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STXBP5L

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].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
syntaxin binding protein 5 like	MIM:609381	Ensembl:ENSG00000145087	HGNC:HGNC:30757	PA134976391	3q13.33

GO terms in STXBP5L

Term Type	Evidence Type	GO Term ID	GO Des.
CC	IBA	GO:0005737	cytoplasm
CC	IBA	GO:0005886	plasma membrane
CC	IEA	GO:0016021	integral component of membrane
BP	IEA	GO:0006887	exocytosis
BP	IEA	GO:0015031	protein transport
BP	IBA	GO:0017157	regulation of exocytosis
BP	IEA	GO:0042593	glucose homeostasis
BP	IEA	GO:0043547	positive regulation of GTPase activity
BP	IEA	GO:0046676	negative regulation of insulin secretion
BP	IBA	GO:0050708	regulation of protein secretion
BP	IEA	GO:0050714	positive regulation of protein secretion
MF	IBA	GO:0005096	GTPase activator activity
MF	IBA	GO:0017137	Rab GTPase binding
MF	IBA	GO:0019905	syntaxin binding

Gene expression in normal tissue: STXBP5L

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in STXBP5L

Database	Pathway ID	Pathway Des.

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD353	PD0325901	1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in STXBP5L

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