Download Gene Section RAP1GDS1 (RAP1, GTP-GDP dissociation stimulator 1) Atlas of Genetics and Cytogenetics

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Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Gene Section
Short Communication
RAP1GDS1 (RAP1, GTP-GDP dissociation
stimulator 1)
Franck Viguié
Laboratoire de Cytogénétique - Service d'Hématologie Biologique, Hôpital Hôtel-Dieu, 75181 Paris Cedex
04, France (FV)
Published in Atlas Database: October 2003
Online updated version : http://AtlasGeneticsOncology.org/Genes/RAP1GDS1ID400.html
DOI: 10.4267/2042/38038
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2004 Atlas of Genetics and Cytogenetics in Oncology and Haematology
proliferation,
transformation.
Identity
Other names: RAP1; GTP-GDP
stimulator 1
HGNC (Hugo): RAP1GDS1
Location: 4q22.3
dissociation
and
oncogenic
Homology
With other mammalian rap1gds1 proteins.
Implicated in
DNA/RNA
t(4;11)(q21;p15)
Disease
T cell acute lymphocytic leukemia
Cytogenetics
Additional anomalies in 2/3 cases.
Hybrid/Mutated gene
Quasi totality of RAP1GDS1 fused with 5' part of
NUP98.
Abnormal protein
Chimeric protein 5' -NUP98 - RAP1GDS1 - 3'.
Description
181.2 kb - 15 exons.
Transcription
mRNA 2487 bases.
Protein
Description
rap1gds, also refered as smgGDS - 61.1 kDa, 558 aa.
Contains in major part an armadillo motif, which is
composed of tandemly repeated sequences of 43 amino
acid residues.
References
de Mazancourt P, Goldsmith PK, Weinstein LS. Inhibition of
adenylate cyclase activity by galanin in rat insulinoma cells is
mediated by the G-protein Gi3. Biochem J. 1994 Oct 15;303 (
Pt 2):369-75
Expression
Ubiquitary, high level of expression in central nervous
system.
Hussey DJ, Nicola M, Moore S, Peters GB, Dobrovic A. The
(4;11)(q21;p15) translocation fuses the NUP98 and
RAP1GDS1 genes and is recurrent in T-cell acute lymphocytic
leukemia. Blood. 1999 Sep 15;94(6):2072-9
Function
Acts as guanine nucleotide exchange factor (GEF).
Activates GDP/GTP exchange reaction on numerous
small proteins with GTPase activity (G proteins)
containing a C-terminal polybasic region (PBR),
including Ras and Rho family GTPases such as rap1a,
rap1b, K-ras, rac1, rac2, rhoA, ralB. These proteins
play a pivotal role in cell
Atlas Genet Cytogenet Oncol Haematol. 2004; 8(1)
differentiation
Mecucci C, La Starza R, Negrini M, Sabbioni S, Crescenzi B,
Leoni P, Di Raimondo F, Krampera M, Cimino G, Tafuri A,
Cuneo A, Vitale A, Foà R. t(4;11)(q21;p15) translocation
involving NUP98 and RAP1GDS1 genes: characterization of a
new subset of T acute lymphoblastic leukaemia. Br J
Haematol. 2000 Jun;109(4):788-93
5
RAP1GDS1 (RAP1, GTP-GDP dissociation stimulator 1)
Viguié F
Vikis HG, Stewart S, Guan KL. SmgGDS displays differential
binding and exchange activity towards different Ras isoforms.
Oncogene. 2002 Apr 4;21(15):2425-32
Atlas Genet Cytogenet Oncol Haematol. 2004; 8(1)
This article should be referenced as such:
Viguié F. RAP1GDS1 (RAP1, GTP-GDP dissociation
stimulator 1). Atlas Genet Cytogenet Oncol Haematol. 2004;
8(1):5-6.
6
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Bibliography
Bibliography
Cancer Prone Disease Section Alagille syndrome (AGS) Atlas of Genetics and Cytogenetics
Cancer Prone Disease Section Alagille syndrome (AGS) Atlas of Genetics and Cytogenetics
curriculum vitae del prof. alfredo ciccodicola
curriculum vitae del prof. alfredo ciccodicola