RAB3B - RAB3B, member RAS oncogene family Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5865

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_002867.4 NP_002858.2 ras-related protein Rab-3B
Molecular Function GO Annotation Evidence References Source
enables GDP binding IDA
IDA: Inferred from direct assay
22321395 GOA
enables GTPase activity IDA
IDA: Inferred from direct assay
24891604 GOA
enables myosin V binding IPI
IPI: Inferred from physical interaction
24006491 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
24891604 GOA
Biological Process GO Annotation Evidence References Source
involved in antigen processing and presentation IMP
IMP: Inferred from mutant phenotype
19717423 GOA
involved in positive regulation of dopamine uptake involved in synaptic transmission IDA
IDA: Inferred from direct assay
20007772 GOA
involved in regulation of synaptic vesicle cycle IDA
IDA: Inferred from direct assay
20007772 GOA
involved in regulation of synaptic vesicle cycle IMP
IMP: Inferred from mutant phenotype
20007772 GOA
involved in regulation of vesicle size IDA
IDA: Inferred from direct assay
20007772 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
20807725 GOA
is active in dopaminergic synapse IDA
IDA: Inferred from direct assay
20007772 GOA
is active in dopaminergic synapse IMP
IMP: Inferred from mutant phenotype
20007772 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
19717423 GOA
is active in synaptic vesicle membrane IDA
IDA: Inferred from direct assay
20007772 GOA
is active in synaptic vesicle membrane IMP
IMP: Inferred from mutant phenotype
20007772 GOA
located in vesicle IDA
IDA: Inferred from direct assay
19717423 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

RAB3B Protein Structure

Ras

Ras: Ras family (24 - 183)

  • 0
  • 100
  • 200
  • 219 a.a.
Protein Preferred Names Protein Names

ras-related protein Rab-3B

  • brain antigen RAB3B

RAB3B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RAB3B P20337 VRTN Homo sapiens Q9H8Y1 32296183
Intra
RAB3B P20337 VRTN Homo sapiens Q9H8Y1 32296183
Intra
RAB3B P20337 VRTN Homo sapiens Q9H8Y1 32296183
Intra
RAB3B P20337 RABIF Homo sapiens P47224 32296183
Intra
RAB3B P20337 RABIF Homo sapiens P47224 32296183
Intra
RAB3B P20337 RABIF Homo sapiens P47224 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source 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