2. Gene
  3. VAMP1 - vesicle associated membrane protein 1 Gene

VAMP1 - vesicle associated membrane protein 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：囊泡相关膜蛋白 1

种属: Homo sapiens

同用名: SYB1; CMS25; SPAX1; VAMP-1

基因 ID: 6843 | 基因类型: protein coding

关于 VAMP1

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,462,237-6,470,677 (from NCBI)

This gene has 8 transcripts (splice variants), 126 orthologues, 10 paralogues and is associated with 4 phenotypes. Broad expression in bone marrow (RPKM 21.7), lymph node (RPKM 20.9) and 23 other tissues.

功能概要

Synapotobrevins、突触融合蛋白和突触体相关蛋白 SNAP25 是参与突触小泡与突触前膜对接和/或融合的蛋白复合物的主要成分。该基因编码的蛋白质是囊泡相关膜蛋白 (VAMP) /synaptobrevin 家族的成员。该基因的突变与常染色体显性痉挛性共济失调 1 相关。已描述了多种可变剪接变体，但尚未定义某些变体的全长性质。[RefSeq 提供，2014 年 7 月]

Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014]

VAMP1 基因产物(4)

mRNA Protein Name
NM_001297438.2 NP_001284367.1 vesicle-associated membrane protein 1 isoform 4
NM_014231.5 NP_055046.1 vesicle-associated membrane protein 1 isoform 1
NM_016830.4 NP_058439.1 vesicle-associated membrane protein 1 isoform 3
NM_199245.3 NP_954740.1 vesicle-associated membrane protein 1 isoform 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
9920726 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
NOT located in azurophil granule membrane IDA
IDA: 通过直接分析推断
11391393 GOA
NOT located in cytosol IDA
IDA: 通过直接分析推断
11391393 GOA
located in specific granule membrane IDA
IDA: 通过直接分析推断
11391393 GOA
located in tertiary granule membrane IDA
IDA: 通过直接分析推断
11391393 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

VAMP1 蛋白结构

Synaptobrevin

Synaptobrevin: Synaptobrevin (30 - 117)

  • 0
  • 100
  • 118 a.a.
蛋白主名 其他名称

vesicle-associated membrane protein 1

vesicle-associated membrane protein 1 (synaptobrevin 1)

VAMP1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra VAMP1 P23763 SNAP29 Homo sapiens O95721
Y2H Prey Pooling
25416956
Intra VAMP1 P23763 SNAP29 Homo sapiens O95721
Validated Y2H
25416956
Intra VAMP1 P23763 STX4 Homo sapiens Q12846
Validated Y2H
25416956
Intra VAMP1 P23763 STX4 Homo sapiens Q12846
Y2H Array
25416956
Intra VAMP1 P23763 STX4 Homo sapiens Q12846
Y2H Prey Pooling
25416956
Intra VAMP1 P23763 KASH5 Homo sapiens Q8N6L0
Validated Y2H
25416956
Intra VAMP1 P23763 KASH5 Homo sapiens Q8N6L0
Y2H Prey Pooling
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Spastic Ataxia 1, Autosomal Dominant

SPAX1

Ataxia, Spastic, 1, Autosomal Dominant

Autosomal Dominant Spastic Ataxia Type 1

Ataxia, Spastic, Type 1, Autosomal Dominant
Myasthenic Syndrome, Congenital, 25, Presynaptic

CMS25

Myasthenic Syndrome, Congenital, 25
Spastic Ataxia 1
Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia
Presynaptic Congenital Myasthenic Syndromes

Presynaptic Congenital Myasthenic Syndrome

Congenital Myasthenic Syndromes, Presynaptic
Autosomal Dominant Spastic Ataxia

Ad-Spax
Spastic Ataxia

Spax

Ataxia, Spastic
Foodborne Botulism

Botulism

Botulism Poisoning

Intoxication With Clostridium Botulinum Toxin

Wound Botulism

Food Poisoning Due To Clostridium Botulinum

Infection Due To Clostridium Botulinum

Infant Botulism

Intoxication Botulism

Botulism, Infantile

Clostridium Botulinum Poisoning

Botulism Nos
Infant Botulism

Infant Intestinal Botulism

Infant Intestinal Toxemia Botulism

Infant Intestinal Toxin-Mediated Botulism

Infantile Botulism

Botulism, Infantile
Intermittent Squint

Intermittent Heterotropia

Intermittent Tropia
Wound Botulism

Cutaneous Infectious Botulism

Cutaneous Toxin-Mediated Botulism

Inoculation Botulism

Skin Infectious Botulism

Skin Toxin-Mediated Botulism
Tetanus Neonatorum

Neonatal Tetanus

NNT

Trismus Neonatorum

Newborn Trismus
Spinocerebellar Ataxia, Autosomal Recessive 23

SCAR23

Autosomal Recessive Spinocerebellar Ataxia 23

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency

Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome Due To Tud Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 23

Spinocerebellar Ataxia, Autosomal Recessive, 23

Ataxia, Spinocerebellar, Autosomal Recessive, Type 23
Chief Cell Adenoma

Chief Cell Adenoma Of Parathyroid Gland
Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome

Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome

Vps45 Deficiency

Scn5
Neuromuscular Junction Disease

Neuromuscular Junction Diseases
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15593 VAMP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus VAMP1 RGD RGD:3948
Canis familiaris VAMP1 VGNC VGNC:54386
Mus musculus VAMP1 MGD MGI:1313276
Bos taurus VAMP1 VGNC VGNC:36756
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