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Aliases for RAB6A Gene

Aliases for RAB6A Gene

  • RAB6A, Member RAS Oncogene Family 2 3 5
  • RAB6 3 4
  • RAB6, Member RAS Oncogene Family 3
  • Ras-Related Protein Rab-6A 3
  • Rab GTPase 3
  • 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 Proximal Spinal Muscular Atrophy and Deafness, Autosomal Recessive 63. Among its related pathways are COPI-independent Golgi-to-ER retrograde traffic and Metabolism of proteins. 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 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

Additional gene information for RAB6A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB6A Gene

Genomics for RAB6A Gene

GeneHancer (GH) Regulatory Elements for RAB6A Gene

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
GH11I073757 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +1.5 1452 4.6 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ENSG00000256034 RAB6A MRPL48 POLD3 ENSG00000206913 ENSG00000255928 COA4 PAAF1 RNF169 PLEKHB1
GH11I073786 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.7 -27.2 -27205 3.2 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MRPL48 POLD3 ENSG00000206913 RNF169 ARPC3P4 RAB6A C2CD3 P4HA3 ENSG00000256034 ENSG00000254837
GH11I073778 Enhancer 1.6 FANTOM5 Ensembl ENCODE 11.8 -18.8 -18820 2.7 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 MRPL48 RAB6A UCP2 FAM168A
GH11I073783 Enhancer 1.2 Ensembl ENCODE 11.7 -23.2 -23220 2.5 HDGF ATF1 ARNT ZNF48 YY1 POLR2B ZNF766 E2F8 ATF7 DEK RAB6A UCP2 MRPL48
GH11I073866 Enhancer 0.9 Ensembl ENCODE 14.5 -107.3 -107313 4.8 MEIS2 PKNOX1 FOXA2 SIN3A FOSL1 ZNF664 ZNF316 POLR2A NFATC1 RCOR1 MRPL48 RAB6A ENSG00000256034 ENSG00000255928 PLEKHB1 PAAF1 CCDC58P5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RAB6A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB6A gene promoter:

Genomic Locations for RAB6A Gene

Genomic Locations for RAB6A Gene
chr11:73,675,638-73,761,156
(GRCh38/hg38)
Size:
85,519 bases
Orientation:
Minus strand
chr11:73,386,683-73,472,201
(GRCh37/hg19)

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. Interacts with human cytomegalovirus protein UL32 (PubMed:21411515).

    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

Suggested Antigen Peptide Sequences for RAB6A Gene

GenScript: Design optimal peptide antigens:

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 IDA,IEA 16332443
GO:0005515 protein binding IPI 12391317
GO:0005525 GTP binding IDA,IEA 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
cytoskeleton 3
nucleus 3
endosome 2
lysosome 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 IDA,IEA 11121396
GO:0005802 trans-Golgi network IDA 12447383
GO:0005829 cytosol TAS,IDA --
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

Gene Ontology (GO) - Biological Process for RAB6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000042 protein targeting to Golgi IDA 18243103
GO:0006810 transport IEA --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS 12447383
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

(10) Drugs for RAB6A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(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

Unigene Clusters for RAB6A Gene

RAB6A, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for RAB6A Gene

GeneLoc Exon Structure for
RAB6A
ECgene alternative splicing isoforms for
RAB6A

Expression for RAB6A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for RAB6A Gene



Protein tissue co-expression partners for RAB6A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAB6A Gene:

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(4.5)
  • Blood(4.3)
  • Heart(4.3)
  • Liver(4.3)
  • Spleen(4.3)
  • Intestine(3.1)
  • Lung(2.2)
  • Skin(2.2)
  • Eye(2.1)
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 33
  • 99.11 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 97 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 96 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rab6a 33 16 34
  • 95.35 (n)
rat
(Rattus norvegicus)
Mammalia Rab6a 33
  • 95.19 (n)
chicken
(Gallus gallus)
Aves RAB6A 33 34
  • 89.58 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 99 (a)
ManyToMany
-- 34
  • 92 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100124772 33
  • 77.07 (n)
MGC76176 33
African clawed frog
(Xenopus laevis)
Amphibia rab6-prov 33
zebrafish
(Danio rerio)
Actinopterygii CU694807.1 34
  • 97 (a)
ManyToMany
rab6a 34
  • 97 (a)
ManyToMany
zgc:63637 33
  • 78.05 (n)
Dr.28607 33
fruit fly
(Drosophila melanogaster)
Insecta Rab6 35 34
  • 85 (a)
worm
(Caenorhabditis elegans)
Secernentea rab-6.2 34
  • 81 (a)
OneToMany
rab-6.1 33
  • 67.99 (n)
C56E6.2 35
  • 38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT6 34
  • 60 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons RAB6A 33
  • 68.33 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10020 33
rice
(Oryza sativa)
Liliopsida Os07g0496000 33
  • 66.67 (n)
Os.6032 33
barley
(Hordeum vulgare)
Liliopsida Hv.1285 33
wheat
(Triticum aestivum)
Liliopsida Ta.28749 33
corn
(Zea mays)
Liliopsida Zm.8122 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10389 34
  • 86 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14559 33
Species where no ortholog for RAB6A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for RAB6A Gene

Paralogs for RAB6A Gene

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

Variants for RAB6A Gene

Sequence variations from dbSNP and Humsavar for RAB6A Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000009512 -- 73,702,383(-) G/A intron_variant
rs1000033049 -- 73,707,140(-) /G intron_variant
rs1000076706 -- 73,747,149(-) A/C intron_variant
rs1000144318 -- 73,744,020(-) C/T intron_variant
rs1000159740 -- 73,712,636(-) C/A intron_variant

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

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

Disorders for RAB6A Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAB6A Gene - From: DISEASES and GeneCards

- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 58
  2. 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 58
  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 58
  4. 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 58
  5. 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 58

Products for RAB6A Gene

  • Addgene plasmids for RAB6A

Sources for RAB6A Gene

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