STXBP3 syntaxin binding protein 3 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: STXBP3provided by HGNC
Official Full Name: syntaxin binding protein 3provided by HGNC
Primary source: HGNC:11446
See related: Ensembl:ENSG00000116266; HPRD:10517; MIM:608339; Vega:OTTHUMG00000011122
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PSP; MUNC18C; UNC-18C; MUNC18-3

Help top of page

Genomic context

Location :: 1p13.3

Sequence :: Chromosome: 1; NC_000001.10 (109289285..109352148)

See STXBP3 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The identify IR as the first known tyrosine kinase for Munc18c as part of a new insulin-signaling step in GLUT4 vesicle exocytosis.
Title: Munc18c phosphorylation by the insulin receptor links cell signaling directly to SNARE exocytosis.
Expression of the SNARE-interacting protein Munc18c is higher in skeletal muscle from patients with type 2 diabetes.
Title: The SNARE protein SNAP23 and the SNARE-interacting protein Munc18c in human skeletal muscle are implicated in insulin resistance/type 2 diabetes.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
These results indicate that insulin induces dynamic associations between PKCzeta, 80K-H, and munc18c and that 80K-H may act as a key signaling link between PKCzeta and munc18c in live cells.
Title: 80K-H acts as a signaling bridge in intact living cells between PKCzeta and the GLUT4 translocation regulator Munc18c.
Munc18-2 acts as a regulator of primary granule exocytosis, while Munc18-3 may preferentially regulate the fusion of secondary granules
Title: Involvement of Munc18 isoforms in the regulation of granule exocytosis in neutrophils.
Calpha activation and phosphorylation of syntaxin 4 and Munc18c are required for the cell surface expression of P-selectin and the consequent binding of neutrophils to endothelial cells.
Title: Protease-activated receptor-1 activation of endothelial cells induces protein kinase Calpha-dependent phosphorylation of syntaxin 4 and Munc18c: role in signaling p-selectin expression.

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
NP_009200.1	AAP88860.1	PRKCSH	BIND	PubMed	PRKCSH (80K-H) interacts with STXBP3 (Munc18c).This interaction was modelled on a demonstrated interaction between human 80K-H and hamster Munc18c.
O00186	Q9UHI6	DDX20	HPRD	PubMed
O00186	O14893	GEMIN2	HPRD	PubMed
O00186	P57678	GEMIN4	HPRD	PubMed
O00186	Q8TEQ6	GEMIN5	HPRD	PubMed
O00186	P17252	PRKCA	HPRD	PubMed
O00186	Q16637	SMN2	HPRD	PubMed
O00186	P14678	SNRPB	HPRD	PubMed
O00186	P62316	SNRPD2	HPRD	PubMed
O00186	P62318	SNRPD3	HPRD	PubMed
O00186	Q12846	STX4	HPRD	PubMed
O00186	Q15833	STXBP2	HPRD	PubMed
BioGRID:112683	BioGRID:114303	SNAP23	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112683	BioGRID:119928	SNTG1	BioGRID	PubMed	Reconstituted Complex
BioGRID:112683	BioGRID:108368	STX2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112683	BioGRID:112679	STX4	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:112683	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112683	BioGRID:112711	VAMP2	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed
syntaxin binding	IPI Inferred from Physical Interaction more info	PubMed
syntaxin-1 binding	IEA Inferred from Electronic Annotation more info
syntaxin-2 binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
blood coagulation	TAS Traceable Author Statement more info
negative regulation of calcium ion-dependent exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
neutrophil degranulation	IEP Inferred from Expression Pattern more info	PubMed
platelet activation	TAS Traceable Author Statement more info
platelet aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
protein transport	IEA Inferred from Electronic Annotation more info
vesicle docking involved in exocytosis	IEA Inferred from Electronic Annotation more info
vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
apical plasma membrane	IEA Inferred from Electronic Annotation more info
basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
platelet alpha granule	IDA Inferred from Direct Assay more info	PubMed
specific granule	IDA Inferred from Direct Assay more info	PubMed
tertiary granule	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: syntaxin-binding protein 3

Names: syntaxin-binding protein 3; unc18-3; platelet Sec1 protein; protein unc-18 homolog 3; protein unc-18 homolog C; syntaxin 4 binding protein

Help top of page

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.

mRNA and Protein(s)

NM_007269.2 → NP_009200.2 syntaxin-binding protein 3

Status: VALIDATED

Source sequence(s)

AF032922, CN409056

Consensus CDS

CCDS790.1

UniProtKB/Swiss-Prot

O00186

Related

ENSP00000359025, OTTHUMP00000012823, ENST00000370008, OTTHUMT00000030591

Conserved Domains (1) summary

cl15415
Location:32 – 576
Blast Score: 1282

Sec1; Sec1 family

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

109289285..109352148

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

107182124..107244974

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL449266.17	CAI14350.1
genomic	AL591719.8	CAH72066.1
genomic	CH471122.1	EAW56330.1
		EAW56331.1
		EAW56332.1
mRNA	AF032922.1	AAC69606.1
mRNA	AK223170.1	BAD96890.1
mRNA	AK290134.1	BAF82823.1
mRNA	AK291322.1	BAF84011.1
mRNA	AK312910.1	BAG35756.1
mRNA	BC028028.1	None
mRNA	BC038099.2	AAH38099.1
mRNA	BC047764.1	AAH47764.1
mRNA	CN409056.1	None
mRNA	D63506.1	BAA19482.1