RAB3A - RAB3A, member RAS oncogene family Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5864

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	RAB3A	NCBI