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

Gene ID: 115827, updated on 24-Nov-2020

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
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

Genomic context

See RAB3C in Genome Data Viewer
Location:
5q11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (58582152..58859394)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (57877950..58155221)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene microRNA 548ae-2 Neighboring gene long intergenic non-protein coding RNA 2108 Neighboring gene ribosomal protein L5 pseudogene 15 Neighboring gene phosphodiesterase 4D Neighboring gene uncharacterized LOC107986348 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

Associated conditions

Description Tests
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTP-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
myosin V binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
antigen processing and presentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle docking involved in exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
anchored component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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