| 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) | RAP1A |
| HGNC Alias symb | KREV-1 | SMGP21 |
| LocusID (NCBI) | 5906 |
| Atlas_Id | 272 |
| Location | 1p13.2 [Link to chromosome band 1p13] |
| Location_base_pair | Starts at 111619783 and ends at 111716695 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping RAP1A.png] |
 | |
| Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics | |
| Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
| MAGI3 (1p13.2) / RAP1A (1p13.2) | PCDH7 (4p15.1) / RAP1A (1p13.2) | RAP1A (1p13.2) / CD2 (1p13.1) | |
| RAP1A (1p13.2) / EIF4A3 (17q25.3) | RAP1A (1p13.2) / EIF4G1 (3q27.1) | RAP1A (1p13.2) / RAP1A (1p13.2) | |
| RAP1A (1p13.2) / SEL1L (14q31.1) | TRAM1 (8q13.3) / RAP1A (1p13.2) |
| DNA/RNA |
 | |
| Description | 6 coding exons covering 18095 bp on chromosome 1 |
| Protein |
| Description | Rap1 is a member of the Ras superfamily of monomeric GTPases, closely related to Ras. There are two isoforms, Rap1A and 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 ; higher in brain and hemopoïetic tissues |
| 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 | 95% to Rap1B, 60% identical to Rap2, 50 % to Ras proteins |
| Mutations |
| Germinal | unknown |
| Implicated in |
| Note | |
| Entity | no implication in pathologies characterized so far |
| 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 |
| RAP1A (RAP1A, member of RAS oncogene family) |
| Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):172-173. |
| 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 |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ] |
|
MAGI3/RAP1A (1p13)
RAP1A/CD2 (1p13) |
| 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 : Fri Feb 19 17:58:51 CET 2021 |
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