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  2. RAB3A - RAB3A, member RAS oncogene family Gene

RAB3A - RAB3A, member RAS oncogene family Gene

中文名称:RAB3A,RAS 致癌基因家族成员

种属: Homo sapiens

基因 ID: 5864 | 基因类型: protein coding

关于 RAB3A

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,196,784-18,204,042 (from NCBI)

This gene has 4 transcripts (splice variants), 196 orthologues and 68 paralogues. Biased expression in brain (RPKM 78.9), heart (RPKM 7.0) and 1 other tissue.

功能概要

启用 GTPase 活性和肌球蛋白 V 结合活性。参与多个过程,包括顶体囊泡胞吐;溶酶体定位;和质膜修复。位于细胞质的核周区。 [由基因组资源联盟提供,2022 年 4 月]

Enables GTPase activity and Myosin V binding activity. Involved in several processes, including acrosomal vesicle exocytosis; lysosome localization; and plasma membrane repair. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

RAB3A 基因产物(1)

mRNA Protein Name
NM_002866.5 NP_002857.1 ras-related protein Rab-3A
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 GTPase activity IDA
IDA: 通过直接分析推断
24891604 GOA
enables GTPase activity IMP
IMP: 通过突变表型推断
10859313 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
2732579 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in acrosomal vesicle exocytosis IDA
IDA: 通过直接分析推断
22248876 GOA
involved in exocytosis IDA
IDA: 通过直接分析推断
27325790 GOA
involved in lysosome localization IMP
IMP: 通过突变表型推断
2732579 GOA
involved in plasma membrane repair IDA
IDA: 通过直接分析推断
27325790 GOA
involved in positive regulation of regulated secretory pathway IMP
IMP: 通过突变表型推断
22899725 GOA
involved in regulated exocytosis IMP
IMP: 通过突变表型推断
2732579 GOA
involved in regulation of plasma membrane repair IMP
IMP: 通过突变表型推断
2732579 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
27325790 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

RAB3A 蛋白结构

Ras

Ras: Ras family (24 - 183)

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

ras-related protein Rab-3A

RAS-associated protein RAB3A

RAB3A 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
RAB3A P20336 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
32296183
种属内
RAB3A P20336 KRTAP10-8 Homo sapiens P60410
Y2H Array
32296183
种属内
RAB3A P20336 KRTAP10-8 Homo sapiens P60410
Validated Y2H
32296183
种属内
RAB3A P20336 RAB3IP Homo sapiens Q96QF0-7
Y2H Array
32296183
种属内
RAB3A P20336 RAB3IP Homo sapiens Q96QF0-7
Y2H Prey Pooling
32296183
种属内
RAB3A P20336 RAB3IP Homo sapiens Q96QF0-7
Validated Y2H
32296183
种属内
RAB3A P20336 VRTN Homo sapiens Q9H8Y1
Y2H Prey Pooling
32296183
种属内
RAB3A P20336 VRTN Homo sapiens Q9H8Y1
Validated Y2H
32296183
种属内
RAB3A P20336 VRTN Homo sapiens Q9H8Y1
Y2H Array
32296183
种属内
RAB3A P20336 RABIF Homo sapiens P47224
Validated Y2H
25416956
种属内
RAB3A P20336 RABIF Homo sapiens P47224
Y2H Prey Pooling
32296183
种属内
RAB3A P20336 RABIF Homo sapiens P47224
Validated Y2H
32296183
种属内
RAB3A P20336 RABIF Homo sapiens P47224
Y2H Array
25416956
种属内
RAB3A P20336 RABIF Homo sapiens P47224
Y2H Array
32296183
种属内
RAB3A P20336 RAB3IL1 Homo sapiens Q8TBN0
Validated Y2H
32296183
种属内
RAB3A P20336 RAB3IL1 Homo sapiens Q8TBN0
Y2H Prey Pooling
32296183
种属内
RAB3A P20336 RAB3IL1 Homo sapiens Q8TBN0
Y2H Array
32296183
种属内
RAB3A P20336 RAB3IP Homo sapiens Q96QF0
Validated Y2H
25416956
种属内
RAB3A P20336 RAB3IP Homo sapiens Q96QF0
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
Choroideremia

CHM

Tcd

Progressive Tapetochoroidal Dystrophy

Choroidal Sclerosis

Tapetochoroidal Dystrophy, Progressive

Progressive Choroidal Atrophy

Tapetochoroidal Dystrophy

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

Non-Syndromic X-Linked Intellectual Disability 41

Mrx41

Mrx48

X-Linked Mental Retardation 48

Cone-Rod Dystrophy 7

CORD7

Dystrophy, Cone-Rod, Type 7

Retinitis Pigmentosa 7

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

Warburg Micro Syndrome 3

WARBM3

Micro Syndrome 3

Warburg Micro Syndrome 2

WARBM2

Micro Syndrome 2

Martsolf Syndrome 1

Martsolf Syndrome

Cataract-Intellectual Disability-Hypogonadism Syndrome

MARTS1

Marts

Cataract-Mental Retardation-Hypogonadism

Martsolf

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome

Cednik Syndrome

CEDNIK

Cerebral Dysgenesis, Neuropathy, Ichthyosis And Keratoderma Syndrome

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndro

Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome

Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma

Neurocutaneous Syndromes

Isolated Growth Hormone Deficiency, Type Ii

Ighd Ii

Isolated Growth Hormone Deficiency Type Ii

IGHD2

Growth Hormone Deficiency, Isolated, Type Ii

Congenital Ighd Type Ii

Congenital Isolated Gh Deficiency Type Ii

Congenital Isolated Growth Hormone Deficiency Type Ii

Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Autosomal Dominant

Growth Hormone Deficiency, Isolated, Autosomal Dominant

Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant

Autosomal Dominant Isolated Growth Hormone Deficiency

Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 2

Growth Hormone Deficiency, Isolated Autosomal Dominant

Growth Hormone Deficiency, Isolated, 2

Growth Hormone Deficiency Isolated Autosomal Dominant

Parkinson Disease 2, Autosomal Recessive Juvenile

Young-Onset Parkinson Disease

PARK2

Pdj

Autosomal Recessive Juvenile Parkinson Disease 2

Epdf

Parkinson Disease, Juvenile, Type 2

Parkinson'S Disease 2

Autosomal Recessive Juvenile Parkinson Disease

Early-Onset Parkinson Disease

Parkinson Disease 2

Parkinson Disease, Juvenile, Autosomal Recessive

Parkinsonism, Early-Onset, With Diurnal Fluctuation

Autosomal Recessive Juvenile Parkinson'S Disease 2

Jp

Juvenile Parkinsonism

Parkinson Disease Autosomal Recessive, Early Onset

Parkinsonism, Early Onset, With Diurnal Fluctuation

Yopd

Autosomal Recessive Early-Onset Parkinson Disease Type 2

Chromosome 6-Linked Autosomal Recessive Parkinsonism

Early-Onset Parkinsonism With Diurnal Fluctuation

Parkinsonism Young Adult Onset

Parkinson Disease, Type 2

Parkinsonism, Juvenile

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

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
Bos taurus RAB3A VGNC VGNC:33649
Felis catus RAB3A VGNC VGNC:97590
Mus musculus RAB3A MGD MGI:97843
Macaca mulatta RAB3A VGNC VGNC:81539
Canis familiaris RAB3A VGNC VGNC:45282
Rattus norvegicus RAB3A RGD RGD:3528