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Aliases for RAP1GDS1 Gene

Aliases for RAP1GDS1 Gene

  • Rap1 GTPase-GDP Dissociation Stimulator 1 2 3 5
  • SMG P21 Stimulatory GDP/GTP Exchange Protein 3 4
  • RAP1, GTP-GDP Dissociation Stimulator 1 2 3
  • Exchange Factor SmgGDS 3 4
  • SMG GDS Protein 3 4
  • SmgGDS 3
  • GDS1 3

External Ids for RAP1GDS1 Gene

Previous GeneCards Identifiers for RAP1GDS1 Gene

  • GC04P099428
  • GC04P099575
  • GC04P099641
  • GC04P099539
  • GC04P099182
  • GC04P094951

Summaries for RAP1GDS1 Gene

Entrez Gene Summary for RAP1GDS1 Gene

  • The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010]

GeneCards Summary for RAP1GDS1 Gene

RAP1GDS1 (Rap1 GTPase-GDP Dissociation Stimulator 1) is a Protein Coding gene. Diseases associated with RAP1GDS1 include Acute Lymphocytic Leukemia. Among its related pathways are G-protein signaling_Regulation of RAC1 activity and G-protein signaling_Rap1A regulation pathway. GO annotations related to this gene include binding and proton-transporting ATPase activity, rotational mechanism.

UniProtKB/Swiss-Prot for RAP1GDS1 Gene

  • Stimulates GDP/GTP exchange reaction of a group of small GTP-binding proteins (G proteins) including Rap1a/Rap1b, RhoA, RhoB and KRas, by stimulating the dissociation of GDP from and the subsequent binding of GTP to each small G protein.

Gene Wiki entry for RAP1GDS1 Gene

Additional gene information for RAP1GDS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAP1GDS1 Gene

Genomics for RAP1GDS1 Gene

Regulatory Elements for RAP1GDS1 Gene

Enhancers for RAP1GDS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H098203 1.3 FANTOM5 Ensembl ENCODE 16.4 -57.5 -57545 1 TBP PKNOX1 TBL1XR1 SMAD5 DPF2 BCL11A POLR2A CUX1 RUNX3 SPI1 RAP1GDS1 ENSG00000214559 LOC105377340
GH04H098467 1.4 Ensembl ENCODE dbSUPER 14.2 +207.1 207139 2 TBL1XR1 ZSCAN9 RAD21 ZNF766 EGR1 ZNF143 RCOR1 RUNX3 CREM MIXL1 RAP1GDS1 ENSG00000251523 TSPAN5 ENSG00000214559 GC04P098410
GH04H098445 1 Ensembl ENCODE 15.1 +185.7 185658 2 PKNOX1 RB1 BACH1 BMI1 BATF YY1 FOSL1 EGR1 EED ATF7 RAP1GDS1 ENSG00000214559 ENSG00000251523 GC04P098410
GH04H098641 1.4 Ensembl ENCODE dbSUPER 9.4 +381.7 381692 2 ELF3 FOXA2 FEZF1 SCRT2 FOS ATF7 ZNF362 CEBPB NFIL3 ATF4 LOC105377342 ENSG00000214559 RAP1GDS1 TSPAN5 GC04P098586
GH04H098652 1.4 VISTA ENCODE dbSUPER 9.1 +395.2 395161 8 FOXA2 FEZF1 BMI1 RAD21 GLIS2 ZNF366 FOS IKZF2 EGR2 SP3 LOC105377342 ENSG00000251523 ENSG00000214559 RAP1GDS1 ENSG00000272777 TSPAN5 GC04P098586
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAP1GDS1 on UCSC Golden Path with GeneCards custom track

Promoters for RAP1GDS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000170956 24 2801 PKNOX1 ATF1 SIN3A DMAP1 GLI4 YY1 GLIS2 KLF7 ATF7 RUNX3

Genomic Location for RAP1GDS1 Gene

Chromosome:
4
Start:
98,261,376 bp from pter
End:
98,443,861 bp from pter
Size:
182,486 bases
Orientation:
Plus strand

Genomic View for RAP1GDS1 Gene

Genes around RAP1GDS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAP1GDS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAP1GDS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAP1GDS1 Gene

Proteins for RAP1GDS1 Gene

  • Protein details for RAP1GDS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52306-GDS1_HUMAN
    Recommended name:
    Rap1 GTPase-GDP dissociation stimulator 1
    Protein Accession:
    P52306
    Secondary Accessions:
    • E9PH06
    • G5E9P9
    • Q499L7
    • Q4KMV2
    • Q4QQI8
    • Q9BUW9
    • Q9BUX6
    • Q9NYM2
    • Q9NZA8

    Protein attributes for RAP1GDS1 Gene

    Size:
    607 amino acids
    Molecular mass:
    66317 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RAP1GDS1 Gene

neXtProt entry for RAP1GDS1 Gene

Post-translational modifications for RAP1GDS1 Gene

  • Ubiquitination at Lys77, Lys101, Lys421, isoforms=2, 3, 4, 5, 6445, and Lys457
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for RAP1GDS1 Gene

Domains & Families for RAP1GDS1 Gene

Gene Families for RAP1GDS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for RAP1GDS1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RAP1GDS1: view

No data available for UniProtKB/Swiss-Prot for RAP1GDS1 Gene

Function for RAP1GDS1 Gene

Molecular function for RAP1GDS1 Gene

GENATLAS Biochemistry:
guanine dinucleotide phosphate stimulating factor of Ras related Rho,Rac proteins,fused with NUP98 in T cell acute lymphocytic leukemia with translocation t(4;11)(q21;q25),in a chimeric protein 5 - NUP78 - RAP1GD1 - 3
UniProtKB/Swiss-Prot Function:
Stimulates GDP/GTP exchange reaction of a group of small GTP-binding proteins (G proteins) including Rap1a/Rap1b, RhoA, RhoB and KRas, by stimulating the dissociation of GDP from and the subsequent binding of GTP to each small G protein.

Phenotypes From GWAS Catalog for RAP1GDS1 Gene

Gene Ontology (GO) - Molecular Function for RAP1GDS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity NAS 1549351
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RAP1GDS1: view
genes like me logo Genes that share phenotypes with RAP1GDS1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RAP1GDS1

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for RAP1GDS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAP1GDS1 Gene

Localization for RAP1GDS1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAP1GDS1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
endoplasmic reticulum 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAP1GDS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 24349085
GO:0005783 endoplasmic reticulum IDA 24349085
GO:0005829 cytosol IDA 24349085
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with RAP1GDS1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RAP1GDS1 Gene

Pathways & Interactions for RAP1GDS1 Gene

genes like me logo Genes that share pathways with RAP1GDS1: view

SIGNOR curated interactions for RAP1GDS1 Gene

Activates:

Gene Ontology (GO) - Biological Process for RAP1GDS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IBA --
GO:0014829 vascular smooth muscle contraction IEA --
GO:0031034 myosin filament assembly IEA --
GO:0032471 negative regulation of endoplasmic reticulum calcium ion concentration IMP 24349085
GO:0043547 positive regulation of GTPase activity IEA,IBA --
genes like me logo Genes that share ontologies with RAP1GDS1: view

Drugs & Compounds for RAP1GDS1 Gene

(1) Drugs for RAP1GDS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RAP1GDS1: view

Transcripts for RAP1GDS1 Gene

Unigene Clusters for RAP1GDS1 Gene

RAP1, GTP-GDP dissociation stimulator 1:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for RAP1GDS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RAP1GDS1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c
SP1:
SP2:
SP3:
SP4: -
SP5: -

Relevant External Links for RAP1GDS1 Gene

GeneLoc Exon Structure for
RAP1GDS1
ECgene alternative splicing isoforms for
RAP1GDS1

Expression for RAP1GDS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAP1GDS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAP1GDS1 Gene

This gene is overexpressed in Bone (12.7), Brain (7.9), and Spinal cord (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAP1GDS1 Gene



Protein tissue co-expression partners for RAP1GDS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAP1GDS1 Gene:

RAP1GDS1

SOURCE GeneReport for Unigene cluster for RAP1GDS1 Gene:

Hs.132858

Evidence on tissue expression from TISSUES for RAP1GDS1 Gene

  • Nervous system(4.9)
  • Blood(4.3)
  • Muscle(4.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with RAP1GDS1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAP1GDS1 Gene

Orthologs for RAP1GDS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAP1GDS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAP1GDS1 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia RAP1GDS1 33 34
  • 95.67 (n)
cow
(Bos Taurus)
Mammalia RAP1GDS1 33 34
  • 93.84 (n)
oppossum
(Monodelphis domestica)
Mammalia RAP1GDS1 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rap1gds1 33 16 34
  • 89.2 (n)
rat
(Rattus norvegicus)
Mammalia Rap1gds1 33
  • 89.12 (n)
chicken
(Gallus gallus)
Aves RAP1GDS1 34 33
  • 84.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAP1GDS1 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486041 33
  • 78.27 (n)
Str.784 33
African clawed frog
(Xenopus laevis)
Amphibia rap1gds1-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii RAP1GDS1 34
  • 80 (a)
OneToOne
rap1gds1 33
  • 72.22 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005262 33
  • 44.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta vimar 35 33 34
  • 43.1 (n)
Species where no ortholog for RAP1GDS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RAP1GDS1 Gene

ENSEMBL:
Gene Tree for RAP1GDS1 (if available)
TreeFam:
Gene Tree for RAP1GDS1 (if available)

Paralogs for RAP1GDS1 Gene

Pseudogenes.org Pseudogenes for RAP1GDS1 Gene

genes like me logo Genes that share paralogs with RAP1GDS1: view

No data available for Paralogs for RAP1GDS1 Gene

Variants for RAP1GDS1 Gene

Sequence variations from dbSNP and Humsavar for RAP1GDS1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10000338 -- 98,428,355(+) tggga(C/T)ttaat intron-variant
rs1000040232 -- 98,392,061(+) GCATT(A/T)GGTAA intron-variant, reference, missense
rs1000086797 -- 98,399,282(+) GGCTA(C/G)AGAAT intron-variant
rs1000087170 -- 98,340,828(+) AGTAC(A/G)TATGG intron-variant
rs1000094019 -- 98,384,297(+) ACTTA(C/T)TGGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAP1GDS1 Gene

Variant ID Type Subtype PubMed ID
dgv5344n100 CNV loss 25217958
esv2677923 CNV deletion 23128226
esv2762452 CNV loss 21179565
esv2763801 CNV gain 21179565
esv3575763 CNV gain 25503493
esv3601532 CNV loss 21293372
esv3601533 CNV loss 21293372
esv3601535 CNV loss 21293372
esv3601536 CNV loss 21293372
esv3601537 CNV loss 21293372
nsv1004181 CNV gain 25217958
nsv1010207 CNV loss 25217958
nsv528127 CNV gain 19592680
nsv964076 CNV duplication 23825009
nsv966298 CNV duplication 23825009

Variation tolerance for RAP1GDS1 Gene

Residual Variation Intolerance Score: 31.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.19; 23.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAP1GDS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAP1GDS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAP1GDS1 Gene

Disorders for RAP1GDS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAP1GDS1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
acute lymphocytic leukemia
  • acute lymphoblastic leukemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RAP1GDS1

Genetic Association Database (GAD)
RAP1GDS1
Human Genome Epidemiology (HuGE) Navigator
RAP1GDS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAP1GDS1
genes like me logo Genes that share disorders with RAP1GDS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAP1GDS1 Gene

Publications for RAP1GDS1 Gene

  1. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PMID: 19260141) Zemunik T … Rudan I (Croatian medical journal 2009) 3 45 60
  2. SmgGDS regulates cell proliferation, migration, and NF-kappaB transcriptional activity in non-small cell lung carcinoma. (PMID: 17951244) Tew GW … Williams CL (The Journal of biological chemistry 2008) 2 3 60
  3. SmgGDS displays differential binding and exchange activity towards different Ras isoforms. (PMID: 11948427) Vikis HG … Guan KL (Oncogene 2002) 3 4 60
  4. Chromosomal assignment of the human smg GDP dissociation stimulator gene to human chromosome 4q21-q25. (PMID: 8262526) Riess O … Epplen JT (Human genetics 1993) 2 3 60
  5. Molecular cloning of the human cDNA for a stimulatory GDP/GTP exchange protein for c-Ki-ras p21 and smg p21. (PMID: 1549351) Kikuchi A … Takai Y (Oncogene 1992) 3 4 60

Products for RAP1GDS1 Gene

Sources for RAP1GDS1 Gene

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