RAB3A - RAB3A, member RAS oncogene family Gene

Homo sapiens

Gene ID: 5864 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_002866.5	NP_002857.1	ras-related protein Rab-3A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTPase activity	IDA IDA: Inferred from direct assay	24891604	GOA
enables GTPase activity	IMP IMP: Inferred from mutant phenotype	10859313	GOA
enables myosin V binding	IPI IPI: Inferred from physical interaction	24006491	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	2732579	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in acrosomal vesicle exocytosis	IDA IDA: Inferred from direct assay	22248876	GOA
involved in exocytosis	IDA IDA: Inferred from direct assay	27325790	GOA
involved in lysosome localization	IMP IMP: Inferred from mutant phenotype	2732579	GOA
involved in plasma membrane repair	IDA IDA: Inferred from direct assay	27325790	GOA
involved in positive regulation of regulated secretory pathway	IMP IMP: Inferred from mutant phenotype	22899725	GOA
involved in regulated exocytosis	IMP IMP: Inferred from mutant phenotype	2732579	GOA
involved in regulation of plasma membrane repair	IMP IMP: Inferred from mutant phenotype	2732579	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	27325790	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RAB3A Protein Structure

Ras

0
100
200
220 a.a.

Protein Preferred Names

Protein Names

ras-related protein Rab-3A

RAS-associated protein RAB3A

RAB3A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RAB3A	P20336	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
Intra	RAB3A	P20336	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
Intra	RAB3A	P20336	KRTAP10-8	Homo sapiens	P60410	Validated Y2H	32296183
Intra	RAB3A	P20336	RAB3IP	Homo sapiens	Q96QF0-7	Y2H Array	32296183
Intra	RAB3A	P20336	RAB3IP	Homo sapiens	Q96QF0-7	Y2H Prey Pooling	32296183
Intra	RAB3A	P20336	RAB3IP	Homo sapiens	Q96QF0-7	Validated Y2H	32296183
Intra	RAB3A	P20336	VRTN	Homo sapiens	Q9H8Y1	Y2H Prey Pooling	32296183
Intra	RAB3A	P20336	VRTN	Homo sapiens	Q9H8Y1	Validated Y2H	32296183
Intra	RAB3A	P20336	VRTN	Homo sapiens	Q9H8Y1	Y2H Array	32296183
Intra	RAB3A	P20336	RABIF	Homo sapiens	P47224	Validated Y2H	25416956
Intra	RAB3A	P20336	RABIF	Homo sapiens	P47224	Y2H Prey Pooling	32296183
Intra	RAB3A	P20336	RABIF	Homo sapiens	P47224	Validated Y2H	32296183
Intra	RAB3A	P20336	RABIF	Homo sapiens	P47224	Y2H Array	25416956
Intra	RAB3A	P20336	RABIF	Homo sapiens	P47224	Y2H Array	32296183
Intra	RAB3A	P20336	RAB3IL1	Homo sapiens	Q8TBN0	Validated Y2H	32296183
Intra	RAB3A	P20336	RAB3IL1	Homo sapiens	Q8TBN0	Y2H Prey Pooling	32296183
Intra	RAB3A	P20336	RAB3IL1	Homo sapiens	Q8TBN0	Y2H Array	32296183
Intra	RAB3A	P20336	RAB3IP	Homo sapiens	Q96QF0	Validated Y2H	25416956
Intra	RAB3A	P20336	RAB3IP	Homo sapiens	Q96QF0	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11555	RAB3A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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