Source sequence(s)

AC113964, AC116468, AC155254

Consensus CDS

CCDS49846.1

UniProtKB/Swiss-Prot

Q5DQR4

Related

ENSMUSP00000110428.2, ENSMUST00000114780.8

Conserved Domains (5) summary

COG2319
Location:108 → 493

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1037 → 1097

R-SNARE_STXBP5; SNARE domain of STXBP5

pfam08366
Location:288 → 395

LLGL; LLGL2

sd00039
Location:73 → 106

7WD40; WD40 repeat [structural motif]

cl02567
Location:73 → 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_001114612.1 → NP_001108084.1 syntaxin-binding protein 5-like isoform b

See identical proteins and their annotated locations for NP_001108084.1

Status: VALIDATED

Source sequence(s)

AC155254, AK035159, BU609516, BY256769

Consensus CDS

CCDS49847.1

UniProtKB/Swiss-Prot

Q5DQR4

Related

ENSMUSP00000110430.2, ENSMUST00000114782.8

Conserved Domains (5) summary

COG2319
Location:248 → 551

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1094 → 1154

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:73 → 106

7WD40; WD40 repeat [structural motif]

pfam08366
Location:287 → 395

LLGL; LLGL2

cl29593
Location:73 → 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_001114613.1 → NP_001108085.1 syntaxin-binding protein 5-like isoform m

See identical proteins and their annotated locations for NP_001108085.1

Status: VALIDATED

Source sequence(s)

AC113964, AC116468, AC155254

Consensus CDS

CCDS49848.1

UniProtKB/Swiss-Prot

Q5DQR4

Related

ENSMUSP00000110429.2, ENSMUST00000114781.8

Conserved Domains (5) summary

COG2319
Location:108 → 493

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1061 → 1121

R-SNARE_STXBP5; SNARE domain of STXBP5

pfam08366
Location:288 → 395

LLGL; LLGL2

sd00039
Location:73 → 106

7WD40; WD40 repeat [structural motif]

cl02567
Location:73 → 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_172440.3 → NP_766028.2 syntaxin-binding protein 5-like isoform xb

See identical proteins and their annotated locations for NP_766028.2

Status: VALIDATED

Source sequence(s)

AC113964, AC116468, AC155254

Consensus CDS

CCDS28159.2

UniProtKB/Swiss-Prot

Q5DQR4, Q8BS52

Related

ENSMUSP00000110435.2, ENSMUST00000114787.8

Conserved Domains (5) summary

COG2319
Location:108 → 493

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1118 → 1178

R-SNARE_STXBP5; SNARE domain of STXBP5

pfam08366
Location:288 → 395

LLGL; LLGL2

sd00039
Location:73 → 106

7WD40; WD40 repeat [structural motif]

cl02567
Location:73 → 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 ...

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

36927437..37205377 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036159822.1 → XP_036015715.1 syntaxin-binding protein 5-like isoform X5

Conserved Domains (5) summary

COG2319
Location:248 → 551

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1068 → 1128

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:73 → 106

7WD40; WD40 repeat [structural motif]

pfam08366
Location:287 → 395

LLGL; LLGL2

cl29593
Location:73 → 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_006521886.4 → XP_006521949.1 syntaxin-binding protein 5-like isoform X2

Conserved Domains (5) summary

COG2319
Location:248 → 551

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1125 → 1185

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:73 → 106

7WD40; WD40 repeat [structural motif]

pfam08366
Location:287 → 395

LLGL; LLGL2

cl29593
Location:73 → 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_036159821.1 → XP_036015714.1 syntaxin-binding protein 5-like isoform X4

Conserved Domains (5) summary

COG2319
Location:248 → 551

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1092 → 1152

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:73 → 106

7WD40; WD40 repeat [structural motif]

pfam08366
Location:287 → 395

LLGL; LLGL2

cl29593
Location:73 → 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_006521884.4 → XP_006521947.1 syntaxin-binding protein 5-like isoform X1

See identical proteins and their annotated locations for XP_006521947.1

Conserved Domains (5) summary

COG2319
Location:248 → 551

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1149 → 1209

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:73 → 106

7WD40; WD40 repeat [structural motif]

pfam08366
Location:287 → 395

LLGL; LLGL2

cl29593
Location:73 → 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_036159824.1 → XP_036015717.1 syntaxin-binding protein 5-like isoform X6

Conserved Domains (4) summary

COG2319
Location:9 → 285

WD40; WD40 repeat [General function prediction only]

cd15893
Location:956 → 1016

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:17 → 54

7WD40; WD40 repeat [structural motif]

pfam08366
Location:94 → 202

LLGL; LLGL2
XM_017316899.3 → XP_017172388.1 syntaxin-binding protein 5-like isoform X6

Conserved Domains (4) summary

COG2319
Location:9 → 285

WD40; WD40 repeat [General function prediction only]

cd15893
Location:956 → 1016

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:17 → 54

7WD40; WD40 repeat [structural motif]

pfam08366
Location:94 → 202

LLGL; LLGL2
XM_036159823.1 → XP_036015716.1 syntaxin-binding protein 5-like isoform X6

Conserved Domains (4) summary

COG2319
Location:9 → 285

WD40; WD40 repeat [General function prediction only]

cd15893
Location:956 → 1016

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:17 → 54

7WD40; WD40 repeat [structural motif]

pfam08366
Location:94 → 202

LLGL; LLGL2
XM_030249014.1 → XP_030104874.1 syntaxin-binding protein 5-like isoform X10

Conserved Domains (1) summary

cd15893
Location:722 → 782

R-SNARE_STXBP5; SNARE domain of STXBP5
XM_030249013.1 → XP_030104873.1 syntaxin-binding protein 5-like isoform X9

Conserved Domains (1) summary

cd15893
Location:746 → 806

R-SNARE_STXBP5; SNARE domain of STXBP5
XM_036159827.1 → XP_036015720.1 syntaxin-binding protein 5-like isoform X11

Conserved Domains (1) summary

cd15893
Location:634 → 694

R-SNARE_STXBP5; SNARE domain of STXBP5
XM_036159826.1 → XP_036015719.1 syntaxin-binding protein 5-like isoform X8

Conserved Domains (4) summary

COG2319
Location:9 → 285

WD40; WD40 repeat [General function prediction only]

cd15893
Location:901 → 961

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:17 → 54

7WD40; WD40 repeat [structural motif]

pfam08366
Location:94 → 202

LLGL; LLGL2
XM_036159825.1 → XP_036015718.1 syntaxin-binding protein 5-like isoform X7

Conserved Domains (4) summary

COG2319
Location:9 → 285

WD40; WD40 repeat [General function prediction only]

cd15893
Location:925 → 985

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:17 → 54

7WD40; WD40 repeat [structural motif]

pfam08366
Location:94 → 202

LLGL; LLGL2
XM_030249011.2 → XP_030104871.1 syntaxin-binding protein 5-like isoform X3

Conserved Domains (5) summary

COG2319
Location:248 → 551

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1094 → 1154

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:73 → 106

7WD40; WD40 repeat [structural motif]

pfam08366
Location:287 → 395

LLGL; LLGL2

cl29593
Location:73 → 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_006521885.5 → XP_006521948.1 syntaxin-binding protein 5-like isoform X1

See identical proteins and their annotated locations for XP_006521948.1

Conserved Domains (5) summary

COG2319
Location:248 → 551

WD40; WD40 repeat [General function prediction only]

cd15893
Location:1149 → 1209

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:73 → 106

7WD40; WD40 repeat [structural motif]

pfam08366
Location:287 → 395

LLGL; LLGL2

cl29593
Location:73 → 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_011245849.3 → XP_011244151.1 syntaxin-binding protein 5-like isoform X6

Conserved Domains (4) summary

COG2319
Location:9 → 285

WD40; WD40 repeat [General function prediction only]

cd15893
Location:956 → 1016

R-SNARE_STXBP5; SNARE domain of STXBP5

sd00039
Location:17 → 54

7WD40; WD40 repeat [structural motif]

pfam08366
Location:94 → 202

LLGL; LLGL2
XM_011245850.2 → XP_011244152.1 syntaxin-binding protein 5-like isoform X9

Conserved Domains (1) summary

cd15893
Location:746 → 806

R-SNARE_STXBP5; SNARE domain of STXBP5