Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Stxbp1. (This text reflects annotations as of Thursday, July 24, 2014.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Stxbp1
  • participates in the following biological processes:
    • negative regulation of synaptic transmission, GABAergic ^[4]
    • positive regulation of calcium ion-dependent exocytosis ^[7]
  • is located in the following cellular components:
    • mitochondrion ^[8]
• The gene product of Stxbp1 has been shown to bind to the gene products of Syde1. ^{[2, 11]} Researchers have inferred, based on physical interactions, that the gene product of Stxbp1
  • performs the following molecular functions:
    • syntaxin-1 binding ^[5]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Stxbp1
  • participates in the following biological processes:
    • axon target recognition ^[6]
    • exocytosis ^[10]
    • long term synaptic depression ^[9]
    • negative regulation of neuron apoptotic process ^[3]
    • neuromuscular synaptic transmission ^[9]
    • neurotransmitter secretion ^[3]
    • synaptic vesicle maturation ^[1]
    • vesicle docking involved in exocytosis ^[10]
  • is located in the following cellular components:
    • cell ^[10]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Stxbp1:
  • participates in the following biological processes:
    • platelet aggregation
    • platelet degranulation
    • positive regulation of exocytosis
    • protein stabilization
    • regulation of synaptic vesicle priming
  • performs the following molecular functions:
    • identical protein binding
    • poly(A) RNA binding
    • protein domain specific binding
    • protein kinase binding
    • protein N-terminus binding
    • SNARE binding
    • syntaxin binding
    • syntaxin-1 binding
  • is located in the following cellular components:
    • cytoplasm
    • extracellular vesicular exosome
    • plasma membrane
    • platelet alpha granule
    • protein complex

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Summary text based on GO annotations supported by structural data

• Stxbp1 encodes a protein or proteins that contain the following InterPro domains: Sec1-like protein, Sec1-like, domain 2, indicating that the gene product:
  • participates in the following biological processes:
    • vesicle-mediated transport

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Stxbp1 indicates that it:
  • participates in the following biological processes:
    • protein transport
    • transport

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References

1. Bouwman J et al. (2004) Quantification of synapse formation and maintenance in vivo in the absence of synaptic release. Neuroscience, 126:115-26. (PubMed:15145078)
2. Fukuda M. (2003) Slp4-a/Granuphilin-a Inhibits Dense-core Vesicle Exocytosis through Interaction with the GDP-bound Form of Rab27A in PC12 Cells. J Biol Chem, 278:15390-6. (PubMed:12590134)
3. Heeroma JH et al. (2004) Trophic support delays but does not prevent cell-intrinsic degeneration of neurons deficient for munc18-1. Eur J Neurosci, 20:623-34. (PubMed:15255974)
4. Ho A et al. (2006) Genetic analysis of Mint/X11 proteins: essential presynaptic functions of a neuronal adaptor protein family. J Neurosci, 26:13089-101. (PubMed:17167098)
5. Katagiri H et al. (1995) A novel isoform of syntaxin-binding protein homologous to yeast Sec1 expressed ubiquitously in mammalian cells. J Biol Chem, 270:4963-6. (PubMed:7890599)
6. Korteweg N et al. (2004) Development of the mouse hypothalamo-neurohypophysial system in the munc18-1 null mutant that lacks regulated secretion. Eur J Neurosci, 19:2944-52. (PubMed:15182301)
7. Lilja L et al. (2004) Cyclin-dependent kinase 5 associated with p39 promotes Munc18-1 phosphorylation and Ca(2+)-dependent exocytosis. J Biol Chem, 279:29534-41. (PubMed:15123626)
8. Mootha VK et al. (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell, 115:629-40. (PubMed:14651853)
9. Toonen RF et al. (2006) Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size. Proc Natl Acad Sci U S A, 103:18332-7. (PubMed:17110441)
10. Voets T et al. (2001) Munc18-1 promotes large dense-core vesicle docking. Neuron, 31:581-91. (PubMed:11545717)
11. Wentzel C et al. (2013) mSYD1A, a mammalian synapse-defective-1 protein, regulates synaptogenic signaling and vesicle docking. Neuron, 78:1012-23. (PubMed:23791195)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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