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  2. RAB3B - RAB3B, member RAS oncogene family Gene

RAB3B - RAB3B, member RAS oncogene family Gene

中文名称:RAB3B,RAS 致癌基因家族成员

种属: Homo sapiens

基因 ID: 5865 | 基因类型: protein coding

关于 RAB3B

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:51,907,956-51,990,700 (from NCBI)

This gene has 1 transcript (splice variant), 197 orthologues and 68 paralogues. Biased expression in prostate (RPKM 6.0), brain (RPKM 3.4) and 11 other tissues.

功能概要

启用 GDP 绑定活动; GTP 酶活性;和肌球蛋白 V 结合活性。参与多个过程,包括参与突触传递的多巴胺摄取的正调节;突触小泡周期的调节;和调节囊泡大小。位于细胞质和囊泡的核周区。在多巴胺能突触中活跃。是突触小泡膜的锚定成分。 [由基因组资源联盟提供,2022 年 4 月]

Enables GDP binding activity; GTPase activity; and Myosin V binding activity. Involved in several processes, including positive regulation of dopamine uptake involved in synaptic transmission; regulation of synaptic vesicle cycle; and regulation of vesicle size. Located in perinuclear region of cytoplasm and vesicle. Is active in dopaminergic synapse. Is anchored component of synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022]

RAB3B 基因产物(1)

mRNA Protein Name
NM_002867.4 NP_002858.2 ras-related protein Rab-3B
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GDP binding IDA
IDA: 通过直接分析推断
22321395 GOA
enables GTPase activity IDA
IDA: 通过直接分析推断
24891604 GOA
enables myosin V binding IPI
IPI: 通过物理相互作用推断
24006491 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24891604 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in antigen processing and presentation IMP
IMP: 通过突变表型推断
19717423 GOA
involved in positive regulation of dopamine uptake involved in synaptic transmission IDA
IDA: 通过直接分析推断
20007772 GOA
involved in regulation of synaptic vesicle cycle IDA
IDA: 通过直接分析推断
20007772 GOA
involved in regulation of synaptic vesicle cycle IMP
IMP: 通过突变表型推断
20007772 GOA
involved in regulation of vesicle size IDA
IDA: 通过直接分析推断
20007772 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
20807725 GOA
is active in dopaminergic synapse IDA
IDA: 通过直接分析推断
20007772 GOA
is active in dopaminergic synapse IMP
IMP: 通过突变表型推断
20007772 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
19717423 GOA
is active in synaptic vesicle membrane IDA
IDA: 通过直接分析推断
20007772 GOA
is active in synaptic vesicle membrane IMP
IMP: 通过突变表型推断
20007772 GOA
located in vesicle IDA
IDA: 通过直接分析推断
19717423 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

RAB3B 蛋白结构

Ras

Ras: Ras family (24 - 183)

  • 0
  • 100
  • 200
  • 219 a.a.
蛋白主名 其他名称

ras-related protein Rab-3B

brain antigen RAB3B

RAB3B 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
种属内
RAB3B P20337 VRTN Homo sapiens Q9H8Y1 32296183
种属内
RAB3B P20337 VRTN Homo sapiens Q9H8Y1 32296183
种属内
RAB3B P20337 VRTN Homo sapiens Q9H8Y1 32296183
种属内
RAB3B P20337 RABIF Homo sapiens P47224 32296183
种属内
RAB3B P20337 RABIF Homo sapiens P47224 32296183
种属内
RAB3B P20337 RABIF Homo sapiens P47224 32296183
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
Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Immunodeficiency 54

Natural Killer Cell Deficiency, Familial Isolated

Primary Immunodeficiency With Natural-Killer Cell Deficiency And Adrenal Insufficiency

IMD54

Nkcd

Natural Killer Cell And Glucocorticoid Deficiency With Dna Repair Defect

Nkgcd

Familial Isolated Natural Killer Cell Deficiency

Primary Immunodeficiency Due To Mcm4 Deficiency

Kleefstra Syndrome 1

9q Subtelomeric Deletion Syndrome

KLEFS1

Chromosome 9q34.3 Deletion Syndrome

9q- Syndrome

9q34 Deletion Syndrome

Kleefstra Syndrome Due To 9q34 Microdeletion

Kleefstra Syndrome

9q-Syndrome

9qstds

Kleefstra Syndrome Due To 9q Subtelomeric Deletion

Kleefstra Syndrome Due To Del(9)(Q34)

Kleefstra Syndrome Due To Monosomy 9q34

Chromosome 9q Subtelomeric Deletion Syndrome

Kleefstra Syndrome, Type 1

Spinal Muscular Atrophy, Type Ii

SMA2

Sma Ii

Muscular Atrophy, Spinal, Intermediate Type

Muscular Atrophy, Spinal, Infantile Chronic Form

Intermediate Spinal Muscular Atrophy

Spinal Muscular Atrophy Type Ii

Spinal Muscular Atrophy-2

Spinal Muscular Atrophy 2

Spinal Muscular Atrophy Type 2

Dubowitz Disease

Proximal Spinal Muscular Atrophy Type 2

Sma Type 2

Sma Type Ii

Sma-Ii

Spinal Muscular Atrophy Infantile Chronic Form

Spinal Muscular Atrophy Intermediate Type

Spinal Muscular Atrophies Of Childhood

Atrophy, Muscular, Spinal, Type Ii

Muscular Atrophy, Spinal, Type Ii

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
Mus musculus RAB3B MGD MGI:1917158
Bos taurus RAB3B VGNC VGNC:33650
Rattus norvegicus RAB3B RGD RGD:620922
Canis familiaris RAB3B VGNC VGNC:45283
Felis catus RAB3B VGNC VGNC:80334
Macaca mulatta RAB3B VGNC VGNC:81540