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    RAB3B RAB3B, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 5865, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RAB3Bprovided by HGNC
    Official Full Name
    RAB3B, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:9778
    See related
    Ensembl:ENSG00000169213 MIM:179510; AllianceGenome:HGNC:9778
    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 GDP binding activity; GTPase activity; and myosin V binding activity. Involved in several processes, including positive regulation of dopamine uptake involved in synaptic transmission; regulation of synaptic vesicle cycle; and regulation of vesicle size. Located in perinuclear region of cytoplasm and vesicle. Is active in dopaminergic synapse and synaptic vesicle membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in prostate (RPKM 6.0), brain (RPKM 3.4) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAB3B in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (51907956..51990700, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (51789104..51872214, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (52373628..52456372, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nardilysin convertase Neighboring gene microRNA 761 Neighboring gene tRNA splicing endonuclease subunit 15 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:52342189-52342720 Neighboring gene Sharpr-MPRA regulatory region 5937 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:52345137-52345690 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:52346444-52346641 Neighboring gene MPRA-validated peak224 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:52362999-52364198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1029 Neighboring gene RNA, 5S ribosomal pseudogene 48 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 883 Neighboring gene ribosomal protein S26 pseudogene 14 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:52470431-52471275 Neighboring gene RNA, 7SL, cytoplasmic 290, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1030 Neighboring gene thioredoxin domain containing 12 Neighboring gene KTI12 chromatin associated homolog

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Pan-cancer analysis reveals correlation between RAB3B expression and tumor heterogeneity, immune microenvironment, and prognosis in multiple cancers. Liu XS, et al. Sci Rep, 2024 Apr 30. PMID 38688977, Free PMC Article
    2. Expression and polarized targeting of a rab3 isoform in epithelial cells. Weber E, et al. J Cell Biol, 1994 May. PMID 8175882, Free PMC Article
    3. Expression, localization and functional role of small GTPases of the Rab3 family in insulin-secreting cells. Regazzi R, et al. J Cell Sci, 1996 Sep. PMID 8886977
    4. Distinct roles of Rab3B and Rab13 in the polarized transport of apical, basolateral, and tight junctional membrane proteins to the plasma membrane. Yamamoto Y, et al. Biochem Biophys Res Commun, 2003 Aug 22. PMID 12901864
    5. Rab3B immunoexpression in human pituitary adenomas. Rotondo F, et al. Appl Immunohistochem Mol Morphol, 2009 May. PMID 19384079

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. circ_0000337 Promotes the Progression of Cervical Cancer by miR-155-5p/RAB3B Axis.
      Title: circ_0000337 Promotes the Progression of Cervical Cancer by miR-155-5p/RAB3B Axis.
    2. Rab3B enhances the stabilization of DDX6 to promote lung adenocarcinoma aggressiveness.
      Title: Rab3B enhances the stabilization of DDX6 to promote lung adenocarcinoma aggressiveness.
    3. Pan-cancer analysis reveals correlation between RAB3B expression and tumor heterogeneity, immune microenvironment, and prognosis in multiple cancers.
      Title: Pan-cancer analysis reveals correlation between RAB3B expression and tumor heterogeneity, immune microenvironment, and prognosis in multiple cancers.
    4. Long noncoding RNA ENST00000436340 promotes podocyte injury in diabetic kidney disease by facilitating the association of PTBP1 with RAB3B.
      Title: Long noncoding RNA ENST00000436340 promotes podocyte injury in diabetic kidney disease by facilitating the association of PTBP1 with RAB3B.
    5. Elevated expression of RAB3B plays important roles in chemoresistance and metastatic potential of hepatoma cells.
      Title: Elevated expression of RAB3B plays important roles in chemoresistance and metastatic potential of hepatoma cells.
    6. GDP/GTP exchange factor MADD drives activation and recruitment of secretory Rab GTPases to Weibel-Palade bodies.
      Title: GDP/GTP exchange factor MADD drives activation and recruitment of secretory Rab GTPases to Weibel-Palade bodies.
    7. Western blot experiments designed to detect flotillin 2, TMEM256, Rab3B and LAMTOR1 showed that the level of these proteins was higher in urinary exosomes from prostate cancer patients compared to healthy males
      Title: Exosomal proteins as prostate cancer biomarkers in urine: From mass spectrometry discovery to immunoassay-based validation.
    8. The structure of Rab3B:GDP complex was solved to 1.9A resolution and the structural base comparison with other Rab3 members provides a structural basis for the GDP/GTP switch in controlling the activity of small GTPase.
      Title: Crystal structure of inactive form of Rab3B.
    9. These results support an important inter-species difference in regulating insulin exocytosis where RAB3B is the most expressed isoform in human islets.
      Title: In vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human islets.
    10. RAB3B improves dopamine handling and storage capacity at presynaptic terminals, and confers protection to vulnerable DA neurons.
      Title: Functional enhancement and protection of dopaminergic terminals by RAB3B overexpression.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTP 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 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 
    Process Evidence Code Pubs
    involved_in antigen processing and presentation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of dopamine uptake involved in synaptic transmission IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of synaptic vesicle cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of synaptic vesicle cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of vesicle size IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in dopaminergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in dopaminergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    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
    		  
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in synaptic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in synaptic vesicle membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ras-related protein Rab-3B
    Names
    brain antigen RAB3B

    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.

    mRNA and Protein(s)

    1. NM_002867.4 → NP_002858.2  ras-related protein Rab-3B

      See identical proteins and their annotated locations for NP_002858.2

      Status: VALIDATED

      Source sequence(s)
      AL589663, AU119030, BC005035
      Consensus CDS
      CCDS560.1
      UniProtKB/Swiss-Prot
      P20337, Q5VUL2, Q9BSI1
      UniProtKB/TrEMBL
      A0A0A1HAV6, A8K6I8
      Related
      ENSP00000360718.3, ENST00000371655.4
      Conserved Domains (2) summary
      smart00175
      Location:23 → 183
      RAB; Rab subfamily of small GTPases
      cd01865
      Location:22 → 186
      Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      51907956..51990700 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001958.2 → XP_016857447.1  ras-related protein Rab-3B isoform X1

      UniProtKB/Swiss-Prot
      P20337, Q5VUL2, Q9BSI1
      UniProtKB/TrEMBL
      A0A0A1HAV6, A8K6I8
      Conserved Domains (2) summary
      smart00175
      Location:23 → 183
      RAB; Rab subfamily of small GTPases
      cd01865
      Location:22 → 186
      Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      51789104..51872214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338003.1 → XP_054193978.1  ras-related protein Rab-3B isoform X1

      UniProtKB/Swiss-Prot
      P20337, Q5VUL2, Q9BSI1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P20337.2 GenPept UniProtKB/Swiss-Prot:P20337

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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