STXBP5 - syntaxin binding protein 5 Gene

Homo sapiens

Also known as LGL3; LLGL3; Nbla04300

Gene ID: 134957 | Gene type: protein coding

About STXBP5

Cytogenetic location: 6q24.3 Genomic coordinates (GRCh38): 6:147,204,417-147,390,473 (from NCBI)

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

LLGL

WD40

Lgl_C

0
200
400
600
800
1000
1151 a.a.

Protein Preferred Names

Protein Names

syntaxin-binding protein 5

lethal(2) giant larvae protein homolog 3

Related Diseases

Diseases

Alias

Tongue Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Tongue

Von Willebrand Disease, Type 1

Von Willebrand Disease Type 1	VWD1
Von Willebrand'S Disease 1	Von Willebrand Disease Type I
Von Willebrand Disease, Type I	Vwd, Type 1
Vwd Type 1	Von Willebrand Disease 1
Von Willebrand Factor Deficiency Type 1	Von Willebrand Disease, Type 1, Susceptibility To

Von Willebrand'S Disease

Von Willebrand Disease	Von Willebrand Disorder
Vascular Pseudohemophilia	Hereditary Von Willebrand Disease
Vwd	Vascular Hemophilia
Von Willebrand'S-Jurgens' Disease	Von Willebrand-Jrgens Disease
Von Willebrand Factor Deficiency	Von Willebrand Factor, Deficiency
Angiohemophilia	Von Willebrand'S Factor Deficiency
Von Willebrand Diseases	Factor Viii Deficiency With Vascular Defect
Vascular Haemophilia	Willebrand Jurgen Thrombopathy
Pseudohaemophilia	Minot-Von Willebrand-Jurgen Disease
Angiohaemophilia	Angiohaemophilia A
Angiohaemophilia B

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13993	STXBP5 Human Pre-designed siRNA Set A		/	Unkown
HY-RS13994	STXBP5L Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	STXBP5	VGNC	VGNC:78172
Canis familiaris	STXBP5	VGNC	VGNC:46963
Mus musculus	STXBP5	MGD	MGI:1926058
Felis catus	STXBP5	VGNC	VGNC:65821
Bos taurus	STXBP5	VGNC	VGNC:35448
Rattus norvegicus	STXBP5	RGD	RGD:708517

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