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RAB6C Gene

protein-coding   GIFtS: 50
GCID: GC02P130737

RAB6C, Member RAS Oncogene Family

Pneumococci & Pneumococcal Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RAB6C, Member RAS Oncogene Family1 2
WTH32 3 5
Rab6-Like Protein WTH32 3
Ras-Related Protein Rab-6C2

External Ids:    HGNC: 165251   Entrez Gene: 840842   Ensembl: ENSG000002220147   OMIM: 6129095   UniProtKB: Q9H0N03   

Export aliases for RAB6C gene to outside databases

Previous GC identifers: GC02P128038 GC02M130298 GC02P130643 GC02M132331 GC02P130831 GC02M131954 GC02P130454 GC02U900801 GC11M073065 GC02P123046


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RAB6C Gene:
RAB6C (RAB6C, member RAS oncogene family) is a protein-coding gene. Diseases associated with RAB6C include hiv-1, and hypertension. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB6A.

UniProtKB/Swiss-Prot: RAB6C_HUMAN, Q9H0N0
Function: May be involved in the regulation of centrosome duplication and cell cycle progression

Gene Wiki entry for RAB6C Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the RAB6C gene promoter:
         Nkx3-1   LUN-1   AP-4   Nkx2-5   Nkx3-1 v2   Nkx6-1   FOXO4   Nkx3-1 v3   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAB6C promoter sequence
   Search Chromatin IP Primers for RAB6C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAB6C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q21.1   Ensembl cytogenetic band:  2q21.1   HGNC cytogenetic band: 2q21.1

RAB6C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB6C gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P130737:  view genomic region     (about GC identifiers)

Start:
130,737,235 bp from pter      End:
130,740,311 bp from pter
Size:
3,077 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RAB6C_HUMAN, Q9H0N0 (See protein sequence)
Recommended Name: Ras-related protein Rab-6C  
Size: 254 amino acids; 28355 Da
Miscellaneous: Primate-specific retrogene derived from isoform 2 of RAB6A transcript
Miscellaneous: Previously reported to exhibit GTP-binding affinity comparable to that of RAB6A (PubMed:16103095).
In contrast (PubMed:20064528) concludes that RAB6C is an inefficient GTP-binding
Secondary accessions: Q53RU3 Q6FIF7 Q9P128

Explore the universe of human proteins at neXtProt for RAB6C: NX_Q9H0N0

Explore proteomics data for RAB6C at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys164
  • Modification sites at PhosphoSitePlus

  • See RAB6C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115520.2  
    ENSEMBL proteins: 
     ENSP00000387307  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RAB: RAB, member RAS oncogene

    4 InterPro protein domains:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q9H0N0

    ProtoNet protein and cluster: Q9H0N0

    1 Blocks protein domain: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RAB6C_HUMAN, Q9H0N0
    Similarity: Belongs to the small GTPase superfamily. Rab family


    RAB6C for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAB6C_HUMAN, Q9H0N0
    Function: May be involved in the regulation of centrosome duplication and cell cycle progression

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA10455022
    GO:0005525GTP binding IEA--
         
    RAB6C for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RAB6C
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RAB6C

    miRNA
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    miRTarBase miRNAs that target RAB6C:
    hsa-mir-155-5p (MIRT020739), hsa-mir-192-5p (MIRT026521), hsa-mir-215-5p (MIRT024522), hsa-mir-21-5p (MIRT030854)

    Block miRNA regulation of human, mouse, rat RAB6C using miScript Target Protectors
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RAB6C_HUMAN, Q9H0N0: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol3

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IC10455022
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome IDA--
    GO:0016020membrane ----

    RAB6C for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RAB6C About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Pre-NOTCH Expression and Processing
    Pre-NOTCH Expression and Processing0.62
    Pre-NOTCH Processing in Golgi0.00
    2Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Signaling by NOTCH0.64
    3Signaling by GPCR
    Signal Transduction0.58
    4Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RAB6C
        Epithelial Tight Junctions



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAB6C
    Interactions:

        GeneGlobe Interaction Network for RAB6C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RAB6C (Q9H0N02 ENSP000003873074) via UniProtKB, MINT, STRING, and/or I2D (see all 172)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL1ENSP000002616364STRING: ENSP00000261636
    RGP1ENSP000004094664STRING: ENSP00000409466
    ARFRP1ENSP000003268844STRING: ENSP00000326884
    SCFD1ENSP000003907834STRING: ENSP00000390783
    SYS1ENSP000002439184STRING: ENSP00000243918
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    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process IDA10455022
    GO:0006886intracellular protein transport ----
    GO:0006913nucleocytoplasmic transport ----
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS10455022

    RAB6C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RAB6C



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RAB6C gene: 
    NM_032144.2  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000410061(uc002tpx.1)

    miRNA
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    OriGene qPCR primer pairs and template standards for RAB6C
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    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat RAB6C
      QuantiTect SYBR Green Assays in human, mouse, rat RAB6C
      QuantiFast Probe-based Assays in human, mouse, rat RAB6C

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RAB6C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RAB6C Expression
    About this image

    RAB6C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAB6C Protein Expression

    UniProtKB/Swiss-Prot: RAB6C_HUMAN, Q9H0N0
    Tissue specificity: Highest levels are found in fetal and adult brain, prostate, testis and spinal cord.
    Undetectable expression in adrenal gland, skeletal muscle, bone marrow, fetal, and adult liver, heart, salivary
    gland, and trachea. Detected in the HEK293, HEK293T, LNCaP, MCF-7, T-47D and EVSA-T cell lines (at protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB6C

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for RAB6C gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RAB6A6
    Gallus gallus RAB6A, member RAS oncogene family (R...
    92(a)
    1 → many
    1(194721970-194780643)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    90(a)
    85(a)
    many ↔ many
    many ↔ many
    GL343983.1(92334-113993)
    AAWZ02038411(231-10643)
    zebrafish
    (Danio rerio)
    Actinopterygii rab6a6
    CU694807.16
    Uncharacterized protein
    89(a)
    88(a)
    many ↔ many
    many ↔ many
    10(37939678-37955780) ENSDARG00000090667
    10(38032364-38041744) ENSDARG00000091195
    fruit fly
    (Drosophila melanogaster)
    Insecta Rab63 RAB small monomeric GTPase 79(a)   33C4   --
    worm
    (Caenorhabditis elegans)
    Secernentea rab-6.26
    Protein RAB-6.2 (rab-6.2) mRNA, complete cds
    74(a)
    1 → many
    X(17222475-17224577) WBGene00004270
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YPT66
    Rab family GTPase, Ras-like GTP binding protein in...
    56(a)
    1 → many
    XII(668244-668891) YLR262C
            Species with no ortholog for RAB6C

    ENSEMBL Gene Tree for RAB6C (if available)
    TreeFam Gene Tree for RAB6C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAB6C gene
    WTH3DI  RAB6A2  RAB412  RAB362  RAB342  RAB6B2  
    Selected SIMAP similar genes for RAB6C using alignment to 2 protein entries:     RAB6C_HUMAN (see all proteins) (see all similar genes):
    RAB6A    RAB6B    RAB6A'    RAB41    RAB39B    RAB5B
    RAB11B    RAB22A    RAB3C    RAB8B    RAB5C    RAB11A
    RAB2A    RAB10    RAB31    RAB17    DKFZp686J06205    RAB27B

    RAB6C for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RAB6C (see all 18)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1872633851,2
    --130740058(+) CTTAGC/TCCCCT 1 -- ut310--------
    rs1916847061,2
    --130740144(+) GAATAC/GAGAAA 1 -- ut310--------
    rs1832578201,2
    --130740207(+) GATGGA/TGTTAT 1 -- ut310--------
    rs1504859301,2
    C--130740230(+) TAATAC/TAATAT 1 -- ut310--------
    rs1877242141,2
    --130740277(+) TTGACA/GTGGCA 1 -- ut310--------
    rs1926559571,2
    --130740348(+) GTCATA/GACTTC 1 -- ds50010--------
    rs67215811,2
    C,F,H--130740562(+) AAAAGA/GAAACA 1 -- ds500124Minor allele frequency- G:0.21NS EA NA WA CSA 2350
    rs1856619251,2
    --130740612(+) TTACCA/GCCTTT 1 -- ds50010--------
    rs1895498781,2
    --130740663(+) ACACAA/C/GAACGT 1 -- ds50010--------
    rs728638191,2
    C,F--130740709(+) AGTTCG/AAATTA 1 -- ds50012Minor allele frequency- A:0.14WA EA 238

    HapMap Linkage Disequilibrium report for RAB6C (130737235 - 130740311 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RAB6C (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv471419CNV Duplication19718026
    nsv10157CNV Loss18304495
    nsv459274CNV Loss19166990
    nsv428403CNV Loss18775914
    nsv821629CNV Loss15273396
    esv29254CNV Loss19812545
    nsv834374CNV Gain17160897
    nsv875045CNV Gain21882294
    nsv875050CNV Gain21882294
    esv2751826CNV Gain17911159

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RAB6C
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612909    OMIM disorders: --

    4 diseases for RAB6C:    About MalaCards
    hiv-1    hypertension    breast cancer    prostatitis


    RAB6C for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): RAB6C
    Human Genome Epidemiology (HuGE) Navigator: RAB6C (3 documents)

    Export disorders for RAB6C gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RAB6C gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with RAB6C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. WTH3 is a direct target of the p53 protein. (PubMed id 17426708)1, 2, 3 Tian K.... Xu H. (Br. J. Cancer 2007)
    2. Rab6c, a new member of the Rab gene family, is involved in drug resistance in MCF7/AdrR cells. (PubMed id 11054569)1, 2, 3 Shan J.... Xu H.-P. (Gene 2000)
    3. WTH3, a new member of the Rab6 gene family, and multidrug resistance. (PubMed id 12007787)1, 2, 9 Shan J.... Xu H.-P. (Biochim. Biophys. Acta 2002)
    4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    6. RAB6C is a retrogene that encodes a centrosomal protein involved in cell cycle progression. (PubMed id 20064528)1, 2 Young J.... Goud B. (J. Mol. Biol. 2010)
    7. Methylation of WTH3, a possible drug resistant gene, inhibits p53 regulated expression. (PubMed id 18992151)1, 2 Tian K.... Xu H. (BMC Cancer 2008)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    10. Epigenetic regulation of WTH3 in primary and cultured drug-resistant breast cancer cells. (PubMed id 16267028)1, 9 Tian K....Xu H. (Cancer Res. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84084 HGNC: 16525 Ensembl:ENSG00000222014 euGenes: HUgn84084 ECgene: RAB6C
    H-InvDB: RAB6C

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RAB6C Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB6C Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
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    Patent Information for RAB6C gene:
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