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RAP1B (RAP1B, member of RAS oncogene family)

Written2001-05Jean de Gunzburg
Laboratoire de Signalisation Intracellulaire et Oncogenöse INSERM U-528 Institut Curie Section de Recherche 26, rue d'Ulm, 75248 Paris Cedex 05, France

(Note : for Links provided by Atlas : click)

Identity

HGNC (Hugo) RAP1B
HGNC Alias symbK-REV
RAL1B
DKFZp586H0723
LocusID (NCBI) 5908
Atlas_Id 273
Location 12q15  [Link to chromosome band 12q15]
Location_base_pair Starts at 68610899 and ends at 68671901 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping RAP1B.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
LSM14B (20q13.33) / RAP1B (12q15)NUP107 (12q15) / RAP1B (12q15)PPM1H (12q14.1) / RAP1B (12q15)
RAP1B (12q15) / CPM (12q15)RAP1B (12q15) / CTDSP2 (12q14.1)RAP1B (12q15) / GLIPR1L1 (12q21.2)
RAP1B (12q15) / HUWE1 (Xp11.22)RAP1B (12q15) / TUBGCP3 (13q34)TLCD2 (17p13.3) / RAP1B (12q15)

DNA/RNA

 
Description The gene emcompasses 7 codinng exons covering 10779 bp on chromosome 12

Protein

Description Rap1 is a member of the Ras superfamily of monomeric GTPases, closely related to Ras. There are two isoforms, Rap1Aand Rap1B that share 95% identity and are encoded by two different genes. Rap1 proteins share 50% identity with Ras proteins, including the regions involved in GDP/GTP binding (hence Rap1A has very similar biochemical properties to Ras), C-terminal CAAX domain leading to prenylation (geranylgeranylation in the case of Rap1A), and effector region identical to that of Ras proteins causing Ras and Rap1 to share some potential effectors.
Expression ubiquitous ; highest in platelets and neutrophils
Localisation Rap1 is bound to membranes. In many cell types, it is found in a perinuclear compartment overlapping the Golgi. Rap1 proteins (A and B) are phosphorylated near the C-ter by cAMP-dependent protein kinase. This results in translocation of part of the Rap1 pool to the cytosol.
Function The function of Rap1 is still a matter of debate. Its overexpression is able to compete with the activation of Raf-1 by active Ras. Active Rap1B has been shown to activate the B-Raf kinase and the MEK-ERK cascade. In several cellular models, Rap1 has been shown to be involved in the regulation of integrin-mediated cell adhesion.
Homology 98% identical to Rap1A, 60% identical to Rap2 , 50 % to Ras proteins

Mutations

Germinal unknown

Implicated in

Note
  
Entity no implication in pathologies characterized so far
  

To be noted

see also RAP family

Bibliography

Rap1 signalling: adhering to new models.
Bos JL, de Rooij J, Reedquist KA
Nature reviews. Molecular cell biology. 2001 ; 2 (5) : 369-377.
PMID 11331911
 

Citation

This paper should be referenced as such :
Gunzburg, J de
RAP1B (RAP1B, member of RAS oncogene family)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):174-175.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(4;11)(q21;p15) NUP98/RAP1GDS1
t(4;11)(q23;p15) NUP98/RAP1GDS1


External links

Nomenclature
HGNC (Hugo)RAP1B   9857
Cards
AtlasRAP1BID273
Entrez_Gene (NCBI)RAP1B    RAP1B, member of RAS oncogene family
AliasesK-REV; RAL1B
GeneCards (Weizmann)RAP1B
Ensembl hg19 (Hinxton)ENSG00000127314 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127314 [Gene_View]  ENSG00000127314 [Sequence]  chr12:68610899-68671901 [Contig_View]  RAP1B [Vega]
ICGC DataPortalENSG00000127314
TCGA cBioPortalRAP1B
AceView (NCBI)RAP1B
Genatlas (Paris)RAP1B
SOURCE (Princeton)RAP1B
Genetics Home Reference (NIH)RAP1B
Genomic and cartography
GoldenPath hg38 (UCSC)RAP1B  -     chr12:68610899-68671901 +  12q15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RAP1B  -     12q15   [Description]    (hg19-Feb_2009)
GoldenPathRAP1B - 12q15 [CytoView hg19]  RAP1B - 12q15 [CytoView hg38]
ImmunoBaseENSG00000127314
genome Data Viewer NCBIRAP1B [Mapview hg19]  
OMIM179530   
Gene and transcription
Genbank (Entrez)AA809981 AB062128 AF279894 AF493913 AJ420497
RefSeq transcript (Entrez)NM_001010942 NM_001251917 NM_001251918 NM_001251921 NM_001251922 NM_015646
Consensus coding sequences : CCDS (NCBI)RAP1B
Alternative Splicing GalleryENSG00000127314
Gene ExpressionRAP1B [ NCBI-GEO ]   RAP1B [ EBI - ARRAY_EXPRESS ]   RAP1B [ SEEK ]   RAP1B [ MEM ]
Gene Expression Viewer (FireBrowse)RAP1B [ Firebrowse - Broad ]
GenevisibleExpression of RAP1B in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5908
GTEX Portal (Tissue expression)RAP1B
Human Protein AtlasENSG00000127314-RAP1B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)RAP1B
Human Protein Atlas [tissue]ENSG00000127314-RAP1B [tissue]
HPRD01546
Protein Interaction databases
BioGRIDRAP1B
STRING (EMBL)RAP1B
ZODIACRAP1B
Ontologies - Pathways
Litterature
PubMed117 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRAP1B
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Sep 15 23:53:55 CEST 2021

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