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Aliases for RAB3A Gene

Aliases for RAB3A Gene

  • RAB3A, Member RAS Oncogene Family 2 3 5
  • 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 Growth Hormone Deficiency, Isolated, Type Ii. Among its related pathways are Innate Immune System and Neurotransmitter Release Cycle. 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 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 , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB3A Gene

Genomics for RAB3A Gene

Regulatory Elements for RAB3A Gene

Enhancers for RAB3A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G018289 2.1 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -88.2 -88163 6.1 CREB3L1 AGO1 ZFP64 YBX1 DMAP1 YY1 ZNF143 ZNF548 SP3 TBX21 ENSG00000268030 UPF1 ENSG00000268938 ENSG00000269439 MVB12A KIAA1683 JUND COLGALT1 ENSG00000269191 ENSG00000269815
GH19G017841 1.2 ENCODE dbSUPER 7 +361.8 361760 2.5 HDGF PKNOX1 ATF1 CREB3L1 SIN3A ZNF2 GLIS2 ZNF143 KLF7 ZNF263 INSL3 RAB3A JAK3 GC19M017837
GH19G018603 1.6 FANTOM5 Ensembl ENCODE 1.7 -404.6 -404641 11.1 ATF1 ARID4B DMAP1 ZNF2 ZNF48 ETS1 GLIS2 ZNF263 SP3 SP5 UBA52 CRLF1 C19orf60 TMEM59L KLHL26 SSBP4 KXD1 CRTC1 GDF1 RAB3A
GH19G018202 0.7 ENCODE dbSUPER 0.7 +1.4 1407 0.1 ZNF121 CTCF MLLT1 RAB3A MPV17L2
GH19G018191 1.2 ENCODE 0.4 +10.7 10699 4.1 CREB3L1 MLX AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ENSG00000268030 PDE4C COLGALT1 UPF1 MVB12A ENSG00000268938 ENSG00000269191 PLVAP KXD1 RFXANK
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAB3A on UCSC Golden Path with GeneCards custom track

Promoters for RAB3A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000108027 -526 2001 HDGF PKNOX1 FOXA2 MLX SIN3A ARID4B ZNF2 YY1 ZNF143 ZNF207

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

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:
    • 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

Post-translational modifications for RAB3A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB3A Gene

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

Protein Domains 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 TAS,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

CRISPR Products

miRNA for RAB3A Gene

miRTarBase miRNAs that target RAB3A

Inhibitory RNA Products

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

Cell membrane; Lipid-anchor; Cytoplasmic side.

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
plasma membrane 5
extracellular 5
cytosol 5
cytoskeleton 3
endosome 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for RAB3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005622 intracellular IEA --
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
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

Gene Ontology (GO) - Biological Process for RAB3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003016 respiratory system process IEA --
GO:0006810 transport IEA --
GO:0006887 exocytosis IEA --
GO:0007005 mitochondrion organization IEA --
GO:0007264 small GTPase mediated signal transduction 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

(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

Unigene Clusters for RAB3A Gene

RAB3A, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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

Primer Products

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 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia RAB3A 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB3A 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB3A 34 35
  • 93.18 (n)
cow
(Bos Taurus)
Mammalia RAB3A 34 35
  • 91.67 (n)
mouse
(Mus musculus)
Mammalia Rab3a 34 16 35
  • 89.24 (n)
rat
(Rattus norvegicus)
Mammalia Rab3a 34
  • 88.48 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia rab3a 34
  • 80.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21346 34
zebrafish
(Danio rerio)
Actinopterygii rab3aa 35
  • 87 (a)
OneToMany
rab3ab 34 35
  • 80.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rab3 36 35
  • 76 (a)
worm
(Caenorhabditis elegans)
Secernentea rab-3 36 35
  • 76 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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
rs1000267232 -- 18,201,800(+) GGAGA(G/T)AATTT intron-variant
rs1000344399 -- 18,201,728(+) AATAA(C/T)GGTAT intron-variant
rs1000599656 -- 18,200,150(+) TGGTG(C/G/T)TATAT intron-variant
rs1001180638 -- 18,202,146(+) AAGAA(C/T)GGTTT intron-variant
rs1001621223 -- 18,196,433(+) CTGGG(A/C)CTAAG intron-variant, downstream-variant-500B, utr-variant-3-prime

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)

Relevant External Links for RAB3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
growth hormone deficiency, isolated, type ii
  • isolated growth hormone deficiency, type ii
- elite association - COSMIC cancer census association via MalaCards
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. Rab geranylgeranyl transferase catalyzes the geranylgeranylation of adjacent cysteines in the small GTPases Rab1A, Rab3A, and Rab5A. (PMID: 7991565) Farnsworth C.C. … Glomset J.A. (Proc. Natl. Acad. Sci. U.S.A. 1994) 3 4 22 64
  2. Isoprenoid modification of rab proteins terminating in CC or CXC motifs. (PMID: 1648736) Khosravi-Far R. … Der C.J. (Proc. Natl. Acad. Sci. U.S.A. 1991) 3 4 22 64
  3. Epac activates the small G proteins Rap1 and Rab3A to achieve exocytosis. (PMID: 19546222) Branham M.T. … Tomes C.N. (J. Biol. Chem. 2009) 3 22 64
  4. Membrane-permeant Rab3A triggers acrosomal exocytosis in living human sperm. (PMID: 17625073) Lopez C.I. … Mayorga L.S. (FASEB J. 2007) 3 22 64
  5. Variants in the RAB3A gene are not associated with mental retardation in the Chinese population. (PMID: 16584842) Sun Y. … He L. (Neurosci. Lett. 2006) 3 46 64

Products for RAB3A Gene

  • Addgene plasmids for RAB3A

Sources for RAB3A Gene

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