STXBP5L

Entrez Summary: 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 the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017].
UniProt Summary: May play a role in vesicle trafficking and exocytosis. {ECO:0000305}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 1/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	1/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

LLGL
Lgl C

neuronal dense core vesicle
myosin II binding
negative regulation of insulin secretion
negative regulation of peptide hormone secretion
SNARE complex
syntaxin binding
negative regulation of hormone secretion
neuromuscular junction
regulation of synaptic vesicle exocytosis
regulation of neurotransmitter secretion
regulation of synaptic vesicle cycle
negative regulation of protein secretion
negative regulation of peptide secretion
regulation of neurotransmitter transport
Rab GTPase binding
regulation of regulated secretory pathway
regulation of insulin secretion
negative regulation of protein transport
glucose homeostasis
carbohydrate homeostasis
negative regulation of establishment of protein localization
negative regulation of secretion by cell
regulation of peptide hormone secretion
regulation of exocytosis
negative regulation of secretion
regulation of hormone secretion
GTPase activator activity
regulation of neurotransmitter levels
positive regulation of GTPase activity
modulation of chemical synaptic transmission
regulation of trans-synaptic signaling
regulation of protein secretion
regulation of GTPase activity
negative regulation of transport
regulation of peptide secretion
regulation of hormone levels
regulation of vesicle-mediated transport
regulation of protein transport
regulation of peptide transport
regulation of establishment of protein localization