| Written | 2001-05 | Jean 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 |
| Identity |
| HGNC (Hugo) | RAP1B |
| HGNC Alias symb | K-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 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Jan 20 14:15:58 CET 2022 |
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