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 re... See more...

Aliases for RAB6A Gene

Aliases for RAB6A Gene

  • RAB6A, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-6A 3 4
  • RAB6 3 4
  • RAB6, Member RAS Oncogene Family 3
  • Rab GTPase 3
  • RAB6A 5
  • Rab-6 4

External Ids for RAB6A Gene

Previous HGNC Symbols for RAB6A Gene

  • RAB6

Previous GeneCards Identifiers for RAB6A Gene

  • GC11M075714
  • GC11M074926
  • GC11M073609
  • GC11M073113
  • GC11M073112
  • GC11M073064
  • GC11M073386
  • GC11M069682

Summaries for RAB6A Gene

Entrez Gene Summary for RAB6A Gene

  • 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]

GeneCards Summary for RAB6A Gene

RAB6A (RAB6A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB6A include Choroideremia and Geroderma Osteodysplasticum. Among its related pathways are Pre-NOTCH Expression and Processing and Retrograde transport at the Trans-Golgi-Network. Gene Ontology (GO) annotations related to this gene include GTP binding and protein domain specific binding. An important paralog of this gene is RAB6C.

UniProtKB/Swiss-Prot Summary for RAB6A Gene

  • Protein transport. Regulator of membrane traffic from the Golgi apparatus towards the endoplasmic reticulum (ER). Has a low GTPase activity. Involved in COPI-independent retrograde transport from the Golgi to the ER (PubMed:25962623).

Gene Wiki entry for RAB6A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB6A Gene

Genomics for RAB6A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB6A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J073757 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.3 1339 4.8 BCLAF1 SP1 ZNF207 ZNF600 MYC IKZF1 SIX5 SSRP1 ATF2 POLR2A ENSG00000256034 lnc-COA4-4 RAB6A MRPL48 POLD3 ENSG00000206913 ENSG00000255928 PAAF1 COA4 RNF169
GH11J073786 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 22.7 -27.2 -27224 3.2 BCLAF1 SP1 ZNF207 IKZF1 NCOR1 MYC ZNF600 SSRP1 ZNF580 ATF2 MRPL48 POLD3 ARPC3P4 RAB6A ENSG00000206913 C2CD3 P4HA3 RNF169 ENSG00000256034 LOC100287896
GH11J073778 Promoter/Enhancer 1.7 FANTOM5 ENCODE CraniofacialAtlas 11.8 -18.8 -18839 2.7 BCLAF1 SP1 IKZF1 MYC ZNF600 SIX5 JUND ATF2 POLR2A CEBPA MRPL48 RAB6A UCP2 FAM168A piR-56759-087
GH11J073950 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 11.6 -190.0 -190011 0.5 SIX5 MXD4 SIN3A ETS1 MBD2 ZNF217 KMT2B THAP11 HCFC1 SAP130 DNAJB13 RAB6A ENSG00000255847 UCP2
GH11J073783 Enhancer 1.1 Ensembl ENCODE 11.7 -23.2 -23239 2.5 NCOR1 MYC IKZF1 ZNF592 ATF2 CEBPA ATF3 ZIC2 YY1 CEBPB ARPC3P4 RAB6A P4HA3 UCP2 MRPL48 piR-56759-087
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB6A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB6A

Top Transcription factor binding sites by QIAGEN in the RAB6A gene promoter:
  • Bach1
  • FOXO4
  • HFH-1
  • IRF-7A
  • NF-1
  • NF-1/L
  • NF-kappaB1
  • Olf-1
  • Pax-4a
  • Sp1

Genomic Locations for RAB6A Gene

Latest Assembly
chr11:73,675,638-73,761,137
(GRCh38/hg38)
Size:
85,500 bases
Orientation:
Minus strand

Previous Assembly
chr11:73,386,683-73,472,119
(GRCh37/hg19 by Entrez Gene)
Size:
85,437 bases
Orientation:
Minus strand

chr11:73,386,683-73,472,182
(GRCh37/hg19 by Ensembl)
Size:
85,500 bases
Orientation:
Minus strand

Genomic View for RAB6A Gene

Genes around RAB6A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB6A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB6A Gene

Proteins for RAB6A Gene

  • Protein details for RAB6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20340-RAB6A_HUMAN
    Recommended name:
    Ras-related protein Rab-6A
    Protein Accession:
    P20340
    Secondary Accessions:
    • A8K133
    • B7Z772
    • F5H668
    • Q1W5D8
    • Q5U0A8
    • Q9UBE4

    Protein attributes for RAB6A Gene

    Size:
    208 amino acids
    Molecular mass:
    23593 Da
    Quaternary structure:
    • Interacts with BICDL1; leads to its accumulation in the pericentrosomal region (By similarity). Interacts with SCYL1BP1. Interacts with VSP52 and RABGAP1. Interacts with GCC2 (via its GRIP domain). Interacts with RAB6IP1 (via its RUN 1 domain). Isoform 1 interacts with RAB6KIFL. Isoform 2 does not interact with RAB6KIFL. Isoform 1 interacts with BICD1. Isoform 2 interacts with BICD1. Isoform 1 interacts with BICD2. Isoform 2 interacts with BICD2. Interacts with TMF1. Isoform 1 (GTP-bound) interacts with DYNLRB1; the interaction is direct. Isoform 2 (GDP-bound) interacts with DYNLRB1; the interaction is direct. Interacts with PIFO. Interacts (GTP-bound) with APBA1/MINT1 isoform 2, also called Mint1_826, but not with isoform 1. Interacts with RIC1 and RGP1; the interactions are direct with a preference for RAB6A-GDP.
    • (Microbial infection) Interacts with human cytomegalovirus protein UL32.

    Three dimensional structures from OCA and Proteopedia for RAB6A Gene

    Alternative splice isoforms for RAB6A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB6A Gene

Post-translational modifications for RAB6A Gene

No data available for DME Specific Peptides for RAB6A Gene

Domains & Families for RAB6A Gene

Gene Families for RAB6A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB6A Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature

Suggested Antigen Peptide Sequences for RAB6A Gene

GenScript: Design optimal peptide antigens:
  • RAB6A protein (Q6FGX3_HUMAN)
  • Ras-related protein Rab-6A (RAB6A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20340

UniProtKB/Swiss-Prot:

RAB6A_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB6A: view

Function for RAB6A Gene

Molecular function for RAB6A Gene

UniProtKB/Swiss-Prot Function:
Protein transport. Regulator of membrane traffic from the Golgi apparatus towards the endoplasmic reticulum (ER). Has a low GTPase activity. Involved in COPI-independent retrograde transport from the Golgi to the ER (PubMed:25962623).

Phenotypes From GWAS Catalog for RAB6A Gene

Gene Ontology (GO) - Molecular Function for RAB6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity TAS,IDA 16332443
GO:0005515 protein binding IPI 12391317
GO:0005525 GTP binding IDA 16332443
GO:0019904 protein domain specific binding IPI 12447383
genes like me logo Genes that share ontologies with RAB6A: view
genes like me logo Genes that share phenotypes with RAB6A: view

Animal Models for RAB6A Gene

MGI Knock Outs for RAB6A:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB6A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB6A Gene

Localization for RAB6A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB6A Gene

Golgi apparatus membrane. Lipid-anchor. Note=BICD2 facilitates its targeting to Golgi apparatus membrane. {ECO:0000269 PubMed:25962623}.
[Isoform 1]: Golgi apparatus membrane. Lipid-anchor.
[Isoform 2]: Golgi apparatus membrane. Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB6A gene
Compartment Confidence
cytosol 5
golgi apparatus 5
plasma membrane 4
extracellular 4
cytoskeleton 3
nucleus 3
endosome 3
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IBA,IDA 11121396
GO:0005802 trans-Golgi network IDA 12447383
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with RAB6A: view

Pathways & Interactions for RAB6A Gene

genes like me logo Genes that share pathways with RAB6A: view

Pathways by source for RAB6A Gene

1 Qiagen pathway for RAB6A Gene
  • Epithelial Tight Junctions
1 Cell Signaling Technology pathway for RAB6A Gene

Gene Ontology (GO) - Biological Process for RAB6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS 12447383
GO:0006891 intra-Golgi vesicle-mediated transport IBA 21873635
GO:0015031 protein transport IEA --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with RAB6A: view

No data available for SIGNOR curated interactions for RAB6A Gene

Drugs & Compounds for RAB6A Gene

(11) Drugs for RAB6A Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma Target 0

(6) Additional Compounds for RAB6A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAB6A: view

Transcripts for RAB6A Gene

mRNA/cDNA for RAB6A Gene

4 REFSEQ mRNAs :
30 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB6A

Alternative Splicing Database (ASD) splice patterns (SP) for RAB6A Gene

No ASD Table

Relevant External Links for RAB6A Gene

GeneLoc Exon Structure for
RAB6A

Expression for RAB6A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB6A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB6A Gene



Protein tissue co-expression partners for RAB6A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB6A

SOURCE GeneReport for Unigene cluster for RAB6A Gene:

Hs.503222

mRNA Expression by UniProt/SwissProt for RAB6A Gene:

P20340-RAB6A_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RAB6A Gene

  • Nervous system(5)
  • Kidney(4.6)
  • Heart(4.5)
  • Blood(4.5)
  • Liver(4.5)
  • Spleen(4.4)
  • Intestine(3.5)
  • Lung(2.8)
  • Skin(2.8)
  • Muscle(2.5)
  • Eye(2.4)
  • Adrenal gland(2.3)
  • Thyroid gland(2.2)
  • Stomach(2.1)
  • Lymph node(2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with RAB6A: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB6A Gene

Orthologs for RAB6A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB6A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB6A 29
  • 99.11 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 97 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 96 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Rab6a 29 16 30
  • 95.35 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Rab6a 29
  • 95.19 (n)
Chicken
(Gallus gallus)
Aves RAB6A 29 30
  • 89.58 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 99 (a)
ManyToMany
-- 30
  • 92 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100124772 29
  • 77.07 (n)
MGC76176 29
African clawed frog
(Xenopus laevis)
Amphibia rab6-prov 29
Zebrafish
(Danio rerio)
Actinopterygii CU694807.1 30
  • 97 (a)
ManyToMany
rab6a 30
  • 97 (a)
ManyToMany
zgc:63637 29
  • 78.05 (n)
Dr.28607 29
Fruit Fly
(Drosophila melanogaster)
Insecta Rab6 30 31
  • 87 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rab-6.2 30
  • 81 (a)
OneToMany
rab-6.1 29
  • 67.99 (n)
C56E6.2 31
  • 38 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT6 30
  • 60 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RAB6A 29
  • 68.33 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10020 29
Rice
(Oryza sativa)
Liliopsida Os07g0496000 29
  • 66.67 (n)
Os.6032 29
Barley
(Hordeum vulgare)
Liliopsida Hv.1285 29
Wheat
(Triticum aestivum)
Liliopsida Ta.28749 29
Corn
(Zea mays)
Liliopsida Zm.8122 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10389 30
  • 86 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14559 29
Species where no ortholog for RAB6A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RAB6A Gene

ENSEMBL:
Gene Tree for RAB6A (if available)
TreeFam:
Gene Tree for RAB6A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB6A: view image
Alliance of Genome Resources:
Additional Orthologs for RAB6A

Paralogs for RAB6A Gene

genes like me logo Genes that share paralogs with RAB6A: view

Variants for RAB6A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB6A Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs41298115 Benign: not provided 73,677,911(-) C/G
NM_198896.2(RAB6A):c.614G>C (p.Gly205Ala)
MISSENSE
rs61758773 Benign: not provided 73,718,840(-) G/T
NM_198896.2(RAB6A):c.184-122C>A
SYNONYMOUS_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB6A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RAB6A Gene

Variant ID Type Subtype PubMed ID
esv22024 CNV loss 19812545
esv25152 CNV loss 19812545
esv2665533 CNV deletion 23128226
esv2744772 CNV deletion 23290073
esv3626818 CNV loss 21293372
esv3626819 CNV loss 21293372
nsv1045149 CNV gain 25217958
nsv390 CNV deletion 18451855
nsv474232 CNV novel sequence insertion 20440878
nsv510260 OTHER sequence alteration 20534489
nsv983043 CNV duplication 23825009

Variation tolerance for RAB6A Gene

Residual Variation Intolerance Score: 36.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB6A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB6A
Leiden Open Variation Database (LOVD)
RAB6A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB6A Gene

Disorders for RAB6A Gene

MalaCards: The human disease database

(14) MalaCards diseases for RAB6A Gene - From: COP and GCD

Disorder Aliases PubMed IDs
choroideremia
  • chm
geroderma osteodysplasticum
  • go
proximal spinal muscular atrophy
  • sma
cutis laxa, autosomal recessive, type iia
  • arcl2a
autosomal recessive cutis laxa type iii
  • cutis laxa-corneal clouding-intellectual disability syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RAB6A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB6A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RAB6A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB6A Gene

Publications for RAB6A Gene

  1. Rab and Arl GTPase family members cooperate in the localization of the golgin GCC185. (PMID: 18243103) Burguete AS … Pfeffer SR (Cell 2008) 3 4 22
  2. Rab6 family proteins interact with the dynein light chain protein DYNLRB1. (PMID: 18044744) Wanschers B … Fransen J (Cell motility and the cytoskeleton 2008) 3 4 22
  3. Reconstitution of the targeting of Rab6A to the Golgi apparatus in semi-intact HeLa cells: A role of BICD2 in stabilizing Rab6A on Golgi membranes and a concerted role of Rab6A/BICD2 interactions in Golgi-to-ER retrograde transport. (PMID: 25962623) Matsuto M … Murata M (Biochimica et biophysica acta 2015) 3 4
  4. A new Mint1 isoform, but not the conventional Mint1, interacts with the small GTPase Rab6. (PMID: 23737971) Thyrock A … Barnekow A (PloS one 2013) 3 4
  5. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. (PMID: 23664119) Peeters K … Jordanova A (American journal of human genetics 2013) 3 4

Products for RAB6A Gene

Sources for RAB6A Gene