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    RAB3C RAB3C, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 115827, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RAB3Cprovided by HGNC
    Official Full Name
    RAB3C, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:30269
    See related
    Ensembl:ENSG00000152932 MIM:612829; AllianceGenome:HGNC:30269
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene is a member of the RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
    Expression
    Biased expression in brain (RPKM 24.5) and adrenal (RPKM 6.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See RAB3C in Genome Data Viewer
    Location:
    5q11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (58582152..58859394)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (59399478..59677989)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (57877979..58155221)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr5:57826133-57826634 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:57826656-57827264 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:57839100-57840299 Neighboring gene NANOG hESC enhancer GRCh37_chr5:57858257-57858782 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16034 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86582 Neighboring gene microRNA 548ae-2 Neighboring gene long intergenic non-protein coding RNA 2108 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86593 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:58013208-58014189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16035 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86681 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:58186496-58187695 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:58233453-58234051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:58232852-58233452 Neighboring gene ribosomal protein L5 pseudogene 15 Neighboring gene Sharpr-MPRA regulatory region 1719 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:58276599-58277183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:58298739-58299634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16036 Neighboring gene MPRA-validated peak5258 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:58423513-58424422 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:58422602-58423512 Neighboring gene MPRA-validated peak5260 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr5:58454460-58454961 Neighboring gene phosphodiesterase 4D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16037 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:58624407-58625606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:58690566-58691066 Neighboring gene uncharacterized LOC107986347 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:58858724-58859374 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Overexpression of synaptic vesicle protein Rab GTPase 3C promotes vesicular exocytosis and drug resistance in colorectal cancer cells. Chang YC, et al. Mol Oncol, 2023 Mar. PMID 36652260, Free PMC Article
    2. Insulin-dependent translocation of the small GTP-binding protein rab3C in cardiac muscle: studies on insulin-resistant Zucker rats. Uphues I, et al. FEBS Lett, 1995 Dec 18. PMID 8543030
    3. Cloning, mapping, and characterization of the human Rab3C gene. Cheng H, et al. Biochem Genet, 2002 Aug. PMID 12296628
    4. Secretory RAB GTPase 3C modulates IL6-STAT3 pathway to promote colon cancer metastasis and is associated with poor prognosis. Chang YC, et al. Mol Cancer, 2017 Aug 7. PMID 28784136, Free PMC Article
    5. Rep15 interacts with several Rab GTPases and has a distinct fold for a Rab effector. Rai A, et al. Nat Commun, 2022 Jul 23. PMID 35871249, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of synaptic vesicle protein Rab GTPase 3C promotes vesicular exocytosis and drug resistance in colorectal cancer cells.
      Title: Overexpression of synaptic vesicle protein Rab GTPase 3C promotes vesicular exocytosis and drug resistance in colorectal cancer cells.
    2. Studied role of RAB3C overexpression in tumor metastasis and poor prognosis of colorectal cancer. Found RAB3c is associated with modulating exocytosis of IL-6 in cancer cells, leading to activation of the IL6-JAK2-STAT3 pathway.
      Title: Secretory RAB GTPase 3C modulates IL6-STAT3 pathway to promote colon cancer metastasis and is associated with poor prognosis.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Rab3b/3c-positive recycling vesicles are involved in and may constitute one of the recycling compartments in exogenous antigen cross-presentation.
      Title: The GTPase Rab3b/3c-positive recycling vesicles are involved in cross-presentation in dendritic cells.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    6. cloning, mapping, and characterization; expressed in the brain, placenta, and lung; maps to chromosome 5q13
      Title: Cloning, mapping, and characterization of the human Rab3C gene.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTP-dependent protein 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 protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ras-related protein Rab-3C

    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_001317915.2 → NP_001304844.1  ras-related protein Rab-3C isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different first exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC008852, AC034250, BC013033, BX375794, BX394661, H05600
      UniProtKB/Swiss-Prot
      Q96E17
      Conserved Domains (1) summary
      cd01865
      Location:28 → 192
      Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D

    2. NM_138453.4 → NP_612462.1  ras-related protein Rab-3C isoform 1

      See identical proteins and their annotated locations for NP_612462.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC008852, BC013033, DB485923, H05600
      Consensus CDS
      CCDS3976.1
      UniProtKB/Swiss-Prot
      Q96E17
      Related
      ENSP00000282878.4, ENST00000282878.6
      Conserved Domains (1) summary
      cd01865
      Location:30 → 194
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      58582152..58859394
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      59399478..59677989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96E17.1 GenPept UniProtKB/Swiss-Prot:Q96E17

    Gene LinkOut

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

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