Human Gene RAB3A (ENST00000222256.9) from GENCODE V44
  Description: Homo sapiens RAB3A, member RAS oncogene family (RAB3A), mRNA. (from RefSeq NM_002866)
Gencode Transcript: ENST00000222256.9
Gencode Gene: ENSG00000105649.10
Transcript (Including UTRs)
   Position: hg38 chr19:18,196,784-18,204,042 Size: 7,259 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr19:18,197,470-18,202,740 Size: 5,271 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:18,196,784-18,204,042)mRNA (may differ from genome)Protein (220 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RAB3A_HUMAN
DESCRIPTION: RecName: Full=Ras-related protein Rab-3A;
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.
SUBUNIT: Heterodimer with RIMS2. Part of a ternary complex involving PCLO and EPAC2. Interacts with RPH3A. Interacts with the exocyst complex through SEC15. Binds SYTL4, RIMS1 and RIMS2. Interacts with RAB3IP. Interacts with SGSM1 and SGSM3 (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential).
TISSUE SPECIFICITY: Specifically expressed in brain.
SIMILARITY: Belongs to the small GTPase superfamily. Rab family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RAB3A
Diseases sorted by gene-association score: growth hormone deficiency, isolated, type ii (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 219.82 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 1506.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -53.90147-0.367 Picture PostScript Text
3' UTR -221.94686-0.324 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005225 - Small_GTP-bd_dom
IPR001806 - Small_GTPase
IPR003579 - Small_GTPase_Rab_type

Pfam Domains:
PF00071 - Ras family

ModBase Predicted Comparative 3D Structure on P20336
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0001671 ATPase activator activity
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0008022 protein C-terminus binding
GO:0030742 GTP-dependent protein binding
GO:0031489 myosin V binding
GO:0051021 GDP-dissociation inhibitor binding
GO:0051117 ATPase binding

Biological Process:
GO:0003016 respiratory system process
GO:0006887 exocytosis
GO:0007005 mitochondrion organization
GO:0007274 neuromuscular synaptic transmission
GO:0007409 axonogenesis
GO:0009791 post-embryonic development
GO:0014047 glutamate secretion
GO:0015031 protein transport
GO:0016079 synaptic vesicle exocytosis
GO:0016188 synaptic vesicle maturation
GO:0017157 regulation of exocytosis
GO:0030324 lung development
GO:0031630 regulation of synaptic vesicle fusion to presynaptic membrane
GO:0032781 positive regulation of ATPase activity
GO:0036465 synaptic vesicle recycling
GO:0043312 neutrophil degranulation
GO:0043687 post-translational protein modification
GO:0045054 constitutive secretory pathway
GO:0045921 positive regulation of exocytosis
GO:0048172 regulation of short-term neuronal synaptic plasticity
GO:0048790 maintenance of presynaptic active zone structure
GO:0050975 sensory perception of touch
GO:0051602 response to electrical stimulus
GO:0061670 evoked neurotransmitter secretion
GO:1903307 positive regulation of regulated secretory pathway

Cellular Component:
GO:0001669 acrosomal vesicle
GO:0005768 endosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0008021 synaptic vesicle
GO:0016020 membrane
GO:0030424 axon
GO:0030667 secretory granule membrane
GO:0032991 macromolecular complex
GO:0043195 terminal bouton
GO:0043229 intracellular organelle
GO:0060201 clathrin-sculpted acetylcholine transport vesicle membrane
GO:0060203 clathrin-sculpted glutamate transport vesicle membrane
GO:0061202 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane
GO:0070083 clathrin-sculpted monoamine transport vesicle membrane
GO:0098993 anchored component of synaptic vesicle membrane
GO:1903561 extracellular vesicle


-  Descriptions from all associated GenBank mRNAs
  LF208135 - JP 2014500723-A/15638: Polycomb-Associated Non-Coding RNAs.
MA443712 - JP 2018138019-A/15638: Polycomb-Associated Non-Coding RNAs.
LF213748 - JP 2014500723-A/21251: Polycomb-Associated Non-Coding RNAs.
MA449325 - JP 2018138019-A/21251: Polycomb-Associated Non-Coding RNAs.
BC011782 - Homo sapiens RAB3A, member RAS oncogene family, mRNA (cDNA clone MGC:19494 IMAGE:3939176), complete cds.
X13900 - H.sapiens mRNA for ras-related Hrab3A protein.
JD329608 - Sequence 310632 from Patent EP1572962.
JD382287 - Sequence 363311 from Patent EP1572962.
JD341651 - Sequence 322675 from Patent EP1572962.
AK289559 - Homo sapiens cDNA FLJ75902 complete cds, highly similar to Homo sapiens RAB3A, member RAS oncogene family (RAB3A), mRNA.
JD428527 - Sequence 409551 from Patent EP1572962.
JD467593 - Sequence 448617 from Patent EP1572962.
JD495013 - Sequence 476037 from Patent EP1572962.
AK293467 - Homo sapiens cDNA FLJ59582 complete cds, highly similar to Ras-related protein Rab-3A.
JD128711 - Sequence 109735 from Patent EP1572962.
AF254795 - Homo sapiens GTP-binding protein RAB3A mRNA, complete cds.
M28210 - Homo sapiens GTP-binding protein (RAB3A) mRNA, complete cds.
JD442722 - Sequence 423746 from Patent EP1572962.
JD252172 - Sequence 233196 from Patent EP1572962.
AF498931 - Homo sapiens small GTP binding protein RAB3A (RAB3A) mRNA, complete cds.
EU831985 - Synthetic construct Homo sapiens clone HAIB:100067014; DKFZo008H0223 RAB3A, member RAS oncogene family protein (RAB3A) gene, encodes complete protein.
EU832078 - Synthetic construct Homo sapiens clone HAIB:100067107; DKFZo004H0224 RAB3A, member RAS oncogene family protein (RAB3A) gene, encodes complete protein.
KJ891964 - Synthetic construct Homo sapiens clone ccsbBroadEn_01358 RAB3A gene, encodes complete protein.
AB464121 - Synthetic construct DNA, clone: pF1KB8235, Homo sapiens RAB3A gene for RAB3A, member RAS oncogene family, without stop codon, in Flexi system.
LF372681 - JP 2014500723-A/180184: Polycomb-Associated Non-Coding RNAs.
MA608258 - JP 2018138019-A/180184: Polycomb-Associated Non-Coding RNAs.
LF372680 - JP 2014500723-A/180183: Polycomb-Associated Non-Coding RNAs.
MA608257 - JP 2018138019-A/180183: Polycomb-Associated Non-Coding RNAs.
LF372679 - JP 2014500723-A/180182: Polycomb-Associated Non-Coding RNAs.
MA608256 - JP 2018138019-A/180182: Polycomb-Associated Non-Coding RNAs.
JD487776 - Sequence 468800 from Patent EP1572962.
JD354705 - Sequence 335729 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_rabPathway - Rab GTPases Mark Targets In The Endocytotic Machinery

Reactome (by CSHL, EBI, and GO)

Protein P20336 (Reactome details) participates in the following event(s):

R-HSA-210430 release of L-Glutamate at the synapse
R-HSA-372529 Release of acetylcholine at the synapse
R-HSA-374899 Release of noradrenaline at the synapse
R-HSA-380869 Release of docked dopamine loaded synaptic vesicle
R-HSA-380901 Release of docked serotonin loaded synaptic vesicle
R-HSA-888589 Release of GABA at the synapse
R-HSA-6798743 Exocytosis of secretory granule membrane proteins
R-HSA-210426 Glutamate synaptic vesicle docking and priming
R-HSA-210444 L-Glutamate loading of synaptic vesicle
R-HSA-374922 Noradrenalin synaptic vesicle docking and priming
R-HSA-380574 Dopamine synaptic vesicle docking and priming
R-HSA-380905 Serotonin loaded synaptic vesicle docking and priming
R-HSA-264615 Loading of acetylcholine in synaptic vesicle
R-HSA-372505 Acetylcholine synaptic vesicle docking and priming
R-HSA-917744 GABA loaded synaptic vesicle Docking and Priming
R-HSA-8875318 RAB3 GEFs exchange GTP for GDP on RAB3A
R-HSA-8870466 RGGT:CHM binds RABs
R-HSA-8870469 RGGT geranylgeranylates RAB proteins
R-HSA-210500 Glutamate Neurotransmitter Release Cycle
R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle
R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle
R-HSA-212676 Dopamine Neurotransmitter Release Cycle
R-HSA-181429 Serotonin Neurotransmitter Release Cycle
R-HSA-888590 GABA synthesis, release, reuptake and degradation
R-HSA-6798695 Neutrophil degranulation
R-HSA-112310 Neurotransmitter release cycle
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs
R-HSA-168249 Innate Immune System
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-8873719 RAB geranylgeranylation
R-HSA-9007101 Rab regulation of trafficking
R-HSA-168256 Immune System
R-HSA-112316 Neuronal System
R-HSA-597592 Post-translational protein modification
R-HSA-199991 Membrane Trafficking
R-HSA-392499 Metabolism of proteins
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A8K0J4, ENST00000222256.1, ENST00000222256.2, ENST00000222256.3, ENST00000222256.4, ENST00000222256.5, ENST00000222256.6, ENST00000222256.7, ENST00000222256.8, NM_002866, P20336, Q9NYE1, RAB3A_HUMAN, uc002nie.1, uc002nie.2, uc002nie.3, uc002nie.4
UCSC ID: ENST00000222256.9
RefSeq Accession: NM_002866
Protein: P20336 (aka RAB3A_HUMAN or RB3A_HUMAN)
CCDS: CCDS12372.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.