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

Gene ID: 5870, updated on 7-Apr-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
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Genomic context

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Location:
11q13.4
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (73675638..73761074, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (73604789..73690219, complement)
105.20220307 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
  • 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. 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
  2. RAB6 and microtubules restrict protein secretion to focal adhesions. Fourriere L, et al. J Cell Biol, 2019 Jul 1. PMID 31142554, Free PMC Article
  3. Targeting of the small GTPase Rab6A' by the Legionella pneumophila effector LidA. Chen Y, et al. Infect Immun, 2013 Jun. PMID 23569112, Free PMC Article
  4. Crystal structure of Rab6A'(Q72L) mutant reveals unexpected GDP/Mg²⁺ binding with opened GTP-binding domain. Shin YC, et al. Biochem Biophys Res Commun, 2012 Jul 27. PMID 22750005
  5. Rab6 is a modulator of the unfolded protein response: implications for Alzheimer's disease. Elfrink HL, et al. J Alzheimers Dis, 2012. PMID 22124028

See all (149) 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 localization EXP
Inferred from Experiment
more info
 PubMed 
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 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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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_2023_10

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

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