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RAB8A Gene

protein-coding   GIFtS: 61
GCID: GC19P016222

RAB8A, Member RAS Oncogene Family

(Previous name: mel transforming oncogene (derived from cell line NK14))
(Previous symbol: MEL)
  See RAB8A-related disease
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
RAB8A, Member RAS Oncogene Family1 2     Mel Transforming Oncogene (Derived From Cell Line NK14)- RAB8 Homolog2
MEL1 2 3 5     Mel Transforming Oncogene (RAB8 Homolog)2
Mel Transforming Oncogene (Derived From Cell Line NK14)1 2     Ras-Associated Protein RAB82
Oncogene C-Mel2 3     Ras-Related Protein Rab-8A2
RAB82 3     

External Ids:    HGNC: 70071   Entrez Gene: 42182   Ensembl: ENSG000001674617   OMIM: 1650405   UniProtKB: P610063   

Export aliases for RAB8A gene to outside databases

Previous GC identifers: GC19P016083 GC19P015793


(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 RAB8A Gene:
The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with
an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the
transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares
97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the
4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this
protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that
is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB
proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between
MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome
19p13.1. (provided by RefSeq, Jul 2008)

GeneCards Summary for RAB8A Gene:
RAB8A (RAB8A, member RAS oncogene family) is a protein-coding gene. Diseases associated with RAB8A include sphingolipidosis. GO annotations related to this gene include GTP binding and Rab GTPase binding. An important paralog of this gene is RAB10.

UniProtKB/Swiss-Prot: RAB8A_HUMAN, P61006
Function: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of
transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active
GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible
for vesicle formation, movement, tethering and fusion. That Rab is involved in polarized vesicular trafficking
and neurotransmitter release. Together with RAB11A, RAB3IP, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and
DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and
lumenogenesis. Together with MYO5B and RAB11A participates in epithelial cell polarization. Plays an important
role in ciliogenesis. Together with MICALL2, may also regulate adherens junction assembly. May play a role in
insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore play a role in
glucose homeostasis

Gene Wiki entry for RAB8A 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_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAB8A gene promoter:
         AP-1   ATF-2   c-Jun   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RAB8A promoter sequence
   Search Chromatin IP Primers for RAB8A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAB8A


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

Entrez Gene cytogenetic band: 19p13.1   Ensembl cytogenetic band:  19p13.12   HGNC cytogenetic band: 19p13.2-p13.1

RAB8A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB8A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P016222:  view genomic region     (about GC identifiers)

Start:
16,222,439 bp from pter      End:
16,245,044 bp from pter
Size:
22,606 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RAB8A_HUMAN, P61006 (See protein sequence)
Recommended Name: Ras-related protein Rab-8A precursor  
Size: 207 amino acids; 23668 Da
Subunit: Interacts (GTP-bound form) with MICALL1; regulates RAB8A association with recycling endosomes. Interacts
with MICALL2; competes with RAB13 and is involved in E-cadherin endocytic recycling. Interacts with MICAL1.
Interacts with EHD1. Interacts with MAP4K2 and SYTL4. Interacts with SGSM1 and SGSM3. Interacts with RABIF,
RIMS2, RPH3A and RPH3A. Interacts with OPTN. Interacts with RAB3IP. Interacts with MYO5B. Interacts with PIFO.
Interacts with BIRC6/bruce. Interacts with OCRL
Selected PDB 3D structures from and Proteopedia for RAB8A (see all 8):
3QBT (3D)        3TNF (3D)        4LHV (3D)        4LHW (3D)        4LHX (3D)        4LHY (3D)    
Secondary accessions: P24407 Q6FHV5

Explore the universe of human proteins at neXtProt for RAB8A: NX_P61006

Explore proteomics data for RAB8A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RAB8A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005361.2  
    ENSEMBL proteins: 
     ENSP00000300935   ENSP00000467501  
    Reactome Protein details: P61006

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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 P61006

    ProtoNet protein and cluster: P61006

    5 Blocks protein domains:
    IPB001806 Transforming protein P21 RAS signature
    IPB002041 GTP-binding nuclear protein Ran
    IPB003577 Ras small GTPase
    IPB003578 Ras small GTPase
    IPB006688 ADP-ribosylation factor


    UniProtKB/Swiss-Prot: RAB8A_HUMAN, P61006
    Similarity: Belongs to the small GTPase superfamily. Rab family


    Find genes that share domains with RAB8A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: RAB8A_HUMAN, P61006
    Function: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of
    transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active
    GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible
    for vesicle formation, movement, tethering and fusion. That Rab is involved in polarized vesicular trafficking
    and neurotransmitter release. Together with RAB11A, RAB3IP, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and
    DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and
    lumenogenesis. Together with MYO5B and RAB11A participates in epithelial cell polarization. Plays an important
    role in ciliogenesis. Together with MICALL2, may also regulate adherens junction assembly. May play a role in
    insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore play a role in
    glucose homeostasis
    Enzyme regulation: Activated in response to insulin (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity EXP--
    GO:0005515protein binding IPI15837803
    GO:0005525GTP binding IDA--
    GO:0017137Rab GTPase binding ISS--
    GO:0019003GDP binding IDA--
         
    Find genes that share ontologies with RAB8A           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RAB8A:
     Decreased Hepatitis C virus re 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Rab8a):
     cellular  digestive/alimentary  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     mortality/aging  renal/urinary system 

    Find genes that share phenotypes with RAB8A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rab8atm1.2Aha for RAB8A

       genOway: Develop your customized and physiologically relevant rodent model for RAB8A

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    Block miRNA regulation of human, mouse, rat RAB8A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAB8A (see all 41):
    hsa-miR-302d hsa-miR-520e hsa-miR-30d hsa-miR-519a hsa-miR-218 hsa-miR-372 hsa-miR-30a hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidRAB8A 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
    RAB8A_HUMAN, P61006: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Golgi apparatus. Recycling
    endosome membrane. Cell projection, cilium. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome
    membrane; Lipid-anchor; Cytoplasmic side (By similarity). Note=Colocalizes with OPTN at the Golgi complex and in
    vesicular structures close to the plasma membrane. In the GDP-bound form, present in the perinuclear region.
    Shows a polarized distribution to distal regions of cell protrusions in the GTP-bound form. Colocalizes with
    PARD3, PRKCI, EXOC5, OCLN, PODXL and RAB11A in apical membrane initiation sites (AMIS) during the generation of
    apical surface and lumenogenesis. Localizes to tubular recycling endosome. Recruited to phagosomes containing
    S.aureus or M.tuberculosis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane5
    cytosol3
    cytoskeleton2
    endosome2
    mitochondrion2
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 19):    About this table

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

    Find genes that share ontologies with RAB8A           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 RAB8A About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    Transport Clathrin coated vesicle cycle0.66
    2Regulation of PLK1 Activity at G2/M Transition
    Regulation of PLK1 Activity at G2/M Transition0.77
    Mitotic G2-G2/M phases0.69
    G2/M Transition0.70
    3Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90
    4Clathrin derived vesicle budding
    Membrane Trafficking0.32
    Translocation of GLUT4 to the Plasma Membrane0.32
    5Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36


    Find genes that share SuperPaths with RAB8A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RAB8A
        Epithelial Tight Junctions

    1 Cell Signaling Technology (CST) Pathway for RAB8A
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for RAB8A
        Transport Clathrin-coated vesicle cycle


    2 Reactome Pathways for RAB8A
        Translocation of GLUT4 to the plasma membrane
    Regulation of PLK1 Activity at G2/M Transition


    1 Kegg Pathway  (Kegg details for RAB8A):
        Pancreatic secretion

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAB8A
    Interactions:

        GeneGlobe Interaction Network for RAB8A

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

    Selected Interacting proteins for RAB8A (P610061, 2, 3 ENSP000003009354) via UniProtKB, MINT, STRING, and/or I2D (see all 113)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OCRLQ019681, 2, 3, ENSP000003601544EBI-722293,EBI-6148898 MINT-2882797 MINT-8184851 MINT-8184763 MINT-8184836 MINT-8185021 MINT-8184863 MINT-8184983 MINT-2882984 MINT-8184736 MINT-8184949 MINT-8184748 MINT-2883154 I2D: score=2 STRING: ENSP00000360154
    RABIFP472241, 2, 3, ENSP000003562314EBI-722293,EBI-713992 MINT-2837574 MINT-2837552 I2D: score=2 STRING: ENSP00000356231
    BAG6P463792, 3MINT-63929 I2D: score=5 
    ENSG00000096155P463792, 3MINT-63929 I2D: score=5 
    ENSG00000227761P463792, 3MINT-63929 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006184GTP catabolic process EXP--
    GO:0006886intracellular protein transport ----
    GO:0006904vesicle docking involved in exocytosis IDA17574030

    Find genes that share ontologies with RAB8A           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 Tocris compounds for RAB8A



    (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 RAB8A gene: 
    NM_005370.4  

    Unigene Cluster for RAB8A:

    RAB8A, member RAS oncogene family
    Hs.642874  [show with all ESTs]
    Unigene Representative Sequence: AK095221
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300935(uc002ndm.1 uc002ndn.4 uc010xpc.2 uc002ndo.4)
    ENST00000590899 ENST00000588105 ENST00000587156 ENST00000586682 ENST00000589697
    ENST00000592971
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    Additional mRNA sequence: 

    AB209767.1 AF498943.1 AK025165.1 AK095221.1 AK293676.1 AY927516.1 BC002977.1 BT007184.1 
    CR536583.1 CR542274.1 X56741.1 

    23 DOTS entries:

    DT.100826418  DT.448409  DT.100826438  DT.100826413  DT.95213985  DT.92451995  DT.100826414  DT.95254275 
    DT.99936169  DT.100826416  DT.100826440  DT.121446010  DT.121446021  DT.100826417  DT.121445967  DT.121445969 
    DT.121445993  DT.40267899  DT.95368091  DT.97811779  DT.100826419  DT.92452006  DT.95368097 

    Selected AceView cDNA sequences (see all 536):

    AA322829 BP337883 AU119700 BM475359 X56741 BE384717 AU122740 AA280958 
    AA300597 AA527458 BQ064929 BM457602 CB215574 BU527417 AA654013 AU103182 
    BC002977 NM_005370 AU103185 AL529636 AU076549 BQ222986 BQ936514 BP338417 

    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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    RAB8A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCTGTTTAC
    RAB8A Expression
    About this image

    RAB8A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAB8A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.642874
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB8A

    (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 RAB8A gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rab8a1 , 5 RAB8A, member RAS oncogene family1, 5 92.11(n)1
    97.1(a)1
      8 (34.84 cM)5
    172741  NM_023126.21  NP_075615.21 
     721612005 
    chicken
    (Gallus gallus)
    Aves RAB8A1 RAB8A, member RAS oncogene family 83.74(n)
    93.72(a)
      428352  NM_001031504.1  NP_001026675.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia CA788377.12   -- 80.43(n)    CA788377.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rab8a1 RAB8A, member RAS oncogene family 79.55(n)
    93.24(a)
      571897  NM_001089562.1  NP_001083031.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rab81 Rab8 74.56(n)
    79.23(a)
      40168  NM_001259908.2  NP_001246837.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rab-81 rab-8 67.15(n)
    73.91(a)
      171935  NM_058798.5  NP_491199.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC41 SEC4 61.24(n)
    58.72(a)
      850543   NP_116650.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G598401 AT5G59840 67.26(n)
    72.78(a)
      836105  NM_125376.3  NP_200792.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g04613001 Os05g0461300 68.2(n)
    72.99(a)
      4339021  NM_001062296.1  NP_001055761.1 


    ENSEMBL Gene Tree for RAB8A (if available)
    TreeFam Gene Tree for RAB8A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAB8A gene
    RAB102  RAB3B2  RAB262  RAB3D2  RAB372  RAB8B2  RAB3A2  RAB1B2  
    RAB122  RAB1A2  RAB132  RAB3C2  
    Selected SIMAP similar genes for RAB8A using alignment to 2 protein entries:     RAB8A_HUMAN (see all proteins) (see all similar genes):
    RAB8B    rab1b    RAB10    DKFZp686J06205    RAB13    RAB3C
    RAB43    DKFZp686J07132    RAB3B    RAB15    RAB19    RAB3A
    RAB12    RAB1C    RAB35    RAB30    DKFZp313C1541    RAB26

    Find genes that share paralogs with RAB8A           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)
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    Selected SNPs for RAB8A (see all 476)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs288551971,2
    C--16152729(+) TTTTTA/TAAAAA 1 -- us2k1 tfbs35Minor allele frequency- T:0.14NA WA EA 362
    rs1894898521,2
    --16152735(+) AAAAAA/TTTTTT 1 -- us2k10--------
    rs1385427431,2
    --16220568(+) CAGCCA/GCCTGA 1 -- us2k10--------
    rs288416731,2
    C--16220643(+) TGTTTC/TACCAT 1 -- us2k12Minor allele frequency- T:0.00NA 4
    rs2017635491,2
    --16220688(+) GTGAT-/CCACCT 1 -- us2k10--------
    rs1134232921,2
    C--16220753(+) AAAACT/-CTTTT 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1462030731,2
    --16220786(+) TTGCTA/GTGTTG 1 -- us2k10--------
    rs129836531,2
    C,F--16220893(+) tttatT/Ctgttg 1 -- us2k16Minor allele frequency- C:0.15NA WA EA 366
    rs1484343961,2
    C--16221257(+) TGTTTC/TTAGTA 1 -- us2k10--------
    rs1419192711,2
    --16221279(+) TCACCG/TCGTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RAB8A (16222439 - 16245044 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RAB8A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672248CNV Deletion23128226
    nsv833767CNV Loss17160897
    nsv911158CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RAB8A
    DNA2.0 Custom Variant and Variant Library Synthesis for RAB8A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 165040    OMIM disorders: --

    1 disease for RAB8A:    
    About MalaCards
    sphingolipidosis

    2 diseases from the University of Copenhagen DISEASES database for RAB8A:
    Bardet-Biedl syndrome     Melanoma

    Find genes that share disorders with RAB8A           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: RAB8A (1 document)

    Export disorders for RAB8A 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 RAB8A gene, integrated from 10 sources (see all 92):
    (articles sorted by number of sources associating them with RAB8A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The MEL gene: a new member of the RAB/YPT class of RAS-related genes. (PubMed id 1886711)1, 2, 3, 9 Nimmo E.R....Johnson K.J. (Oncogene 1991)
    2. MICAL-L1 links EHD1 to tubular recycling endosomes and regulates receptor recycling. (PubMed id 19864458)1, 2 Sharma M....Caplan S. (Mol. Biol. Cell 2009)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    4. Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis. (PubMed id 15837803)1, 2 Sahlender D.A.... Buss F. (J. Cell Biol. 2005)
    5. 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)
    6. A Rab8-specific GDP/GTP exchange factor is involved in actin remodeling and polarized membrane transport. (PubMed id 12221131)1, 2 Hattula K.... Peranen J. (Mol. Biol. Cell 2002)
    7. A small rab GTPase is distributed in cytoplasmic vesicles in non polarized cells but colocalizes with the tight junction marker ZO-1 in polarized epithelial cells. (PubMed id 8294494)1, 2 Zahraoui A.... Louvard D. (J. Cell Biol. 1994)
    8. Rab8, a small GTPase involved in vesicular traffic between the TGN and the basolateral plasma membrane. (PubMed id 8408203)1, 3 Huber L.A....Simons K. (J. Cell Biol. 1993)
    9. Isoprenylation of Rab proteins possessing a C-terminal CaaX motif. (PubMed id 8375503)1, 2 Joberty G.... Zahraoui A. (FEBS Lett. 1993)
    10. In its active form, the GTP-binding protein rab8 interacts with a stress-activated protein kinase. (PubMed id 8643544)1, 9 Ren M....Sabatini D.D. (Proc. Natl. Acad. Sci. U.S.A. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 4218 HGNC: 7007 AceView: RAB8AandHSH2D Ensembl:ENSG00000167461 euGenes: HUgn4218
    ECgene: RAB8A Kegg: 4218 H-InvDB: RAB8A

    (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 RAB8A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB8A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RAB8A gene:
    Search GeneIP for patents involving RAB8A

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



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