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Aliases for RAB3A Gene

Aliases for RAB3A Gene

  • RAB3A, Member RAS Oncogene Family 2 3
  • RAS-Associated Protein RAB3A 2

External Ids for RAB3A Gene

Previous GeneCards Identifiers for RAB3A Gene

  • GC19M018801
  • GC19M018699
  • GC19M018152
  • 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. Among its related pathways are Cytoskeletal Signaling and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include GTP binding and protein C-terminus binding. An important paralog of this gene is RAB37.

UniProtKB/Swiss-Prot for RAB3A Gene

  • Involved in exocytosis by regulating a late step in synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal

Gene Wiki entry for RAB3A Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB3A Gene

Genomics for RAB3A Gene

Regulatory Elements for RAB3A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RAB3A Gene

Chromosome:
19
Start:
18,196,784 bp from pter
End:
18,204,074 bp from pter
Size:
7,291 bases
Orientation:
Minus strand

Genomic View for RAB3A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • Heterodimer with RIMS2. Part of a ternary complex involving PCLO and EPAC2. Interacts with RPH3A and RPH3AL. Interacts with the exocyst complex through SEC15. Binds SYTL4 and RIMS1. Interacts with RAB3IP. Interacts with SGSM1 and SGSM3 (By similarity).

neXtProt entry for RAB3A Gene

Proteomics data for RAB3A Gene at MOPED

Post-translational modifications for RAB3A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB3A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RAB3A (Rab3A)

No data available for DME Specific Peptides for RAB3A Gene

Domains & Families for RAB3A Gene

Gene Families for RAB3A Gene

Suggested Antigen Peptide Sequences for RAB3A Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
RAB3A,Ras oncogene superfamily member,expressed synaptic vesicles, involved in calcium regulated exocytosis,expressed in parathyroid chief cells
UniProtKB/Swiss-Prot Function:
Involved in exocytosis by regulating a late step in synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal

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 IMP 10859313
GO:0005515 protein binding IPI 10859313
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

miRNA for RAB3A Gene

miRTarBase miRNAs that target RAB3A

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAB3A

In Situ Assay Products

Flow Cytometry Products

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

Localization for RAB3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB3A Gene

Cell membrane; Lipid-anchor; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB3A Gene COMPARTMENTS Subcellular localization image for RAB3A gene
Compartment Confidence
extracellular 5
endosome 3
plasma membrane 3
cytosol 2
golgi apparatus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for RAB3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005622 intracellular --
GO:0005768 endosome IBA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for RAB3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003016 respiratory system process IEA --
GO:0006886 intracellular protein transport IBA --
GO:0006904 vesicle docking involved in exocytosis IBA --
GO:0006913 nucleocytoplasmic transport --
GO:0007005 mitochondrion organization IEA --
genes like me logo Genes that share ontologies with RAB3A: view

No data available for SIGNOR curated interactions for RAB3A Gene

Drugs & Compounds for RAB3A Gene

(3) Drugs for RAB3A Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Norepinephrine Approved Pharma 206
Sucrose Experimental Pharma 0
Calcium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gdp
gtp
Partial agonist, Agonist
genes like me logo Genes that share compounds with RAB3A: view

Transcripts for RAB3A Gene

Unigene Clusters for RAB3A Gene

RAB3A, member RAS oncogene family:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAB3A

Flow Cytometry Products

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 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, PaxDb, MOPED, and MaxQB for RAB3A Gene



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
genes like me logo Genes that share expression patterns with RAB3A: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia RAB3A 35
  • 91.67 (n)
  • 98.64 (a)
RAB3A 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB3A 35
  • 93.18 (n)
  • 99.09 (a)
RAB3A 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab3a 35
  • 89.24 (n)
  • 99.09 (a)
Rab3a 16
Rab3a 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAB3A 35
  • 100 (n)
  • 100 (a)
RAB3A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab3a 35
  • 88.48 (n)
  • 99.09 (a)
oppossum
(Monodelphis domestica)
Mammalia RAB3A 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB3A 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab3a 35
  • 80.15 (n)
  • 98.18 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21346 35
zebrafish
(Danio rerio)
Actinopterygii rab3ab 35
  • 80.61 (n)
  • 94.09 (a)
rab3aa 36
  • 87 (a)
OneToMany
rab3ab 36
  • 94 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rab3 37
  • 76 (a)
Rab3 36
  • 78 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rab-3 37
  • 76 (a)
rab-3 36
  • 71 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 77 (a)
OneToMany
Species with no ortholog for RAB3A:
  • 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)

Paralogs for RAB3A Gene

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 Sequence Context AA Info Type MAF
rs1046565 -- 18,200,389(-) GGCGC(C/T)ATGGG synonymous-codon, reference
rs2271882 -- 18,198,555(+) ATGGC(A/G)AACTC intron-variant
rs2280342 -- 18,202,705(+) GACTC(C/T)TTCTG synonymous-codon, reference
rs3803919 -- 18,200,301(-) CTTTT(C/G/T)TTTTC intron-variant
rs8109807 -- 18,197,698(+) GGCCA(C/T)GCCCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3773n71 CNV Loss 21882294
nsv833775 CNV Loss 17160897
dgv3774n71 CNV Loss 21882294
nsv911254 CNV Loss 21882294
nsv911256 CNV Loss 21882294
nsv911260 CNV Loss 21882294
dgv3777n71 CNV Gain 21882294
dgv576n67 CNV Gain 20364138
nsv819691 CNV Gain 19587683
esv2718286 CNV Deletion 23290073
nsv911263 CNV Gain 21882294
nsv911264 CNV Loss 21882294

Variation tolerance for RAB3A Gene

Residual Variation Intolerance Score: 23.23% 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)

Relevant External Links for RAB3A Gene

HapMap Linkage Disequilibrium report
RAB3A

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

Disorders for RAB3A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cone-rod dystrophy
  • cone-rod dystrophy 5
- elite association
Search RAB3A in MalaCards View complete list of genes associated with diseases

Relevant External Links for RAB3A

Genetic Association Database (GAD)
RAB3A
Human Genome Epidemiology (HuGE) Navigator
RAB3A
Tumor Gene Database (TGDB):
RAB3A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB3A
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. Immunohistochemical expression of rabphilin-3A-like (Noc2) in normal and tumor tissues of human endocrine pancreas. (PMID: 19212825) Shanmugam C. … Manne U. (Biotech Histochem 2009) 23 67
  2. Epac activates the small G proteins Rap1 and Rab3A to achieve exocytosis. (PMID: 19546222) Branham M.T. … Tomes C.N. (J. Biol. Chem. 2009) 23 67
  3. Loss of SNAP-25 and rabphilin 3a in sensory-motor cortex in Huntington's disease. (PMID: 17877635) Smith R. … Li J.Y. (J. Neurochem. 2007) 23 67
  4. Membrane-permeant Rab3A triggers acrosomal exocytosis in living human sperm. (PMID: 17625073) Lopez C.I. … Mayorga L.S. (FASEB J. 2007) 23 67
  5. Glomerular podocytes contain neuron-like functional synaptic vesicles. (PMID: 16585060) Rastaldi M.P. … D'Amico G. (FASEB J. 2006) 23 67

Products for RAB3A Gene

Sources for RAB3A Gene

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