RAB3A RAB3A, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB3Aprovided by HGNC
Official Full Name: RAB3A, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:9777
See related: Ensembl:ENSG00000105649 MIM:179490; AllianceGenome:HGNC:9777
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression: Biased expression in brain (RPKM 78.9), heart (RPKM 7.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (18196784..18204042, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (18330909..18338143, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (18307594..18314852, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RAB3 phosphorylation by pathogenic LRRK2 impairs trafficking of synaptic vesicle precursors.
Title: RAB3 phosphorylation by pathogenic LRRK2 impairs trafficking of synaptic vesicle precursors.
Molecular and functional interactions of alpha-synuclein with Rab3a.
Title: Molecular and functional interactions of alpha-synuclein with Rab3a.
Unveiling the interaction between the molecular motor Myosin Vc and the small GTPase Rab3A.
Title: Unveiling the interaction between the molecular motor Myosin Vc and the small GTPase Rab3A.
Rab27/Rabphilin3a/GRAB/Rab3 constitutes a signaling module in sperm exocytosis.
Title: Grab recruitment by Rab27A-Rabphilin3a triggers Rab3A activation in human sperm exocytosis.
Rab3A-22A blocks exocytosis at a stage downstream intra-acrosomal calcium release.
Title: The Rab3A-22A Chimera Prevents Sperm Exocytosis by Stabilizing Open Fusion Pores.
Rab3a accelerates cell proliferation by increasing cyclin D1 expression, enhances anti-cancer drug resistance, and increases tumorigenicity and self-renewal of glioma cells.
Title: Rab3a promotes brain tumor initiation and progression.
Data indicate that exocytic stimuli promote ADP ribosylation factor 6 (ARF6) activation, which accomplishes exocytosis by stimulating Rab3A GTP-Binding Protein.
Title: ADP ribosylation factor 6 (ARF6) promotes acrosomal exocytosis by modulating lipid turnover and Rab3A activation.
Five compounds which possess good inhibitory activity and may act as potential high affinity inhibitors against Rab3A active site were identified
Title: 3D structure generation, virtual screening and docking of human Ras-associated binding (Rab3A) protein involved in tumourigenesis.
alpha-Synuclein membrane association is regulated by the Rab3a recycling machinery and presynaptic activity
Title: α-Synuclein membrane association is regulated by the Rab3a recycling machinery and presynaptic activity.
Rab27 and Rab3 sequentially regulate human sperm dense-core granule exocytosis.
Title: Rab27 and Rab3 sequentially regulate human sperm dense-core granule exocytosis.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The gene expression of RAB3A is significantly upregulated in both clade B and clade C Tat treated SK-N-MC neuroblastoma cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-22566 (e-PCR)
- UniSTS:44125

STS-H95222 (e-PCR)
- UniSTS:19828

RAB3A_1804 (e-PCR)
- UniSTS:277641

RH71434 (e-PCR)
- UniSTS:73158

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTP-dependent protein binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables myosin V binding	IBA Inferred from Biological aspect of Ancestor more info
enables myosin V binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in acrosomal vesicle exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in axonogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium-ion regulated exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in constitutive secretory pathway	TAS Traceable Author Statement more info	PubMed
involved_in evoked neurotransmitter secretion	IEA Inferred from Electronic Annotation more info
involved_in exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in lung development	IEA Inferred from Electronic Annotation more info
involved_in lysosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in plasma membrane repair	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of exocytosis	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of regulated secretory pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in protein secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulated exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of plasma membrane repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of presynaptic dense core granule exocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of short-term neuronal synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synaptic vesicle fusion to presynaptic active zone membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in respiratory system process	IEA Inferred from Electronic Annotation more info
involved_in response to electrical stimulus	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of touch	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle clustering	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle maturation	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle recycling	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in clathrin-sculpted acetylcholine transport vesicle membrane	TAS Traceable Author Statement more info
located_in clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS Traceable Author Statement more info
located_in clathrin-sculpted glutamate transport vesicle membrane	TAS Traceable Author Statement more info
located_in clathrin-sculpted monoamine transport vesicle membrane	TAS Traceable Author Statement more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular vesicle	HDA more info	PubMed
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynapse	ISS Inferred from Sequence or Structural Similarity more info
located_in presynapse	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic active zone	ISS Inferred from Sequence or Structural Similarity more info
located_in secretory granule membrane	TAS Traceable Author Statement more info
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in terminal bouton	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ras-related protein Rab-3A

Names: RAS-associated protein RAB3A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.