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

Gene ID: 115827, updated on 26-May-2016
Official Symbol
RAB3Cprovided by HGNC
Official Full Name
RAB3C, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:30269
See related
Ensembl:ENSG00000152932 HPRD:06704; MIM:612829; Vega:OTTHUMG00000097053
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]
Orthologs
Location:
5q13
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (58582127..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 uncharacterized LOC101928600 Neighboring gene microRNA 548ae-2 Neighboring gene uncharacterized LOC105378986 Neighboring gene ribosomal protein L5 pseudogene 15 Neighboring gene uncharacterized LOC105378990 Neighboring gene phosphodiesterase 4D Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP 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 transport IEA
Inferred from Electronic Annotation
more info
 
regulation of exocytosis IEA
Inferred from Electronic Annotation
more info
 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 
vesicle IDA
Inferred from Direct Assay
more info
PubMed 

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_001317915.1NP_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 (2) summary
    cd01865
    Location:28192
    Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D
    pfam00071
    Location:30191
    Ras; Ras family
  2. NM_138453.3NP_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, OTTHUMP00000122555, ENST00000282878, OTTHUMT00000214156
    Conserved Domains (2) summary
    cd01865
    Location:30194
    Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D
    pfam00071
    Location:32193
    Ras; Ras family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    58582127..58859394
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248418.3XP_005248475.1  

    Conserved Domains (2) summary
    cd01865
    Location:28192
    Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D
    pfam00071
    Location:30191
    Ras; Ras family
  2. XM_011543134.1XP_011541436.1  

    Conserved Domains (1) summary
    cl21455
    Location:30123
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    57878581..58147206
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)