STXBP5 - syntaxin binding protein 5 Gene
Also Known as LGL3; LLGL3; Nbla04300
Species: Homo sapiens
About STXBP5
This gene has 7 transcripts (splice variants), 289 orthologues and 3 paralogues. Ubiquitous expression in brain (RPKM 8.9), testis (RPKM 5.6) and 25 other tissues.
Summary
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 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
STXBP5 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001127715.4 | NP_001121187.1 | syntaxin-binding protein 5 isoform b |
| NM_001394409.1 | NP_001381338.1 | syntaxin-binding protein 5 isoform c |
| NM_139244.6 | NP_640337.3 | syntaxin-binding protein 5 isoform a |
STXBP5 Protein Structure
WD40: WD domain, G-beta repeat (239 - 265)
LLGL: LLGL2 (272 - 384)
WD40: WD domain, G-beta repeat (392 - 464)
Lgl_C: Lethal giant larvae(Lgl) like, C-terminal (906 - 1024)
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- 1151 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
syntaxin-binding protein 5 |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Tongue Squamous Cell Carcinoma |
|
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| Von Willebrand Disease, Type 1 |
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| Von Willebrand'S Disease |
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