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

Gene ID: 5870, updated on 17-May-2020

Summary

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
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

Genomic context

See RAB6A in Genome Data Viewer
Location:
11q13.4
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (73675638..73761074, 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 MIA SH3 domain ER export factor 2 pseudogene Neighboring gene pleckstrin homology domain containing B1 Neighboring gene musashi RNA binding protein 1 pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr11.4166 Neighboring gene mitochondrial ribosomal protein L48 Neighboring gene RN7SK pseudogene 243

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
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
Rab protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
intra-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retrograde vesicle-mediated transport, Golgi to ER IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 HDA 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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001243718.2NP_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: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, ENST00000541973.5
    Conserved Domains (1) summary
    cd01861
    Location:1141
    Rab6; Rab GTPase family 6 (Rab6)
  3. NM_002869.5NP_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/Swiss-Prot
    P20340
    UniProtKB/TrEMBL
    A0A024R5H8
    Related
    ENSP00000311449.5, ENST00000310653.10
    Conserved Domains (1) summary
    cd01861
    Location:14174
    Rab6; Rab GTPase family 6 (Rab6)
  4. NM_198896.2NP_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
    P20340
    UniProtKB/TrEMBL
    A0A024R5J5
    Related
    ENSP00000336850.3, ENST00000336083.7
    Conserved Domains (1) summary
    cd01861
    Location:14174
    Rab6; Rab GTPase family 6 (Rab6)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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