• Gene id: 134957

Gene Summary

• Gene Symbol: STXBP5   Gene   UCSC   Ensembl
• Aliases: LGL3, LLGL3, Nbla04300
• Gene name: syntaxin binding protein 5
• Alternate names: syntaxin-binding protein 5, lethal(2) giant larvae protein homolog 3, putative protein product of Nbla04300, tomosyn, tomosyn-1,
• Gene location: 6q24.3 (100358002: 100367830)     Exons: 5     NC_000007.14
• Gene summary(Entrez): Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin
• OMIM: 604586

Protein Summary

• Protein general information: Q5T5C0  
  • Name: Syntaxin binding protein 5 (Lethal(2) giant larvae protein homolog 3) (Tomosyn 1)
  • Length: 1151  
  • Mass: 127573
• Sequence:

  MRKFNIRKVLDGLTAGSSSASQQQQQQHPPGNREPEIQETLQSEHFQLCKTVRHGFPYQPSALAFDPVQKILAVG
  TQTGALRLFGRPGVECYCQHDSGAAVIQLQFLINEGALVSALADDTLHLWNLRQKRPAILHSLKFCRERVTFCHL
  PFQSKWLYVGTERGNIHIVNVESFTLSGYVIMWNKAIELSSKSHPGPVVHISDNPMDEGKLLIGFESGTVVLWDL
  KSKKADYRYTYDEAIHSVAWHHEGKQFICSHSDGTLTIWNVRSPAKPVQTITPHGKQLKDGKKPEPCKPILKVEF
  KTTRSGEPFIILSGGLSYDTVGRRPCLTVMHGKSTAVLEMDYSIVDFLTLCETPYPNDFQEPYAVVVLLEKDLVL
  IDLAQNGYPIFENPYPLSIHESPVTCCEYFADCPVDLIPALYSVGARQKRQGYSKKEWPINGGNWGLGAQSYPEI
  IITGHADGSVKFWDASAITLQVLYKLKTSKVFEKSRNKDDRPNTDIVDEDPYAIQIISWCPESRMLCIAGVSAHV
  IIYRFSKQEVITEVIPMLEVRLLYEINDVETPEGEQPPPLPTPVGGSNPQPIPPQSHPSTSSSSSDGLRDNVPCL
  KVKNSPLKQSPGYQTELVIQLVWVGGEPPQQITSLAVNSSYGLVVFGNCNGIAMVDYLQKAVLLNLGTIELYGSN
  DPYRREPRSPRKSRQPSGAGLCDISEGTVVPEDRCKSPTSGSSSPHNSDDEQKMNNFIEKVKTKSRKFSKMVAND
  IAKMSRKLSLPTDLKPDLDVKDNSFSRSRSSSVTSIDKESREAISALHFCETFTRKTDSSPSPCLWVGTTLGTVL
  VIALNLPPGGEQRLLQPVIVSPSGTILRLKGAILRMAFLDTTGCLIPPAYEPWREHNVPEEKDEKEKLKKRRPVS
  VSPSSSQEISENQYAVICSEKQAKVISLPTQNCAYKQNITETSFVLRGDIVALSNSICLACFCANGHIMTFSLPS
  LRPLLDVYYLPLTNMRIARTFCFTNNGQALYLVSPTEIQRLTYSQETCENLQEMLGELFTPVETPEAPNRGFFKG
  LFGGGAQSLDREELFGESSSGKASRSLAQHIPGPGGIEGVKGAASGVVGELARARLALDERGQKLGDLEERTAAM
  LSSAESFSKHAHEIMLKYKDKKWYQF

• Structural information:
  • Protein Domains: (1086..114-)
    homology (/note="v-SNARE-coiled-coil)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00290"-)
  • Interpro: IPR000664  IPR013905  IPR013577  IPR042855  IPR015943   IPR001680  IPR019775  IPR017986  IPR036322  
  • Prosite: PS50892 PS00678 PS50082 PS50294
  • STRING: ENSP00000321826
• Other Databases: GeneCards:  STXBP5  Malacards:  STXBP5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017157	regulation of exocytosis	TAS	biological process
GO:0045159	myosin II binding	IBA	molecular function
GO:0031201	SNARE complex	IBA	cellular component
GO:0017157	regulation of exocytosis	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0050708	regulation of protein secretion	IBA	biological process
GO:0019905	syntaxin binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0017075	syntaxin-1 binding	IEA	molecular function
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0098888	extrinsic component of presynaptic membrane	IEA	cellular component
GO:0099504	synaptic vesicle cycle	IEA	biological process
GO:0099523	presynaptic cytosol	IEA	cellular component
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0017075	syntaxin-1 binding	ISS	molecular function
GO:0005892	acetylcholine-gated channel complex	ISS	cellular component
GO:0045921	positive regulation of exocytosis	ISS	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)