Aliases for RAB3A Gene

Aliases for RAB3A Gene

  • RAB3A, Member RAS Oncogene Family 2 3 5
  • RAS-Associated Protein RAB3A 2 3
  • Ras-Related Protein Rab-3A 3 4

External Ids for RAB3A Gene

Previous GeneCards Identifiers for RAB3A Gene

  • GC19M018801
  • GC19M018699
  • GC19M018152
  • GC19M018168
  • GC19M018307
  • GC19M017871

Summaries for RAB3A Gene

GeneCards Summary for RAB3A Gene

RAB3A (RAB3A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB3A include Cone-Rod Dystrophy 7 and Isolated Growth Hormone Deficiency, Type Ii. Among its related pathways are Vesicle-mediated transport and Neurotransmitter Release Cycle. Gene Ontology (GO) annotations related to this gene include GTP binding and protein C-terminus binding. An important paralog of this gene is RAB3C.

UniProtKB/Swiss-Prot Summary for RAB3A Gene

  • Small GTP-binding protein that plays a central role in regulated exocytosis and secretion. Controls the recruitment, tethering and docking of secretory vesicles to the plasma membrane (By similarity). Upon stimulation, switches to its active GTP-bound form, cycles to vesicles and recruits effectors such as RIMS1, RIMS2, Rabphilin-3A/RPH3A, RPH3AL or SYTL4 to help the docking of vesicules onto the plasma membrane (By similarity). Upon GTP hydrolysis by GTPase-activating protein, dissociates from the vesicle membrane allowing the exocytosis to proceed (By similarity). Stimulates insulin secretion through interaction with RIMS2 or RPH3AL effectors in pancreatic beta cells (By similarity). Regulates calcium-dependent lysosome exocytosis and plasma membrane repair (PMR) via the interaction with 2 effectors, SYTL4 and myosin-9/MYH9 (PubMed:27325790). Acts as a positive regulator of acrosome content secretion in sperm cells by interacting with RIMS1 (PubMed:22248876, PubMed:30599141). Plays also a role in the regulation of dopamine release by interacting with synaptotagmin I/SYT (By similarity).

Gene Wiki entry for RAB3A Gene

Additional gene information for RAB3A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB3A Gene

Genomics for RAB3A Gene

GeneHancer (GH) Regulatory Elements for RAB3A Gene

Promoters and enhancers for RAB3A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J018202 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 -1.8 -1780 6.5 SP1 CTCF SMARCE1 USF2 ATF1 FOS CREB1 CC2D1A NFYC ZNF701 ENSG00000268650 LOC102725254 RAB3A piR-34822-156 lnc-PDE4C-1 UPF1 ENSG00000268030 IQCN ENSG00000268938 COLGALT1
GH19J018414 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.2 -214.6 -214561 9.3 ZNF785 ZBTB40 CTCF ZBTB6 MLX SMARCE1 USF2 NR2F1 NR2F6 ZNF362 SSBP4 NONHSAG025131.2 ENSG00000268030 NR2C2AP UPF1 COLGALT1 MAU2 ENSG00000268938 IQCN RPL18A
GH19J017333 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.1 +868.0 867981 6.2 GTF3C2 ZNF785 ZNF24 SP1 ZBTB40 SIX5 ZBTB6 FOXA1 SMARCE1 POLR2A GTPBP3 ANO8 HSALNG0124507 lnc-DDA1-1 CHERP ENSG00000269578 ENSG00000268743 C19orf44 IQCN SIN3B
GH19J018150 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.3 +49.3 49337 8.1 ZNF24 SP1 ZBTB40 CTCF FOXA1 SMARCE1 POLR2A USF2 NR2F6 ZNF362 ENSG00000268173 PIK3R2 piR-59059 ENSG00000268030 UPF1 ENSG00000268938 COLGALT1 IQCN PLVAP ENSG00000269191
GH19J019058 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.1 -858.5 -858453 7.3 ZBTB40 SP1 CTCF RBPJ SMARCE1 POLR2A CEBPZ FOS CREB1 RUNX1 SLC25A42 piR-55985-094 UPF1 ENSG00000268938 ENSG00000268030 MAU2 ATP13A1 NR2C2AP IQCN ELL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB3A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB3A gene promoter:
  • GCNF
  • GCNF-1
  • GCNF-2
  • HOXA5
  • ISGF-3
  • LCR-F1
  • MEF-2A
  • Pax-2
  • Pax-2a
  • RSRFC4

Genomic Locations for RAB3A Gene

Genomic Locations for RAB3A Gene
chr19:18,196,784-18,204,074
(GRCh38/hg38)
Size:
7,291 bases
Orientation:
Minus strand
chr19:18,307,594-18,314,884
(GRCh37/hg19)
Size:
7,291 bases
Orientation:
Minus strand

Genomic View for RAB3A Gene

Genes around RAB3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB3A Gene

Proteins for RAB3A Gene

  • Protein details for RAB3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20336-RAB3A_HUMAN
    Recommended name:
    Ras-related protein Rab-3A
    Protein Accession:
    P20336
    Secondary Accessions:
    • A8K0J4
    • Q9NYE1

    Protein attributes for RAB3A Gene

    Size:
    220 amino acids
    Molecular mass:
    24984 Da
    Quaternary structure:
    • Interacts with RIMS1 and RIMS2 (By similarity). Interacts with Rabphilin-3A/RPH3A and Rab effector Noc2/RPH3AL (By similarity). Interacts with SYTL4 (By similarity). Interacts with RAB3IP (By similarity). Interacts with SGSM1 and SGSM3 (By similarity). Interacts with SYT1 (By similarity). Interacts with MYH9; this interaction is essential for lysosome exocytosis and plasma membrane repair (PubMed:27325790). Interacts with STXBP1; this interaction promotes RAB3A dissociation from the vesicle membrane (By similarity). Interacts with SNCA (PubMed:15207266). Interacts with GDI1, GDI2, CHM and CHML; phosphorylation at Thr-86 disrupts these interactions (PubMed:29125462).

neXtProt entry for RAB3A Gene

Post-translational modifications for RAB3A Gene

  • Phosphorylation of Thr-86 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB3A Gene

No data available for DME Specific Peptides for RAB3A Gene

Domains & Families for RAB3A Gene

Gene Families for RAB3A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB3A Gene

Suggested Antigen Peptide Sequences for RAB3A Gene

GenScript: Design optimal peptide antigens:
  • Ras-related protein Rab-3A (RAB3A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20336

UniProtKB/Swiss-Prot:

RAB3A_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB3A: view

Function for RAB3A Gene

Molecular function for RAB3A Gene

UniProtKB/Swiss-Prot Function:
Small GTP-binding protein that plays a central role in regulated exocytosis and secretion. Controls the recruitment, tethering and docking of secretory vesicles to the plasma membrane (By similarity). Upon stimulation, switches to its active GTP-bound form, cycles to vesicles and recruits effectors such as RIMS1, RIMS2, Rabphilin-3A/RPH3A, RPH3AL or SYTL4 to help the docking of vesicules onto the plasma membrane (By similarity). Upon GTP hydrolysis by GTPase-activating protein, dissociates from the vesicle membrane allowing the exocytosis to proceed (By similarity). Stimulates insulin secretion through interaction with RIMS2 or RPH3AL effectors in pancreatic beta cells (By similarity). Regulates calcium-dependent lysosome exocytosis and plasma membrane repair (PMR) via the interaction with 2 effectors, SYTL4 and myosin-9/MYH9 (PubMed:27325790). Acts as a positive regulator of acrosome content secretion in sperm cells by interacting with RIMS1 (PubMed:22248876, PubMed:30599141). Plays also a role in the regulation of dopamine release by interacting with synaptotagmin I/SYT (By similarity).
GENATLAS Biochemistry:
RAB3A,Ras oncogene superfamily member,expressed synaptic vesicles, involved in calcium regulated exocytosis,expressed in parathyroid chief cells

Phenotypes From GWAS Catalog for RAB3A Gene

Gene Ontology (GO) - Molecular Function for RAB3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity IEA --
GO:0003924 GTPase activity IEA,IMP 10859313
GO:0005515 protein binding IPI 2732579
GO:0005525 GTP binding IEA --
GO:0008022 protein C-terminus binding IEA --
genes like me logo Genes that share ontologies with RAB3A: view
genes like me logo Genes that share phenotypes with RAB3A: view

Animal Models for RAB3A Gene

MGI Knock Outs for RAB3A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB3A

Clone Products

  • Addgene plasmids for RAB3A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB3A Gene

Localization for RAB3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB3A Gene

Cytoplasm, cytosol. Lysosome. Cytoplasmic vesicle, secretory vesicle. Cell membrane; Lipid-anchor; Cytoplasmic side. Note=Cycles between a vesicle-associated GTP-bound form and a cytosolic GDP-bound form. {ECO:0000250 UniProtKB:P63012}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB3A gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 3
endosome 3
lysosome 3
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
GO:0005768 endosome IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RAB3A: view

Pathways & Interactions for RAB3A Gene

genes like me logo Genes that share pathways with RAB3A: view

Pathways by source for RAB3A Gene

1 Qiagen pathway for RAB3A Gene
  • Epithelial Tight Junctions
1 Cell Signaling Technology pathway for RAB3A Gene

SIGNOR curated interactions for RAB3A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RAB3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001778 plasma membrane repair IDA 27325790
GO:0003016 respiratory system process IEA --
GO:0006886 intracellular protein transport IBA 21873635
GO:0006887 exocytosis IEA,IDA 27325790
GO:0006904 vesicle docking involved in exocytosis IBA 21873635
genes like me logo Genes that share ontologies with RAB3A: view

Drugs & Compounds for RAB3A Gene

(3) Drugs for RAB3A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for RAB3A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAB3A: view

Transcripts for RAB3A Gene

mRNA/cDNA for RAB3A Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB3A

Clone Products

  • Addgene plasmids for RAB3A

Alternative Splicing Database (ASD) splice patterns (SP) for RAB3A Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b
SP1: - -
SP2: - - -
SP3: -
SP4: -

Relevant External Links for RAB3A Gene

GeneLoc Exon Structure for
RAB3A
ECgene alternative splicing isoforms for
RAB3A

Expression for RAB3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAB3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB3A Gene

This gene is overexpressed in Brain - Cortex (x7.3), Brain - Frontal Cortex (BA9) (x6.9), Brain - Anterior cingulate cortex (BA24) (x5.8), and Brain - Hippocampus (x4.4).

Protein differential expression in normal tissues from HIPED for RAB3A Gene

This gene is overexpressed in Brain (31.7), Frontal cortex (13.2), and Retina (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB3A Gene



NURSA nuclear receptor signaling pathways regulating expression of RAB3A Gene:

RAB3A

SOURCE GeneReport for Unigene cluster for RAB3A Gene:

Hs.27744

mRNA Expression by UniProt/SwissProt for RAB3A Gene:

P20336-RAB3A_HUMAN
Tissue specificity: Specifically expressed in brain.

Evidence on tissue expression from TISSUES for RAB3A Gene

  • Nervous system(4.9)
  • Lung(4.2)
  • Adrenal gland(2.6)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with RAB3A: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB3A Gene

Orthologs for RAB3A Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB3A 33 32
  • 100 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB3A 33
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB3A 33
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB3A 33 32
  • 93.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAB3A 33 32
  • 91.67 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rab3a 17 33 32
  • 89.24 (n)
rat
(Rattus norvegicus)
Mammalia Rab3a 32
  • 88.48 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia rab3a 32
  • 80.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21346 32
zebrafish
(Danio rerio)
Actinopterygii rab3aa 33
  • 87 (a)
OneToMany
rab3ab 33 32
  • 80.61 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rab3 33 34
  • 78 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rab-3 33 34
  • 71 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 77 (a)
OneToMany
Species where no ortholog for RAB3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAB3A Gene

ENSEMBL:
Gene Tree for RAB3A (if available)
TreeFam:
Gene Tree for RAB3A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB3A: view image

Paralogs for RAB3A Gene

genes like me logo Genes that share paralogs with RAB3A: view

Variants for RAB3A Gene

Sequence variations from dbSNP and Humsavar for RAB3A Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000267232 -- 18,201,800(-) G/T intron_variant
rs1000344399 -- 18,201,728(-) C/T intron_variant
rs1000599656 -- 18,200,150(-) G/C/T intron_variant
rs1001180638 -- 18,202,146(-) T/C intron_variant
rs1001621223 -- 18,196,433(-) A/C downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RAB3A Gene

Variant ID Type Subtype PubMed ID
dgv576n67 CNV gain 20364138
esv2718286 CNV deletion 23290073
esv3643833 CNV loss 21293372
esv3643834 CNV gain 21293372
nsv1071516 CNV deletion 25765185
nsv819691 CNV gain 19587683
nsv833775 CNV loss 17160897
nsv952420 CNV deletion 24416366

Variation tolerance for RAB3A Gene

Residual Variation Intolerance Score: 23.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB3A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB3A Gene

Disorders for RAB3A Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAB3A Gene - From: DISEASES

Disorder Aliases PubMed IDs
cone-rod dystrophy 7
  • cord7
isolated growth hormone deficiency, type ii
  • ighd2
- elite association - COSMIC cancer census association via MalaCards
Search RAB3A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB3A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAB3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB3A Gene

Publications for RAB3A Gene

  1. Abnormal alpha-synuclein interactions with rab3a and rabphilin in diffuse Lewy body disease. (PMID: 15207266) Dalfó E … Ferrer I (Neurobiology of disease 2004) 3 4 23 56
  2. Rab geranylgeranyl transferase catalyzes the geranylgeranylation of adjacent cysteines in the small GTPases Rab1A, Rab3A, and Rab5A. (PMID: 7991565) Farnsworth CC … Glomset JA (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 23 56
  3. Isoprenoid modification of rab proteins terminating in CC or CXC motifs. (PMID: 1648736) Khosravi-Far R … Der CJ (Proceedings of the National Academy of Sciences of the United States of America 1991) 3 4 23 56
  4. A Rab3a-dependent complex essential for lysosome positioning and plasma membrane repair. (PMID: 27325790) Encarnação M … Vieira OV (The Journal of cell biology 2016) 3 4 56
  5. RIM, Munc13, and Rab3A interplay in acrosomal exocytosis. (PMID: 22248876) Bello OD … Michaut MA (Experimental cell research 2012) 3 4 56

Products for RAB3A Gene

Sources for RAB3A Gene