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RAB6A Gene

protein-coding   GIFtS: 64
GCID: GC11M073386

RAB6A, Member RAS Oncogene Family


(Previous symbol: RAB6)
  See RAB6A-related diseases
at  

(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
RAB6A, Member RAS Oncogene Family1 2
RAB61 2 3 5
Rab GTPase2
RAB6, Member RAS Oncogene Family2
Ras-Related Protein Rab-6A2
Rab-63

External Ids:    HGNC: 97861   Entrez Gene: 58702   Ensembl: ENSG000001755827   OMIM: 1795135   UniProtKB: P203403   

Export aliases for RAB6A gene to outside databases

Previous GC identifers: GC11M075714 GC11M074926 GC11M073609 GC11M073113 GC11M073112 GC11M073064 GC11M069682


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RAB6A Gene:
This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB
family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor
compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde
(from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma
membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved
in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts
with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding
different isoforms have been identified. (provided by RefSeq, Aug 2011)

GeneCards Summary for RAB6A Gene:
RAB6A (RAB6A, member RAS oncogene family) is a protein-coding gene. Diseases associated with RAB6A include proximal spinal muscular atrophy, and choroideremia. GO annotations related to this gene include GTP binding and protein domain specific binding. An important paralog of this gene is RAB6C.

UniProtKB/Swiss-Prot: RAB6A_HUMAN, P20340
Function: Protein transport. Regulator of membrane traffic from the Golgi apparatus towards the endoplasmic
reticulum (ER). Has a low GTPase activity

Gene Wiki entry for RAB6A 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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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAB6A gene promoter:
         Bach1   NF-1   NF-1/L   Sp1   Olf-1   FOXO4   HFH-1   IRF-7A   Pax-4a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RAB6A promoter sequence
   Search Chromatin IP Primers for RAB6A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAB6A


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

Entrez Gene cytogenetic band: 11q13.3   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13.3

RAB6A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB6A gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M073386:  view genomic region     (about GC identifiers)

Start:
73,386,683 bp from pter      End:
73,472,201 bp from pter
Size:
85,519 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RAB6A_HUMAN, P20340 (See protein sequence)
Recommended Name: Ras-related protein Rab-6A  
Size: 208 amino acids; 23593 Da
Subunit: Interacts with CCDC64; leads to its accumulation in the pericentrosomal region (By similarity). Interacts
with SCYL1BP1. Interacts with VSP52 and RABGAP1. Interacts with GCC2 (via its GRIP domain). Interacts with
RAB6IP1 (via its RUN 1 domain). Isoform 1 interacts with RAB6KIFL. Isoform 2 does not interact with RAB6KIFL.
Isoform 1 interacts with BICD1. Isoform 2 interacts with BICD1. Isoform 1 interacts with BICD2. Isoform 2
interacts with BICD2. Interacts with TMF1. Isoform 1 (GTP-bound) interacts with DYNLRB1; the interaction is
direct. Isoform 2 (GDP-bound) interacts with DYNLRB1; the interaction is direct. Interacts with PIFO. Interacts
(GTP-bound) with APBA1/MINT1 isoform 2, also called Mint1_826, but not with isoform 1
5 PDB 3D structures from and Proteopedia for RAB6A:
1YZQ (3D)        2GIL (3D)        3BBP (3D)        3CWZ (3D)        4DKX (3D)    
Secondary accessions: A8K133 B7Z772 F5H668 Q1W5D8 Q5U0A8 Q9UBE4
Alternative splicing: 4 isoforms:  P20340-1   P20340-2   P20340-3   P20340-4   

Explore the universe of human proteins at neXtProt for RAB6A: NX_P20340

Explore proteomics data for RAB6A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys164
  • Modification sites at PhosphoSitePlus

  • See RAB6A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001230647.1  NP_001230648.1  NP_002860.2  NP_942599.1  

    ENSEMBL proteins: 
     ENSP00000311449   ENSP00000336850   ENSP00000443782   ENSP00000445350   ENSP00000440469  
     ENSP00000438842   ENSP00000443470   ENSP00000383318   ENSP00000437863  
    Reactome Protein details: P20340

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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 P20340

    ProtoNet protein and cluster: P20340

    1 Blocks protein domain: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RAB6A_HUMAN, P20340
    Similarity: Belongs to the small GTPase superfamily. Rab family


    Find genes that share domains with RAB6A           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAB6A_HUMAN, P20340
    Function: Protein transport. Regulator of membrane traffic from the Golgi apparatus towards the endoplasmic
    reticulum (ER). Has a low GTPase activity

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA16332443
    GO:0005515protein binding IPI12391317
    GO:0005525GTP binding IDA16332443
    GO:0019904protein domain specific binding IPI12447383
         
    Find genes that share ontologies with RAB6A           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for RAB6A:
     Decreased p24 protein expressi  Proliferating cells 

    Animal Models:
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    miRTarBase miRNAs that target RAB6A:
    hsa-mir-186-5p (MIRT021193), hsa-mir-324-5p (MIRT043017), hsa-mir-21-5p (MIRT031010), hsa-mir-375 (MIRT019966), hsa-mir-335-5p (MIRT018651), hsa-mir-155-5p (MIRT001509)

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    Selected qRT-PCR Assays for microRNAs that regulate RAB6A (see all 73):
    hsa-miR-520e hsa-miR-642a hsa-miR-3074-3p hsa-miR-3653 hsa-miR-342-3p hsa-miR-556-3p hsa-miR-761 hsa-miR-509-3-5p
    SwitchGear 3'UTR luciferase reporter plasmidRAB6A 3' UTR sequence
    Inhib. RNA
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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
    RAB6A_HUMAN, P20340: Golgi apparatus membrane; Lipid-anchor
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol4
    endoplasmic reticulum2
    nucleus2
    cytoskeleton1
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus IDA11121396

    Find genes that share ontologies with RAB6A           About GenesLikeMe


    (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 RAB6A 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
    5Cytoskeletal Signaling
    Cytoskeletal Signaling


    Find genes that share SuperPaths with RAB6A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RAB6A
        Epithelial Tight Junctions

    1 Cell Signaling Technology (CST) Pathway for RAB6A
        Cytoskeletal Signaling


    1 Reactome Pathway for RAB6A
        Pre-NOTCH Processing in Golgi


        Pathway & Disease-focused RT2 Profiler PCR Array including RAB6A: 
              Huntington's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RAB6A

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

    Selected Interacting proteins for RAB6A (P203401, 2, 3 ENSP000003114494) via UniProtKB, MINT, STRING, and/or I2D (see all 431)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OCRLQ019681, 2, 3, ENSP000003601544EBI-1052826,EBI-6148898 MINT-2883128 MINT-2980844 MINT-2980884 MINT-8184937 MINT-2980764 MINT-2980804 MINT-2883260 MINT-8184925 MINT-8184725 MINT-2980924 MINT-2882900 MINT-2882920 I2D: score=2 STRING: ENSP00000360154
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000042protein targeting to Golgi IDA18243103
    GO:0006184GTP catabolic process TAS2501306
    GO:0006886intracellular protein transport ----
    GO:0006890retrograde vesicle-mediated transport, Golgi to ER TAS12447383
    GO:0006913nucleocytoplasmic transport ----

    Find genes that share ontologies with RAB6A           About GenesLikeMe



    (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 RAB6A

    Selected Novoseek inferred chemical compound relationships for RAB6A gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 71.8 11 10944329 (1), 7798313 (1), 8521955 (1), 10562278 (1) (see all 10)
    gtp 66.1 13 10455022 (2), 7798313 (1), 8521955 (1), 8223626 (1) (see all 9)
    n-ethylmaleimide 30.4 1 14872244 (1)
    cysteine 29.6 2 11258916 (1), 9607139 (1)
    lipid 21 8 16473585 (1), 17048274 (1), 16401880 (1), 18939858 (1) (see all 7)
    phosphoinositide 7.62 1 12952078 (1)
    phosphotyrosine 6.21 1 14680817 (1)
    calcium 5.42 2 17010659 (1), 20001421 (1)
    phosphatidylinositol 4.45 5 17651088 (2), 12640132 (1), 18843044 (1), 20231409 (1)
    phenylalanine 2.43 1 15339665 (1)



    Find genes that share compounds with RAB6A           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RAB6A gene (4 alternative transcripts): 
    NM_001243718.1  NM_001243719.1  NM_002869.4  NM_198896.1  

    Unigene Clusters for RAB6A:

    RAB6A, member RAS oncogene family
    Hs.503222  [show with all ESTs], Hs.591552  [show with all ESTs]
    Unigene Representative Sequences: NM_002869, AL136727
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310653(uc021qnd.1 uc001oue.3 uc009yts.3) ENST00000336083(uc001ouf.3)
    ENST00000541973 ENST00000541588 ENST00000545625 ENST00000540771 ENST00000537446
    ENST00000400470 ENST00000541795(uc001oug.3) ENST00000536566
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    hsa-miR-520e hsa-miR-642a hsa-miR-3074-3p hsa-miR-3653 hsa-miR-342-3p hsa-miR-556-3p hsa-miR-761 hsa-miR-509-3-5p
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      QuantiTect SYBR Green Assays in human, mouse, rat RAB6A
      QuantiFast Probe-based Assays in human, mouse, rat RAB6A

    Additional mRNA sequence: 

    AF091030.1 AF309646.1 AK055504.1 AL136727.1 BC120998.2 BC120999.1 CR533469.1 

    Selected DOTS entries (see all 28):

    DT.92017399  DT.95358187  DT.100823623  DT.120744709  DT.97859628  DT.100823625  DT.100037851  DT.120744771 
    DT.120744755  DT.120744783  DT.405519  DT.40121228  DT.453089  DT.102832487  DT.120744787  DT.100753641 
    DT.100771764  DT.70102087  DT.100823624  DT.91864076  DT.91896502  DT.120744711  DT.120744733  DT.91796649 

    Selected AceView cDNA sequences (see all 567):

    BQ718935 AI435940 AL709962 H39193 Z41006 CA775206 BC003617 AW467920 
    AI133531 BF440048 AA169748 AA988575 NM_198896 AL602652 AF119836 AI806043 
    AA431581 N23002 BU683284 BM273282 AW276608 BU161628 BM835352 BQ422263 

    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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    RAB6A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTGAAATA
    RAB6A Expression
    About this image


    RAB6A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
     
     Brain (Nervous System)
             Cerebral Cortex
    RAB6A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAB6A Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.503222 Hs.591552

    UniProtKB/Swiss-Prot: RAB6A_HUMAN, P20340
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including RAB6A: 
              Huntington's Disease in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB6A

    (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 eukaryotes.

    Orthologs for RAB6A gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rab6a1 , 5 RAB6A, member RAS oncogene family1, 5 95.35(n)1
    99.04(a)1
      7 (54.36 cM)5
    193461  NM_001163663.11  NP_001157135.11 
     1006074105 
    chicken
    (Gallus gallus)
    Aves RAB6A1 RAB6A, member RAS oncogene family 89.58(n)
    99.04(a)
      419063  NM_001044640.1  NP_001038105.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    99(a)
    92(a)
    many ↔ many
    many ↔ many
    GL343983.1(92334-113993)
    AAWZ02038411(231-10643)
    African clawed frog
    (Xenopus laevis)
    Amphibia rab6-prov2 RAB6A, member RAS oncogene family 86.23(n)    BC046683.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.286072 Transcribed sequence with moderate similarity to protein more 77.67(n)    CK354911.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rab63 RAB small monomeric GTPase 85(a)   33C4   --
    worm
    (Caenorhabditis elegans)
    Secernentea C56E6.23
    rab-6.11
    GTP-binding3
    rab-6.11
    38(a)3
    67.99(n)1
    78.22(a)1
      II(6524883-6525953)3
    1762751  NM_066592.41  NP_498993.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YPT66
    Rab family GTPase, Ras-like GTP binding protein in...
    60(a)
    1 → many
    XII(668244-668891) YLR262C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RAB6A1 RAB6A 68.33(n)
    75(a)
      819069  NM_130025.4  NP_181989.1 
    rice
    (Oryza sativa)
    Liliopsida Os.60322 Oryza sativa (japonica cultivar-group) putative ras-related more 74.41(n)    NM_187359.1 


    ENSEMBL Gene Tree for RAB6A (if available)
    TreeFam Gene Tree for RAB6A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAB6A gene
    RAB6C2  RAB412  RAB362  RAB342  RAB6B2  
    Selected SIMAP similar genes for RAB6A using alignment to 6 protein entries:     RAB6A_HUMAN (see all proteins) (see all similar genes):
    RAB6A'    RAB6B    RAB6C    RAB41    DKFZp313C1541    RAB2B
    RAB5C    RAB5B    RAB8B    RAB13    RAB2A    RAB39B
    RAB11A    RAB31    RAB5A    RAB11B    RAB37    RAB8A

    Find genes that share paralogs with RAB6A           About GenesLikeMe



    (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)
    About This Section

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    Selected SNPs for RAB6A (see all 1921)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1165791001,2
    C,F--73250425(+) ATAGTA/TAACAG 4 -- ds50011Minor allele frequency- T:0.02WA 118
    rs735386261,2
    C,F--73250836(+) AAATGC/TTAATT 4 -- ds50012Minor allele frequency- T:0.04WA 120
    rs1163515901,2
    C,F--73251130(+) GACCCA/TTCTGC 4 -- ut311Minor allele frequency- T:0.04WA 118
    rs1387349351,2
    C--73251253(+) ATCTT-/TAAGTA
            
    TAAGT
    4 -- cds10--------
    rs42011,2
    C--73251258(+) ATCTT-/ATAAG 
    T
    /TAAGTA
    TAAGT
    12 -- ut315EU NA EA 344
    rs1420571431,2
    --73251275(+) TATGTA/GGGCTA 4 -- ut310--------
    rs1869741571,2
    --73251552(+) CAAACA/TATGTA 4 -- ut310--------
    rs1914413541,2
    --73251606(+) CTAGTA/GAAGAT 4 -- ut310--------
    rs2016333571,2
    --73251803(+) ACCAG-/TTAA  
            
    TTAAA
    4 -- ut310--------
    rs1513355811,2
    --73251899(+) AATATA/TGAGTT 4 -- ut310--------

    HapMap Linkage Disequilibrium report for RAB6A (73386683 - 73472201 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for RAB6A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744772CNV Deletion23290073
    esv2665533CNV Deletion23128226
    nsv897912CNV Loss21882294
    nsv510260CNV Loss20534489
    esv22024CNV Loss19812545
    esv25152CNV Loss19812545
    nsv390CNV Loss18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RAB6A
    DNA2.0 Custom Variant and Variant Library Synthesis for RAB6A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 179513    OMIM disorders: --

    2 diseases for RAB6A:    
    About MalaCards
    proximal spinal muscular atrophy    choroideremia

    1 disease from the University of Copenhagen DISEASES database for RAB6A:
    Oculocerebrorenal syndrome

    Find genes that share disorders with RAB6A           About GenesLikeMe

    4 Novoseek inferred disease relationships for RAB6A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinal degeneration 33.4 1 9685396 (1)
    cancer 1.89 3 19425190 (1), 19620778 (1), 15805241 (1)
    tumors 0.356 1 15337753 (1)
    influenza 0 2 7798313 (1)

    Genetic Association Database (GAD): RAB6A
    Human Genome Epidemiology (HuGE) Navigator: RAB6A (1 document)

    Export disorders for RAB6A 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 RAB6A gene, integrated from 10 sources (see all 226):
    (articles sorted by number of sources associating them with RAB6A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rab and Arl GTPase family members cooperate in the localization of the golgin GCC185. (PubMed id 18243103)1, 2, 9 Burguete A.S.... Pfeffer S.R. (Cell 2008)
    2. Rab6 family proteins interact with the dynein light chain protein DYNLRB1. (PubMed id 18044744)1, 2, 9 Wanschers B.F.J.... Fransen J. (Cell Motil. Cytoskeleton 2008)
    3. A new Mint1 isoform, but not the conventional Mint1, interacts with the small GTPase Rab6. (PubMed id 23737971)1, 2 Thyrock A.... Barnekow A. (PLoS ONE 2013)
    4. Structural basis for recruitment of Rab6-interacting protein 1 to Golgi via a RUN domain. (PubMed id 19141279)1, 2 Recacha R....Khan A.R. (Structure 2009)
    5. Structure of the extremely slow GTPase Rab6A in the GTP bound form at 1.8A resolution. (PubMed id 16332443)1, 2 Bergbrede T.... Alexandrov K. (J. Struct. Biol. 2005)
    6. Characterization of the human GARP (Golgi associated retrograde protein) complex. (PubMed id 15878329)1, 2 Liewen H.... Stenner-Liewen F. (Exp. Cell Res. 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    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. Bicaudal-D regulates COPI-independent Golgi-ER transport by recruiting the dynein-dynactin motor complex. (PubMed id 12447383)1, 2 Matanis T.... Hoogenraad C.C. (Nat. Cell Biol. 2002)
    10. Rab6c, a new member of the Rab gene family, is involved in drug resistance in MCF7/AdrR cells. (PubMed id 11054569)1, 2 Shan J.... Xu H.-P. (Gene 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5870 HGNC: 9786 AceView: RAB6A Ensembl:ENSG00000175582 euGenes: HUgn5870
    ECgene: RAB6A H-InvDB: RAB6A

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for RAB6A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB6A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for RAB6A gene:
    Search GeneIP for patents involving RAB6A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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