STXBP5 - syntaxin binding protein 5 Gene

Also Known as LGL3; LLGL3; Nbla04300

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 134957

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

WD40: WD domain, G-beta repeat (239 - 265)

LLGL

LLGL: LLGL2 (272 - 384)

WD40

WD40: WD domain, G-beta repeat (392 - 464)

Lgl_C

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

  • 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

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