1. Gene
  2. STXBP5 - syntaxin binding protein 5 Gene

STXBP5 - syntaxin binding protein 5 Gene

中文名称:突触融合蛋白结合蛋白 5

种属: Homo sapiens

同用名: LGL3; LLGL3; Nbla04300

基因 ID: 134957 | 基因类型: protein coding

关于 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.

功能概要

Syntaxin 1 是 7S 和 20S SNARE 复合物的组成部分,它们参与突触小泡与突触前质膜的对接和融合。该基因编码突触融合蛋白 1 结合蛋白。在大鼠体内,一种类似的蛋白质将突触融合蛋白 1 从 Munc18/n-Sec1/rbSec1 复合体中解离出来,形成 10S 复合体,这是一种可以转化为 7S SNARE 复合体的中间体。因此,这种蛋白质被认为通过刺激 SNARE 复合物的形成而参与神经递质释放。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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 蛋白结构

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)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1151 a.a.
蛋白主名 其他名称

syntaxin-binding protein 5

lethal(2) giant larvae protein homolog 3

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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