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

Gene ID: 115827, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (58582152..58859394)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (59399478..59677989)
105.20220307 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

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. 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. Cloning, mapping, and characterization of the human Rab3C gene. Cheng H, et al. Biochem Genet, 2002 Aug. PMID 12296628
  3. 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
  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. Localization versus function of Rab3 proteins. Evidence for a common regulatory role in controlling fusion. Schlüter OM, et al. J Biol Chem, 2002 Oct 25. PMID 12167638

See all (29) 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)

Genotypes

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 secretion IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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

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