• Gene id: 9515

Gene Summary

• Gene Symbol: STXBP5L   Gene   UCSC   Ensembl
• Aliases: LLGL4
• Gene name: syntaxin binding protein 5 like
• Alternate names: syntaxin-binding protein 5-like, lethal(2) giant larvae protein homolog 4, tomosyn-2, tomosyn-like,
• Gene location: 3q13.33 (120908204: 121424760)     Exons: 35     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that th
• OMIM: 604844

Protein Summary

• Protein general information: Q9Y2K9  
  • Name: Syntaxin binding protein 5 like (Lethal(2) giant larvae protein homolog 4) (Tomosyn 2)
  • Length: 1186  
  • Mass: 131887
  • Tissue specificity: Detected in kidney, hippocampus and lung carcinoma. {ECO
• Sequence:

  MKKFNFRKVLDGLTASSPGSGSSSGSNSGGGAGSGSVHPAGTAGVLREEIQETLTSEYFQICKTVRHGFPHQPTA
  LAFDPVQKILAIGTRTGAIRILGRPGVDCYCQHESGAAVLQLQFLINEGALVSASSDDTLHLWNLRQKRPAILHS
  LKFNRERITYCHLPFQSKWLYVGTERGNTHIVNIESFILSGYVIMWNKAIELSTKTHPGPVVHLSDSPRDEGKLL
  IGYENGTVVFWDLKSKRAELRVYYDEAIHSIDWHHEGKQFMCSHSDGSLTLWNLKSPSRPFQTTIPHGKSQREGR
  KSESCKPILKVEYKTCKNSEPFIIFSGGLSYDKACRRPSLTIMHGKAITVLEMDHPIVEFLTLCETPYPNEFQEP
  YAVVVLLEKDLIVVDLTQSNFPIFENPYPMDIHESPVTCTAYFADCPPDLILVLYSIGVKHKKQGYSNKEWPISG
  GAWNLGAQTYPEIIITGHADGSIKFWDASAITLQMLYKLKTSKVFEKQKVGEGKQTCEIVEEDPFAIQMIYWCPE
  SRIFCVSGVSAYVIIYKFSRHEITTEIVSLEVRLQYDVEDIITPEPETSPPFPDLSAQLPSSRSLSGSTNTVASE
  GVTKDSIPCLNVKTRPVRMPPGYQAELVIQLVWVDGEPPQQITSLAVSSAYGIVAFGNCNGLAVVDFIQKTVLLS
  MGTIDLYRSSDLYQRQPRSPRKNKQFIADNFCMRGLSNFYPDLTKRIRTSYQSLTELNDSPVPLELERCKSPTSD
  HVNGHCTSPTSQSCSSGKRLSSADVSKVNRWGPGRPPFRKAQSAACMEISLPVTTEENRENSYNRSRSSSISSID
  KDSKEAITALYFMDSFARKNDSTISPCLFVGTSLGMVLIISLNLPLADEQRFTEPVMVLPSGTFLSLKGAVLTFS
  CMDRMGGLMQPPYEVWRDPNNIDENEKSWRRKVVMNSSSASQEIGDHQYTIICSEKQAKVFSLPSQTCLYVHNIT
  ETSFILQANVVVMCSSACLACFCANGHIMIMSLPSLRPMLDVNYLPLTDMRIARTFCFTNEGQALYLVSPTEIQR
  LTYSQEMCDNLQDMLGDLFTPIETPEAQNRGFLKGLFGGSGQTFDREELFGEASAGKASRSLAQHIPGPGSIEGM
  KGAAGGVMGELTRARIALDERGQRLGELEEKTAGMMTSAEAFSKHAHELMLKYKDKKWYQF

• Structural information:
  • Protein Domains: (1121..118-)
    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: ENSP00000273666
• Other Databases: GeneCards:  STXBP5L  Malacards:  STXBP5L

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017157	regulation of exocytosis	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0046676	negative regulation of insulin secretion	IEA	biological process
GO:0098992	neuronal dense core vesicle	IEA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray