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RASL11B (RAS-like, family 11, member B)

Written2009-05Stefan Lorkowski
Institute of Nutrition, Friedrich Schiller University Jena, Dornburger Str. 25, 07743 Jena, Germany

(Note : for Links provided by Atlas : click)

Identity

Alias_namesRAS-like, family 11, member B
RAS-like family 11 member B
Other aliasMGC2827
MGC4499
HGNC (Hugo) RASL11B
LocusID (NCBI) 65997
Atlas_Id 44265
Location 4q12  [Link to chromosome band 4q12]
Location_base_pair Starts at 52862328 and ends at 52866835 bp from pter ( according to hg19-Feb_2009)  [Mapping RASL11B.png]
Local_order Chr4:53,423,252-53,427,759 on the + strand.
Fusion genes
(updated 2016)
PRKG1 (10q11.23) / RASL11B (4q12)RASL11B (4q12) / CSRNP3 (2q24.3)
Note Mouse: chr5:74,591,351-74,595,502 (according to Mouse July 2007 Assembly)
Rat: chr14:36,392,946-36,397,168 (according to Rat November 2004 Assembly)
Zebrafish: chr20:59,670,592-59,673,835 (according to Zebrafish March 2006 Assembly)

DNA/RNA

 
  Schematic representation of human RASL11B mRNAs and genomic organization of the human RASL11B gene. The human RASL11B gene consists of 4 exons encoding a transcript with a total length of 1962 bp. One shorter variant with a length of 766 bp was found. The ATG start and TGA stop codons are located in exons 1 and 4, respectively.
Description Gene: 4508 bp
Chromosome: 4q12
mRNA: 1979 bp
Exon 1: 1-333
Exon 2: 334-390
Exon 3: 391-467
Exon 4: 468-1962
CDS: 192-936

The human RASL11B gene spans about 4508 bp on chromosome 4q12 and comprises 4 exons encoding at least 2 different transcripts. Exons of the RASL11B gene are 333 bp (exon 1), 57 bp (exon 2), 77 bp (exon 3), and 1495 bp (exon 4) in size. Sizes of introns are 618 bp (intron 1), 1153 bp (intron 2), and 780 bp (exon 3). All splice sites have canonical boundaries, starting the intron with 'gt' and ending with 'ag'. A polyadenylation signal in the untranslated region of exon 4 is located at nucleotide position 1947.

Transcription In addition to the full-length RASL11B transcript, a truncated polyadenylated transcript of 766 bp was reported.
Full-length transcript: 1962 bp mRNA, 744 bp open reading frame.
Truncated transcript: 766 bp mRNA, 574 bp open reading frame.
Pseudogene No pseudogenes reported.

Protein

 
  Domains within the human RASL11B protein. Domains positions are indicated with vertical purple lines and intron positions are indicated with vertical red lines both showing the exact position in the polypeptide sequence.
Description RASL11B is a 248 amino acid protein containing a characteristic RAS GTPase domain with typical topology of a six-stranded beta-sheet surrounded by five alpha-helices. The RASL11B protein has no typical prenylation signal, indicating that it is probably not anchored to cellular membranes.
Expression Expression of human RASL11B mRNA was investigated in 37 tissues and 5 cell types. In tissues, RASL11B transcript is widely expressed with highest levels in placenta. In cells RASL11B transcript shows highest abundance in primary macrophages.
Localisation Cytosolic.
Function Small GTPase belonging to a Ras subfamily of putative tumor suppressor genes.
Homology The protein sequence of the RASL11 protein family is highly conserved within different species and contains five conserved regions motives that comprise the G-domain of small GTPases (P-loop, switch 1 and 2, G4 and G5 box).

Implicated in

Note
Note According to Stolle et al., RASL11B expression is induced during maturation of THP-1 monocytic cells into macrophages and in coronary artery smooth muscle cells after treatment with TGF-beta1 suggesting that RASL11B may play a role in developmental processes or in pathophysiologies such as inflammation or cancer.
Pezeron et al. demonstrated that Rasl11b modulates function of the EGF-CFC coreceptor one-eyed-pinhead (oep) in zebrafish independently of the TGFbeta/Nodal pathway, which is crucial for germ layer formation. Down regulation of Rasl11b partially rescued endodermal and prechordal plate defects of zygotic homozygous oep zebrafish mutants. Rasl11b inhibitory action was observed only in animals with oep-deficient backgrounds, suggesting that normal oep expression prevents function of Rasl11b. On the other hand, Rasl11b down regulation did not rescue mesendodermal defects in other Nodal pathway mutants.
  

Bibliography

Rasl11b knock down in zebrafish suppresses one-eyed-pinhead mutant phenotype.
Pezeron G, Lambert G, Dickmeis T, Strahle U, Rosa FM, Mourrain P.
PLoS One. 2008 Jan 16;3(1):e1434.
PMID 18197245
 
Cloning, genomic organization, and tissue-specific expression of the RASL11B gene.
Stolle K, Schnoor M, Fuellen G, Spitzer M, Cullen P, Lorkowski S.
Biochim Biophys Acta. 2007 Jul-Aug;1769(7-8):514-24. Epub 2007 Jun 6.
PMID 17628721
 

Citation

This paper should be referenced as such :
Lorkowski, S
RASL11B (RAS-like, family 11, member B)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(4):421-422.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/RASL11BID44265ch4q12.html


External links

Nomenclature
HGNC (Hugo)RASL11B   23804
Cards
AtlasRASL11BID44265ch4q12
Entrez_Gene (NCBI)RASL11B  65997  RAS like family 11 member B
Aliases
GeneCards (Weizmann)RASL11B
Ensembl hg19 (Hinxton)ENSG00000128045 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128045 [Gene_View]  chr4:52862328-52866835 [Contig_View]  RASL11B [Vega]
ICGC DataPortalENSG00000128045
TCGA cBioPortalRASL11B
AceView (NCBI)RASL11B
Genatlas (Paris)RASL11B
WikiGenes65997
SOURCE (Princeton)RASL11B
Genetics Home Reference (NIH)RASL11B
Genomic and cartography
GoldenPath hg38 (UCSC)RASL11B  -     chr4:52862328-52866835 +  4q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RASL11B  -     4q12   [Description]    (hg19-Feb_2009)
EnsemblRASL11B - 4q12 [CytoView hg19]  RASL11B - 4q12 [CytoView hg38]
Mapping of homologs : NCBIRASL11B [Mapview hg19]  RASL11B [Mapview hg38]
OMIM612404   
Gene and transcription
Genbank (Entrez)AK027267 AK314942 AY839725 AY839726 BC001087
RefSeq transcript (Entrez)NM_023940
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RASL11B
Cluster EST : UnigeneHs.8035 [ NCBI ]
CGAP (NCI)Hs.8035
Alternative Splicing GalleryENSG00000128045
Gene ExpressionRASL11B [ NCBI-GEO ]   RASL11B [ EBI - ARRAY_EXPRESS ]   RASL11B [ SEEK ]   RASL11B [ MEM ]
Gene Expression Viewer (FireBrowse)RASL11B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)65997
GTEX Portal (Tissue expression)RASL11B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BPW5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BPW5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BPW5
Splice isoforms : SwissVarQ9BPW5
PhosPhoSitePlusQ9BPW5
Domaine pattern : Prosite (Expaxy)RAS (PS51421)   
Domains : Interpro (EBI)P-loop_NTPase    Small_GTP-bd_dom    Small_GTPase    Small_GTPase_Ras   
Domain families : Pfam (Sanger)Ras (PF00071)   
Domain families : Pfam (NCBI)pfam00071   
Conserved Domain (NCBI)RASL11B
DMDM Disease mutations65997
Blocks (Seattle)RASL11B
SuperfamilyQ9BPW5
Human Protein AtlasENSG00000128045
Peptide AtlasQ9BPW5
HPRD15216
IPIIPI00386910   
Protein Interaction databases
DIP (DOE-UCLA)Q9BPW5
IntAct (EBI)Q9BPW5
FunCoupENSG00000128045
BioGRIDRASL11B
STRING (EMBL)RASL11B
ZODIACRASL11B
Ontologies - Pathways
QuickGOQ9BPW5
Ontology : AmiGOGTPase activity  transforming growth factor beta receptor binding  GTP binding  signal transduction  membrane  negative regulation of transforming growth factor beta receptor signaling pathway  
Ontology : EGO-EBIGTPase activity  transforming growth factor beta receptor binding  GTP binding  signal transduction  membrane  negative regulation of transforming growth factor beta receptor signaling pathway  
NDEx NetworkRASL11B
Atlas of Cancer Signalling NetworkRASL11B
Wikipedia pathwaysRASL11B
Orthology - Evolution
OrthoDB65997
GeneTree (enSembl)ENSG00000128045
Phylogenetic Trees/Animal Genes : TreeFamRASL11B
HOVERGENQ9BPW5
HOGENOMQ9BPW5
Homologs : HomoloGeneRASL11B
Homology/Alignments : Family Browser (UCSC)RASL11B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRASL11B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RASL11B
dbVarRASL11B
ClinVarRASL11B
1000_GenomesRASL11B 
Exome Variant ServerRASL11B
ExAC (Exome Aggregation Consortium)RASL11B (select the gene name)
Genetic variants : HAPMAP65997
Genomic Variants (DGV)RASL11B [DGVbeta]
DECIPHERRASL11B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRASL11B 
Mutations
ICGC Data PortalRASL11B 
TCGA Data PortalRASL11B 
Broad Tumor PortalRASL11B
OASIS PortalRASL11B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRASL11B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRASL11B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RASL11B
DgiDB (Drug Gene Interaction Database)RASL11B
DoCM (Curated mutations)RASL11B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RASL11B (select a term)
intoGenRASL11B
NCG5 (London)RASL11B
Cancer3DRASL11B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612404   
Orphanet
MedgenRASL11B
Genetic Testing Registry RASL11B
NextProtQ9BPW5 [Medical]
TSGene65997
GENETestsRASL11B
Target ValidationRASL11B
Huge Navigator RASL11B [HugePedia]
snp3D : Map Gene to Disease65997
BioCentury BCIQRASL11B
ClinGenRASL11B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD65997
Chemical/Pharm GKB GenePA134872992
Clinical trialRASL11B
Miscellaneous
canSAR (ICR)RASL11B (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRASL11B
EVEXRASL11B
GoPubMedRASL11B
iHOPRASL11B
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 30 11:16:37 CEST 2017

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