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    RAB6A RAB6A, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 5870, updated on 8-Oct-2017
    Official Symbol
    RAB6Aprovided by HGNC
    Official Full Name
    RAB6A, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:9786
    See related
    Ensembl:ENSG00000175582 MIM:179513; Vega:OTTHUMG00000134308
    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
    Also known as
    RAB6
    Summary
    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]
    Orthologs
    Location:
    11q13.4
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (73675638..73761156, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73386683..73472201, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene melanoma inhibitory activity 2 pseudogene Neighboring gene pleckstrin homology domain containing B1 Neighboring gene musashi RNA binding protein 1 pseudogene Neighboring gene mitochondrial ribosomal protein L48 Neighboring gene RNA, 7SK small nuclear pseudogene 243 Neighboring gene coiled-coil domain containing 58 pseudogene 5

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of RAB6A, member RAS oncogene family by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env RAB6 is involved in membrane fusion mediated by the envelope protein gp120/gp41 of HIV-1 and the CD4 receptor PubMed
    Envelope transmembrane glycoprotein gp41 env RAB6 is involved in membrane fusion mediated by the envelope protein gp120/gp41 of HIV-1 and the CD4 receptor PubMed

    Go to the HIV-1, Human Interaction Database

    • COPI-independent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
      COPI-independent Golgi-to-ER retrograde traffic, organism-specific biosystemIn addition to the better characterized COPI-dependent retrograde Golgi-to-ER pathway, a second COPI-independent pathway has also been identified. This pathway is RAB6 dependent and transports cargo...
    • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
      Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
      Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Pre-NOTCH Expression and Processing, organism-specific biosystem (from REACTOME)
      Pre-NOTCH Expression and Processing, organism-specific biosystemIn humans and other mammals the NOTCH gene family has four members, NOTCH1, NOTCH2, NOTCH3 and NOTCH4, encoded on four different chromosomes. Their transcription is developmentally regulated and tiss...
    • Pre-NOTCH Processing in Golgi, organism-specific biosystem (from REACTOME)
      Pre-NOTCH Processing in Golgi, organism-specific biosystemNOTCH undergoes final posttranslational processing in the Golgi apparatus (Lardelli et al. 1994, Blaumueller et al. 1997, Weinmaster et al. 1991, Weinmaster et al. 1992, Uyttendaele et al. 1996). Mov...
    • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
      RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
    • RAB geranylgeranylation, organism-specific biosystem (from REACTOME)
      RAB geranylgeranylation, organism-specific biosystemHuman cells have more than 60 RAB proteins that are involved in trafficking of proteins in the endolysosomal system. These small GTPases contribute to trafficking specificity by localizing to the mem...
    • Retrograde transport at the Trans-Golgi-Network, organism-specific biosystem (from REACTOME)
      Retrograde transport at the Trans-Golgi-Network, organism-specific biosystemThe trans-Golgi network is the docking site for retrograde cargo from the endolysosomal system and the plasma membrane. Typical cargo includes recycling resident TGN proteins such as TGOLN2 (also kn...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • TBC/RABGAPs, organism-specific biosystem (from REACTOME)
      TBC/RABGAPs, organism-specific biosystemRab GTPases are peripheral membrane proteins involved in membrane trafficking. Often through their indirect interactions with coat components, motors, tethering factors and SNAREs, the Rab GTPases se...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    protein domain specific 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 
    early endosome to Golgi transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane organization TAS
    Traceable Author Statement
    more info
     
    minus-end-directed organelle transport along microtubule TAS
    Traceable Author Statement
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    peptidyl-cysteine methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein targeting to Golgi IDA
    Inferred from Direct Assay
    more info
    PubMed 
    retrograde vesicle-mediated transport, Golgi to ER IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retrograde vesicle-mediated transport, Golgi to ER TAS
    Traceable Author Statement
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    endosome to plasma membrane transport vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    secretory granule membrane TAS
    Traceable Author Statement
    more info
     
    trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    ras-related protein Rab-6A
    Names
    RAB6, member RAS oncogene family
    Rab GTPase

    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.

    Genomic

    1. NG_029821.1 RefSeqGene

      Range
      5001..90519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243718.1NP_001230647.1  ras-related protein Rab-6A isoform d

      See identical proteins and their annotated locations for NP_001230647.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two consecutive exons in the coding region, and the reading frame is not affected, compared to variant 1. The resulting isoform (d) lacks an internal segment, compared to isoform a.
      Source sequence(s)
      AK223551, AP002993, BI545554, DQ437503
      Consensus CDS
      CCDS58156.1
      UniProtKB/Swiss-Prot
      P20340
      UniProtKB/TrEMBL
      Q53ET8
      Related
      ENSP00000445350.1, OTTHUMP00000237662, ENST00000541588.5, OTTHUMT00000397651
      Conserved Domains (1) summary
      cl21455
      Location:1462
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001243719.1NP_001230648.1  ras-related protein Rab-6A isoform c

      See identical proteins and their annotated locations for NP_001230648.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (c) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AK301534, AP002993
      Consensus CDS
      CCDS58155.1
      UniProtKB/Swiss-Prot
      P20340
      Related
      ENSP00000443782.2, OTTHUMP00000237642, ENST00000541973.5, OTTHUMT00000397618
      Conserved Domains (1) summary
      cd01861
      Location:1141
      Rab6; Rab GTPase family 6 (Rab6)
    3. NM_002869.4NP_002860.2  ras-related protein Rab-6A isoform a

      See identical proteins and their annotated locations for NP_002860.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a, also known as RAB6A' or RAB6C.
      Source sequence(s)
      BC003617, BI545554, BU685989, CB067721, CB989138
      Consensus CDS
      CCDS8223.1
      UniProtKB/Swiss-Prot
      P20340
      UniProtKB/TrEMBL
      A0A024R5H8
      Related
      ENSP00000311449.5, OTTHUMP00000165966, ENST00000310653.10, OTTHUMT00000259240
      Conserved Domains (2) summary
      smart00175
      Location:14171
      RAB; Rab subfamily of small GTPases
      cd01861
      Location:14174
      Rab6; Rab GTPase family 6 (Rab6)
    4. NM_198896.1NP_942599.1  ras-related protein Rab-6A isoform b

      See identical proteins and their annotated locations for NP_942599.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate exon with the same size in the coding region, compared to variant 1. The resulting isoform (b, also known as RAB6A) is the same size but has three different aa in an internal segment, compared to isoform a.
      Source sequence(s)
      BC003617, BI545554, BI552973, BQ422263, BU685989, CB067721, CB989138
      Consensus CDS
      CCDS8224.1
      UniProtKB/Swiss-Prot
      P20340
      UniProtKB/TrEMBL
      A0A024R5J5
      Related
      ENSP00000336850.3, OTTHUMP00000165967, ENST00000336083.7, OTTHUMT00000259241
      Conserved Domains (2) summary
      smart00175
      Location:14171
      RAB; Rab subfamily of small GTPases
      cd01861
      Location:14174
      Rab6; Rab GTPase family 6 (Rab6)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      73675638..73761156 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      73270356..73355857 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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