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Aliases for RABL6 Gene

Aliases for RABL6 Gene

  • RAB, Member RAS Oncogene Family Like 6 2 3 5
  • Partner Of ARF 2 3 4
  • Rab-Like Protein 1 2 4
  • C9orf86 3 4
  • RBEL1 3 4
  • PARF 3 4
  • Chromosome 9 Open Reading Frame 86 2
  • Putative GTP-Binding Protein Parf 3
  • Rab-Like GTP-Binding Protein 1C 3
  • GTP-Binding Protein Parf 4
  • Rab-Like Protein 6 3
  • Pp8875 3

External Ids for RABL6 Gene

Previous HGNC Symbols for RABL6 Gene

  • C9orf86

Previous GeneCards Identifiers for RABL6 Gene

  • GC09P139702

Summaries for RABL6 Gene

Entrez Gene Summary for RABL6 Gene

  • This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for RABL6 Gene

RABL6 (RAB, Member RAS Oncogene Family Like 6) is a Protein Coding gene. Diseases associated with RABL6 include Pancreatic Neuroendocrine Tumor. Gene Ontology (GO) annotations related to this gene include GTP binding.

UniProtKB/Swiss-Prot for RABL6 Gene

  • May enhance cellular proliferation. May reduce growth inhibitory activity of CDKN2A.

Gene Wiki entry for RABL6 Gene

Additional gene information for RABL6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RABL6 Gene

Genomics for RABL6 Gene

GeneHancer (GH) Regulatory Elements for RABL6 Gene

Promoters and enhancers for RABL6 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
GH09I136806 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.9 883 4.4 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 CCDC183-AS1 LOC100422233 RABL6 EHMT1 NDOR1 CCDC183 ENSG00000273066 ENSG00000272679
GH09I136807 Enhancer 0.2 ENCODE 550.8 -1.5 -1458 0.2 RABL6 CCDC183-AS1 ENSG00000273066 ENSG00000272679 CCDC183
GH09I136990 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 11.4 +188.1 188093 10.9 HDGF PKNOX1 CLOCK ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B PAXX CLIC3 LCN12 ABCA2 PRR31 C9orf139 INPP5E LCNL1 RABL6 CCDC183
GH09I137233 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 +430.4 430384 9.9 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 TUBB4B EHMT1 SDCCAG3 ANAPC2 NDOR1 DPH7 INPP5E LOC651337 MAN1B1 SNHG7
GH09I136884 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.6 +78.4 78353 3.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZBTB7B POLR2B E2F8 ZNF207 LOC105376326 MIR4479 TRAF2 EHMT1 SDCCAG3 ANAPC2 PHPT1 SNHG7 LOC651337 MAMDC4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RABL6 on UCSC Golden Path with GeneCards custom track

Genomic Locations for RABL6 Gene

Genomic Locations for RABL6 Gene
chr9:136,807,922-136,841,187
(GRCh38/hg38)
Size:
33,266 bases
Orientation:
Plus strand
chr9:139,702,374-139,735,639
(GRCh37/hg19)

Genomic View for RABL6 Gene

Genes around RABL6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RABL6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RABL6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RABL6 Gene

Proteins for RABL6 Gene

  • Protein details for RABL6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3YEC7-RABL6_HUMAN
    Recommended name:
    Rab-like protein 6
    Protein Accession:
    Q3YEC7
    Secondary Accessions:
    • A8QVZ7
    • A8QVZ8
    • C6K8I4
    • C6K8I5
    • Q4F968
    • Q5T5R7
    • Q8IWK1
    • Q8TCL4
    • Q8WU94
    • Q96SR8
    • Q9BU21
    • Q9H935

    Protein attributes for RABL6 Gene

    Size:
    729 amino acids
    Molecular mass:
    79549 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH02945.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH21095.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH35786.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14408.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55213.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for RABL6 Gene

neXtProt entry for RABL6 Gene

Post-translational modifications for RABL6 Gene

No data available for DME Specific Peptides for RABL6 Gene

Domains & Families for RABL6 Gene

Gene Families for RABL6 Gene

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

Protein Domains for RABL6 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q3YEC7

UniProtKB/Swiss-Prot:

RABL6_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 RABL6: view

Function for RABL6 Gene

Molecular function for RABL6 Gene

UniProtKB/Swiss-Prot Function:
May enhance cellular proliferation. May reduce growth inhibitory activity of CDKN2A.

Phenotypes From GWAS Catalog for RABL6 Gene

Gene Ontology (GO) - Molecular Function for RABL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 12646258
GO:0005525 GTP binding IDA 17962191
genes like me logo Genes that share ontologies with RABL6: view
genes like me logo Genes that share phenotypes with RABL6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RABL6 Gene

Localization for RABL6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RABL6 Gene

Isoform 1: Cytoplasm. Note=Predominantly cytoplasmic (PubMed:17962191).
Isoform 3: Nucleus. Note=Predominantly nuclear (PubMed:17962191).

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 RABL6 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RABL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17962191
GO:0005737 cytoplasm IDA 17962191
GO:0005813 centrosome IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with RABL6: view

Pathways & Interactions for RABL6 Gene

SuperPathways for RABL6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RABL6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RABL6 Gene

Drugs & Compounds for RABL6 Gene

No Compound Related Data Available

Transcripts for RABL6 Gene

Unigene Clusters for RABL6 Gene

RAB, member RAS oncogene family-like 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RABL6 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^
SP1: - - - - - - - -
SP2: - - - - - -
SP3: -
SP4: - - - -
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - - - - -
SP13:
SP14:
SP15: - -
SP16:
SP17:

ExUns: 18 ^ 19 ^ 20a · 20b · 20c ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33
SP1:
SP2:
SP3: - - - - - - - -
SP4:
SP5:
SP6: - -
SP7: - -
SP8: - - -
SP9: - -
SP10:
SP11: - -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for RABL6 Gene

GeneLoc Exon Structure for
RABL6
ECgene alternative splicing isoforms for
RABL6

Expression for RABL6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RABL6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RABL6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.5) and Pancreas (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RABL6 Gene



Protein tissue co-expression partners for RABL6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RABL6 Gene:

RABL6

SOURCE GeneReport for Unigene cluster for RABL6 Gene:

Hs.370555

Evidence on tissue expression from TISSUES for RABL6 Gene

  • Kidney(4.3)
  • Nervous system(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with RABL6: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RABL6 Gene

Orthologs for RABL6 Gene

This gene was present in the common ancestor of animals.

Orthologs for RABL6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RABL6 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RABL6 33 34
  • 81.75 (n)
cow
(Bos Taurus)
Mammalia RABL6 33 34
  • 80.95 (n)
rat
(Rattus norvegicus)
Mammalia Rabl6 33
  • 78.35 (n)
mouse
(Mus musculus)
Mammalia Rabl6 33 16 34
  • 77.34 (n)
oppossum
(Monodelphis domestica)
Mammalia RABL6 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RABL6 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves RABL6 33 34
  • 69.95 (n)
lizard
(Anolis carolinensis)
Reptilia RABL6 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rabl6 33
  • 66.33 (n)
Str.4978 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8790 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-102c2.5 33
  • 62.14 (n)
rabl6 34
  • 58 (a)
OneToMany
RABL6 (1 of 2) 34
  • 56 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13972 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012348 33
  • 60.37 (n)
worm
(Caenorhabditis elegans)
Secernentea F08G12.1 34
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7104 34
  • 39 (a)
OneToOne
Species where no ortholog for RABL6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RABL6 Gene

ENSEMBL:
Gene Tree for RABL6 (if available)
TreeFam:
Gene Tree for RABL6 (if available)

Paralogs for RABL6 Gene

(1) SIMAP similar genes for RABL6 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with RABL6: view

No data available for Paralogs for RABL6 Gene

Variants for RABL6 Gene

Sequence variations from dbSNP and Humsavar for RABL6 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000102818 -- 136,826,736(+) G/A intron_variant
rs1000126799 -- 136,829,595(+) G/A intron_variant
rs1000181719 -- 136,829,839(+) C/T intron_variant
rs1000211335 -- 136,829,712(+) A/G intron_variant
rs1000274682 -- 136,807,463(+) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RABL6 Gene

Variant ID Type Subtype PubMed ID
nsv951205 CNV deletion 24416366
nsv825180 CNV gain 20364138
nsv818738 CNV gain 17921354
nsv615985 CNV loss 21841781
nsv524322 CNV loss 19592680
nsv469918 CNV loss 18288195
nsv416072 CNV deletion 16902084
nsv1143242 CNV tandem duplication 24896259
nsv1119616 CNV deletion 24896259
esv3622016 CNV loss 21293372
esv29973 CNV loss 17803354
esv2759720 CNV loss 17122850
esv2739396 CNV deletion 23290073
esv2422220 CNV deletion 17116639
dgv1246n67 CNV gain 20364138

Variation tolerance for RABL6 Gene

Residual Variation Intolerance Score: 93.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.78; 47.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RABL6 Gene

Human Gene Mutation Database (HGMD)
RABL6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RABL6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RABL6 Gene

Disorders for RABL6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RABL6 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
pancreatic neuroendocrine tumor
  • islet cell tumor
- elite association - COSMIC cancer census association via MalaCards
Search RABL6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RABL6

genes like me logo Genes that share disorders with RABL6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RABL6 Gene

Publications for RABL6 Gene

  1. Identification and characterization of RBEL1 subfamily of GTPases in the Ras superfamily involved in cell growth regulation. (PMID: 19433581) Montalbano J … Huang Y (The Journal of biological chemistry 2009) 2 3 4 58
  2. RBEL1 is a novel gene that encodes a nucleocytoplasmic Ras superfamily GTP-binding protein and is overexpressed in breast cancer. (PMID: 17962191) Montalbano J … Huang Y (The Journal of biological chemistry 2007) 2 3 4 58
  3. Identification of novel ARF binding proteins by two-hybrid screening. (PMID: 16582619) Tompkins V … Quelle DE (Cell cycle (Georgetown, Tex.) 2006) 2 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for RABL6 Gene

Sources for RABL6 Gene

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