RAP1GDS1 (RAP1, GTP-GDP dissociation stimulator 1)

2003-10-01 Franck Viguié Affiliation

Laboratoire de Cytogenetique - Service dHematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

Identity

HGNC

RAP1GDS1

LOCATION

4q23

LOCUSID

5910

ALIAS

GDS1,SmgGDS

FUSION GENES

Show Gene Fusions

DNA/RNA

Description

181.2 kb - 15 exons

Transcription

mRNA 2487 bases

Proteins

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.

Expression

Ubiquitary, high level of expression in central nervous system.

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 proliferation, differentiation and oncogenic transformation.

Homology

With other mammalian rap1gds1 proteins.

Implicated in

Entity name

t(4;11)(q21;p15).

Disease

T cell acute lymphocytic leukemia.

Cytogenetics

Additional anomalies in 2/3 cases.

Hybrid gene

Quasi totality of RAP1GDS1 fused with 5 part of NUP98.

Fusion protein

Chimeric protein 5 -NUP98 - RAP1GDS1 - 3.

Bibliography

Pubmed ID	Last Year	Title	Authors
10477737	1999	The (4;11)(q21;p15) translocation fuses the NUP98 and RAP1GDS1 genes and is recurrent in T-cell acute lymphocytic leukemia.	Hussey DJ et al
10929031	2000	t(4;11)(q21;p15) translocation involving NUP98 and RAP1GDS1 genes: characterization of a new subset of T acute lymphoblastic leukaemia.	Mecucci C et al
11948427	2002	SmgGDS displays differential binding and exchange activity towards different Ras isoforms.	Vikis HG et al
7526840	1994	Inhibition of adenylate cyclase activity by galanin in rat insulinoma cells is mediated by the G-protein Gi3.	de Mazancourt P et al

Other Information

Locus ID:

NCBI: 5910
MIM: 179502
HGNC: 9859
Ensembl: ENSG00000138698

Variants:

dbSNP: 5910
ClinVar: 5910
TCGA: ENSG00000138698
COSMIC: RAP1GDS1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000138698	ENST00000264572	P52306
ENSG00000138698	ENST00000339360	P52306
ENSG00000138698	ENST00000380158	P52306
ENSG00000138698	ENST00000408900	P52306
ENSG00000138698	ENST00000408927	P52306
ENSG00000138698	ENST00000453712	P52306
ENSG00000138698	ENST00000503667	D6RC85
ENSG00000138698	ENST00000508213	D6RHH8
ENSG00000138698	ENST00000508490	D6RC12
ENSG00000138698	ENST00000509011	D6RHZ7
ENSG00000138698	ENST00000509501	H0Y8M2
ENSG00000138698	ENST00000510870	D6RBC6
ENSG00000138698	ENST00000511212	D6REZ0
ENSG00000138698	ENST00000514122	D6RB97
ENSG00000138698	ENST00000514139	U3KQJ4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
21429211	2011	Breast cancer cell migration is regulated through junctional adhesion molecule-A-mediated activation of Rap1 GTPase.	42
20709748	2010	Splice variants of SmgGDS control small GTPase prenylation and membrane localization.	40
19546222	2009	Epac activates the small G proteins Rap1 and Rab3A to achieve exocytosis.	38
21242305	2011	SmgGDS is a guanine nucleotide exchange factor that specifically activates RhoA and RhoC.	32
19260141	2009	Genome-wide association study of biochemical traits in Korcula Island, Croatia.	30
17951244	2008	SmgGDS regulates cell proliferation, migration, and NF-kappaB transcriptional activity in non-small cell lung carcinoma.	26
14615375	2004	Among circulating hematopoietic cells, B-CLL uniquely expresses functional EPAC1, but EPAC1-mediated Rap1 activation does not account for PDE4 inhibitor-induced apoptosis.	23
23640485	2013	Statins exert the pleiotropic effects through small GTP-binding protein dissociation stimulator upregulation with a resultant Rac1 degradation.	20
20190816	2010	Anaplastic lymphoma kinase activates the small GTPase Rap1 via the Rap1-specific GEF C3G in both neuroblastoma and PC12 cells.	17
24415755	2014	The chaperone protein SmgGDS interacts with small GTPases entering the prenylation pathway by recognizing the last amino acid in the CAAX motif.	16

Citation

Franck Viguié

RAP1GDS1 (RAP1, GTP-GDP dissociation stimulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/gene/400/rap1gds1id400