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

    Gene ID: 115827, updated on 9-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001317915.2NP_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:28192
      Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D
    2. NM_138453.4NP_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:30194
      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)