• Gene id: 6814

Gene Summary

• Gene Symbol: STXBP3   Gene   UCSC   Ensembl
• Aliases: MUNC18-3, MUNC18C, PSP, UNC-18C
• Gene name: syntaxin binding protein 3
• Alternate names: syntaxin-binding protein 3, platelet Sec1 protein, protein unc-18 homolog 3, protein unc-18 homolog C, syntaxin 4 binding protein, unc18-3,
• Gene location: 1p13.3 (108746673: 108809522)     Exons: 19     NC_000001.11
• OMIM: 608339

Protein Summary

• Protein general information: O00186  
  • Name: Syntaxin binding protein 3 (Platelet Sec1 protein) (PSP) (Protein unc 18 homolog 3) (Unc18 3) (Protein unc 18 homolog C) (Unc 18C)
  • Length: 592  
  • Mass: 67764
  • Tissue specificity: Megakaryocytes and platelets.
• Sequence:

  MAPPVAERGLKSVVWQKIKATVFDDCKKEGEWKIMLLDEFTTKLLASCCKMTDLLEEGITVVENIYKNREPVRQM
  KALYFITPTSKSVDCFLHDFASKSENKYKAAYIYFTDFCPDNLFNKIKASCSKSIRRCKEINISFIPHESQVYTL
  DVPDAFYYCYSPDPGNAKGKDAIMETMADQIVTVCATLDENPGVRYKSKPLDNASKLAQLVEKKLEDYYKIDEKS
  LIKGKTHSQLLIIDRGFDPVSTVLHELTFQAMAYDLLPIENDTYKYKTDGKEKEAILEEEDDLWVRIRHRHIAVV
  LEEIPKLMKEISSTKKATEGKTSLSALTQLMKKMPHFRKQITKQVVHLNLAEDCMNKFKLNIEKLCKTEQDLALG
  TDAEGQKVKDSMRVLLPVLLNKNHDNCDKIRAILLYIFSINGTTEENLDRLIQNVKIENESDMIRNWSYLGVPIV
  PQSQQGKPLRKDRSAEETFQLSRWTPFIKDIMEDAIDNRLDSKEWPYCSQCPAVWNGSGAVSARQKPRANYLEDR
  KNGSKLIVFVIGGITYSEVRCAYEVSQAHKSCEVIIGSTHVLTPKKLLDDIKMLNKPKDKVSLIKDE

• Structural information:
  • Interpro: IPR027482  IPR001619  IPR036045  
  • STRING: ENSP00000359025
• Other Databases: GeneCards:  STXBP3  Malacards:  STXBP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030141	secretory granule	IBA	cellular component
GO:0017075	syntaxin-1 binding	IBA	molecular function
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0007269	neurotransmitter secretion	IBA	biological process
GO:0019905	syntaxin binding	IBA	molecular function
GO:0006904	vesicle docking involved in exocytosis	IBA	biological process
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006904	vesicle docking involved in exocytosis	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0071346	cellular response to interferon-gamma	IEA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0030073	insulin secretion	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0017075	syntaxin-1 binding	IEA	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0046325	negative regulation of glucose import	IEA	biological process
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0022615	protein to membrane docking	IEA	biological process
GO:0019905	syntaxin binding	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0001678	cellular glucose homeostasis	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0019905	syntaxin binding	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0031091	platelet alpha granule	IDA	cellular component
GO:0070820	tertiary granule	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0042581	specific granule	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070527	platelet aggregation	IMP	biological process
GO:0043312	neutrophil degranulation	IEP	biological process
GO:0019905	syntaxin binding	IPI	molecular function
GO:0019905	syntaxin binding	IPI	molecular function
GO:0045955	negative regulation of calcium ion-dependent exocytosis	IMP	biological process
GO:0098793	presynapse	IMP	cellular component
GO:0098793	presynapse	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)