RAP1GDS1 (RAP1, GTP-GDP dissociation stimulator 1)

2003-10-01   Franck Viguié  

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.

Article Bibliography

Pubmed IDLast YearTitleAuthors

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138698ENST00000264572P52306
ENSG00000138698ENST00000339360P52306
ENSG00000138698ENST00000380158P52306
ENSG00000138698ENST00000408900P52306
ENSG00000138698ENST00000408927P52306
ENSG00000138698ENST00000453712P52306
ENSG00000138698ENST00000503667D6RC85
ENSG00000138698ENST00000508213D6RHH8
ENSG00000138698ENST00000508490D6RC12
ENSG00000138698ENST00000509011D6RHZ7
ENSG00000138698ENST00000509501H0Y8M2
ENSG00000138698ENST00000510870D6RBC6
ENSG00000138698ENST00000511212D6REZ0
ENSG00000138698ENST00000514122D6RB97
ENSG00000138698ENST00000514139U3KQJ4

Expression (GTEx)

0
10
20
30
40
50
60
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
335741302021Silencing of SmgGDS, a Novel mTORC1 Inducer That Binds to RHEBs, Inhibits Malignant Mesothelioma Cell Proliferation.3
335741302021Silencing of SmgGDS, a Novel mTORC1 Inducer That Binds to RHEBs, Inhibits Malignant Mesothelioma Cell Proliferation.3
320198782020Splice switching an oncogenic ratio of SmgGDS isoforms as a strategy to diminish malignancy.10
324310712020Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.12
320198782020Splice switching an oncogenic ratio of SmgGDS isoforms as a strategy to diminish malignancy.10
324310712020Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.12
311970342019The chaperone SmgGDS-607 has a dual role, both activating and inhibiting farnesylation of small GTPases.9
311970342019The chaperone SmgGDS-607 has a dual role, both activating and inhibiting farnesylation of small GTPases.9
299401002018SmgGDS-607 Regulation of RhoA GTPase Prenylation Is Nucleotide-Dependent.6
301904252018GEF mechanism revealed by the structure of SmgGDS-558 and farnesylated RhoA complex and its implication for a chaperone mechanism.14
299401002018SmgGDS-607 Regulation of RhoA GTPase Prenylation Is Nucleotide-Dependent.6
301904252018GEF mechanism revealed by the structure of SmgGDS-558 and farnesylated RhoA complex and its implication for a chaperone mechanism.14
286300452017Structure-based analysis of the guanine nucleotide exchange factor SmgGDS reveals armadillo-repeat motifs and key regions for activity and GTPase binding.12
288063942017SmgGDS is a transient nucleolar protein that protects cells from nucleolar stress and promotes the cell cycle by regulating DREAM complex gene expression.10
286300452017Structure-based analysis of the guanine nucleotide exchange factor SmgGDS reveals armadillo-repeat motifs and key regions for activity and GTPase binding.12

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/favicon/haematological-explorer/js/lib/popper.js