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

    Gene ID: 5870, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:9786
    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]
    Expression
    Ubiquitous expression in brain (RPKM 87.2), thyroid (RPKM 53.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAB6A in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (73675638..73761074, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (73604789..73690219, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73386683..73472119, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MIA SH3 domain ER export factor 2 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73357191-73358109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5239 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr11:73371326-73372170 and GRCh37_chr11:73372171-73373013 Neighboring gene pleckstrin homology domain containing B1 Neighboring gene musashi RNA binding protein 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73461590-73462090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73462091-73462591 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73471270-73471770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3748 Neighboring gene uncharacterized LOC124902711 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73487605-73488471 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73508167-73508686 Neighboring gene mitochondrial ribosomal protein L48 Neighboring gene MPRA-validated peak1351 silencer Neighboring gene RN7SK pseudogene 243

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Rab6 is a modulator of the unfolded protein response: implications for Alzheimer's disease. Elfrink HL, et al. J Alzheimers Dis, 2012. PMID 22124028
    2. Rab6 is increased in Alzheimer's disease brain and correlates with endoplasmic reticulum stress. Scheper W, et al. Neuropathol Appl Neurobiol, 2007 Oct. PMID 17573808
    3. Small GTPase RAB6 deficiency promotes alveolar progenitor cell renewal and attenuates PM2.5-induced lung injury and fibrosis. Yang L, et al. Cell Death Dis, 2020 Oct 4. PMID 33012781, Free PMC Article
    4. Rab6 regulates transport and targeting of exocytotic carriers. Grigoriev I, et al. Dev Cell, 2007 Aug. PMID 17681140
    5. Rab and actomyosin-dependent fission of transport vesicles at the Golgi complex. Miserey-Lenkei S, et al. Nat Cell Biol, 2010 Jul. PMID 20562865

    See all (171) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RAB6A functions as a critical modulator of the stem-like subsets in cholangiocarcinoma.
      Title: RAB6A functions as a critical modulator of the stem-like subsets in cholangiocarcinoma.
    2. Small GTPase RAB6 deficiency promotes alveolar progenitor cell renewal and attenuates PM2.5-induced lung injury and fibrosis.
      Title: Small GTPase RAB6 deficiency promotes alveolar progenitor cell renewal and attenuates PM2.5-induced lung injury and fibrosis.
    3. Rab6 regulates recycling and retrograde trafficking of MR1 molecules.
      Title: Rab6 regulates recycling and retrograde trafficking of MR1 molecules.
    4. We observed that, irrespective of the transported cargos, most post-Golgi carriers are positive for RAB6 and that its inactivation leads to a broad reduction of protein secretion. RAB6 may thus be a general regulator of post-Golgi secretion.
      Title: RAB6 and microtubules restrict protein secretion to focal adhesions.
    5. it was suggested that ARHGEF10 is involved in the regulation of Rab6A and Rab8A localization and invasion of breast carcinoma cells, in which Rab8 also acts via regulation of membrane trafficking.
      Title: Involvement of ARHGEF10, GEF for RhoA, in Rab6/Rab8-mediating membrane traffic.
    6. LAT, once internalized, transits through the Golgi-trans-Golgi network (TGN), where it is repolarized to the immune synapse.
      Title: Rab6-dependent retrograde traffic of LAT controls immune synapse formation and T cell activation.
    7. These results suggest that miR-5100 increases the cisplatin resistance of the lung cancer stem cells by inhibiting the Rab6.
      Title: MiR-5100 increases the cisplatin resistance of the lung cancer stem cells by inhibiting the Rab6.
    8. Ectopic expression of an N-terminal-truncated ARHGEF10 mutant led to the generation of large vesicle-like structures containing both Rab6 and Rab8.
      Title: ARHGEF10 directs the localization of Rab8 to Rab6-positive executive vesicles.
    9. Rab6A binding to KIF1C's motor domain represents an entirely new mode of regulation for a kinesin motor, and likely has important consequences for KIF1C's cellular functions.
      Title: Rab6 regulation of the kinesin family KIF1C motor domain contributes to Golgi tethering.
    10. GORAB missense mutation disrupt RAB6 protein binding in genetic skin diseases.
      Title: GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables myosin V binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in antigen processing and presentation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in early endosome to Golgi transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intra-Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in minus-end-directed organelle transport along microtubule TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in neuron projection development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within peptidyl-cysteine methylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to Golgi membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in acrosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in endosome to plasma membrane transport vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in secretory granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ras-related protein Rab-6A
    Names
    RAB6, member RAS oncogene family
    Rab GTPase

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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
      5083..90519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243718.2 → NP_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, ENST00000541588.5
      Conserved Domains (1) summary
      cl21455
      Location:14 → 62
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_001243719.2 → NP_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, AP002770, AP002993
      Consensus CDS
      CCDS58155.1
      UniProtKB/TrEMBL
      Q53ET8, Q6FGX3
      Related
      ENSP00000443782.2, ENST00000541973.5
      Conserved Domains (1) summary
      cd01861
      Location:1 → 141
      Rab6; Rab GTPase family 6 (Rab6)

    3. NM_002869.5 → NP_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, BU685989, CB067721, CB989138
      Consensus CDS
      CCDS8223.1
      UniProtKB/TrEMBL
      Q53ET8, Q6FGX3
      Related
      ENSP00000311449.5, ENST00000310653.10
      Conserved Domains (1) summary
      cd01861
      Location:14 → 174
      Rab6; Rab GTPase family 6 (Rab6)

    4. NM_198896.2 → NP_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, BI552973, BQ422263, BU685989, CB067721, CB989138
      Consensus CDS
      CCDS8224.1
      UniProtKB/Swiss-Prot
      A8K133, B7Z772, F5H668, P20340, Q1W5D8, Q5U0A8, Q9UBE4
      UniProtKB/TrEMBL
      A0A024R5J5, Q53ET8, Q6FGX3
      Related
      ENSP00000336850.3, ENST00000336083.8
      Conserved Domains (1) summary
      cd01861
      Location:14 → 174
      Rab6; Rab GTPase family 6 (Rab6)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      73675638..73761074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      73604789..73690219 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P20340.3 GenPept UniProtKB/Swiss-Prot:P20340

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
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    Molecular Biology Databases
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