UniProtKB - P52306 (GDS1_HUMAN)
Protein
Rap1 GTPase-GDP dissociation stimulator 1
Gene
RAP1GDS1
Organism
Homo sapiens (Human)
Status
Functioni
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.
GO - Molecular functioni
- GTPase activator activity Source: UniProtKB
GO - Biological processi
- myosin filament assembly Source: Ensembl
- negative regulation of endoplasmic reticulum calcium ion concentration Source: UniProtKB
- positive regulation of GTPase activity Source: GO_Central
- positive regulation of mitochondrial calcium ion concentration Source: UniProtKB
- vascular associated smooth muscle contraction Source: Ensembl
Keywordsi
Molecular function | GTPase activation |
Enzyme and pathway databases
PathwayCommonsi | P52306 |
SignaLinki | P52306 |
SIGNORi | P52306 |
Names & Taxonomyi
Protein namesi | Recommended name: Rap1 GTPase-GDP dissociation stimulator 1Alternative name(s): Exchange factor smgGDS SMG GDS protein SMG P21 stimulatory GDP/GTP exchange protein |
Gene namesi | Name:RAP1GDS1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9859, RAP1GDS1 |
MIMi | 179502, gene |
neXtProti | NX_P52306 |
VEuPathDBi | HostDB:ENSG00000138698.14 |
Subcellular locationi
Cytosol
- cytosol Source: UniProtKB
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Mitochondrion
- mitochondrion Source: UniProtKB
Pathology & Biotechi
Involvement in diseasei
A chromosomal aberration involving RAP1GDS1 has been found in M0 type acute myeloid leukemia. Translocation (t4;11)(q23;p15) with NUP98.1 Publication
A chromosomal aberration involving RAP1GDS1 has been found in T-cell acute lymphocytic leukemia. Translocation t(4;11)(q23;p15) with NUP98.1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 1 – 2 | Breakpoint for translocation to form the NUP98-RAP1GDS1 fusion protein2 Publications | 2 |
Organism-specific databases
DisGeNETi | 5910 |
OpenTargetsi | ENSG00000138698 |
PharmGKBi | PA34221 |
Miscellaneous databases
Pharosi | P52306, Tbio |
Genetic variation databases
BioMutai | RAP1GDS1 |
DMDMi | 212276504 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000056759 | 1 – 607 | Rap1 GTPase-GDP dissociation stimulator 1Add BLAST | 607 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 230 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | P52306 |
jPOSTi | P52306 |
MassIVEi | P52306 |
MaxQBi | P52306 |
PaxDbi | P52306 |
PeptideAtlasi | P52306 |
PRIDEi | P52306 |
ProteomicsDBi | 20432 34006 56479 [P52306-1] 56480 [P52306-2] 56481 [P52306-3] |
PTM databases
iPTMneti | P52306 |
MetOSitei | P52306 |
PhosphoSitePlusi | P52306 |
SwissPalmi | P52306 |
Expressioni
Gene expression databases
Bgeei | ENSG00000138698, Expressed in frontal cortex and 246 other tissues |
ExpressionAtlasi | P52306, baseline and differential |
Genevisiblei | P52306, HS |
Organism-specific databases
HPAi | ENSG00000138698, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with RABL3.
1 PublicationBinary interactionsi
Hide detailsP52306
With | #Exp. | IntAct |
---|---|---|
MBIP - isoform 4 [Q9NS73-5] | 3 | EBI-746389,EBI-10182361 |
PLEKHB1 [Q9UF11] | 3 | EBI-746389,EBI-6447271 |
Isoform 4 [P52306-4]
With | #Exp. | IntAct |
---|---|---|
OPTN [Q96CV9] | 3 | EBI-25910540,EBI-748974 |
Isoform 5 [P52306-5]
Protein-protein interaction databases
BioGRIDi | 111845, 103 interactors |
DIPi | DIP-61080N |
IntActi | P52306, 52 interactors |
MINTi | P52306 |
STRINGi | 9606.ENSP00000340454 |
Miscellaneous databases
RNActi | P52306, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P52306 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 77 – 118 | ARM 1Add BLAST | 42 | |
Repeati | 169 – 211 | ARM 2Add BLAST | 43 | |
Repeati | 346 – 390 | ARM 3Add BLAST | 45 | |
Repeati | 391 – 431 | ARM 4Add BLAST | 41 | |
Repeati | 479 – 519 | ARM 5Add BLAST | 41 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG4500, Eukaryota |
GeneTreei | ENSGT00390000014293 |
HOGENOMi | CLU_021124_1_0_1 |
InParanoidi | P52306 |
OMAi | IAWLINN |
OrthoDBi | 561489at2759 |
PhylomeDBi | P52306 |
Family and domain databases
Gene3Di | 1.25.10.10, 3 hits |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR000225, Armadillo IPR040144, RAP1GDS1 |
PANTHERi | PTHR10957, PTHR10957, 1 hit |
Pfami | View protein in Pfam PF00514, Arm, 4 hits |
SMARTi | View protein in SMART SM00185, ARM, 5 hits |
SUPFAMi | SSF48371, SSF48371, 2 hits |
PROSITEi | View protein in PROSITE PS50176, ARM_REPEAT, 2 hits |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P52306-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDNLSDTLKK LKITAVDKTE DSLEGCLDCL LQALAQNNTE TSEKIQASGI
60 70 80 90 100
LQLFASLLTP QSSCKAKVAN IIAEVAKNEF MRIPCVDAGL ISPLVQLLNS
110 120 130 140 150
KDQEVLLQTG RALGNICYDS HEGRSAVDQA GGAQIVIDHL RSLCSITDPA
160 170 180 190 200
NEKLLTVFCG MLMNYSNEND SLQAQLINMG VIPTLVKLLG IHCQNAALTE
210 220 230 240 250
MCLVAFGNLA ELESSKEQFA STNIAEELVK LFKKQIEHDK REMIFEVLAP
260 270 280 290 300
LAENDAIKLQ LVEAGLVECL LEIVQQKVDS DKEDDITELK TGSDLMVLLL
310 320 330 340 350
LGDESMQKLF EGGKGSVFQR VLSWIPSNNH QLQLAGALAI ANFARNDANC
360 370 380 390 400
IHMVDNGIVE KLMDLLDRHV EDGNVTVQHA ALSALRNLAI PVINKAKMLS
410 420 430 440 450
AGVTEAVLKF LKSEMPPVQF KLLGTLRMLI DAQAEAAEQL GKNVKLVERL
460 470 480 490 500
VEWCEAKDHA GVMGESNRLL SALIRHSKSK DVIKTIVQSG GIKHLVTMAT
510 520 530 540 550
SEHVIMQNEA LVALALIAAL ELGTAEKDLE SAKLVQILHR LLADERSAPE
560 570 580 590 600
IKYNSMVLIC ALMGSECLHK EVQDLAFLDV VSKLRSHENK SVAQQASLTE
QRLTVES
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketU3KQJ4 | U3KQJ4_HUMAN | Rap1 GTPase-GDP dissociation stimul... | RAP1GDS1 | 101 | Annotation score: | ||
H0Y8M2 | H0Y8M2_HUMAN | Rap1 GTPase-GDP dissociation stimul... | RAP1GDS1 | 253 | Annotation score: | ||
D6RHH8 | D6RHH8_HUMAN | Rap1 GTPase-GDP dissociation stimul... | RAP1GDS1 | 147 | Annotation score: | ||
D6RHZ7 | D6RHZ7_HUMAN | Rap1 GTPase-GDP dissociation stimul... | RAP1GDS1 | 122 | Annotation score: | ||
D6RB97 | D6RB97_HUMAN | Rap1 GTPase-GDP dissociation stimul... | RAP1GDS1 | 158 | Annotation score: | ||
D6REZ0 | D6REZ0_HUMAN | Rap1 GTPase-GDP dissociation stimul... | RAP1GDS1 | 158 | Annotation score: | ||
D6RBC6 | D6RBC6_HUMAN | Rap1 GTPase-GDP dissociation stimul... | RAP1GDS1 | 118 | Annotation score: | ||
D6RC12 | D6RC12_HUMAN | Rap1 GTPase-GDP dissociation stimul... | RAP1GDS1 | 38 | Annotation score: | ||
D6RC85 | D6RC85_HUMAN | Rap1 GTPase-GDP dissociation stimul... | RAP1GDS1 | 39 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 237 | E → G in AAH98269 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 376 | T → P in AAF43211 (Ref. 3) Curated | 1 | |
Sequence conflicti | 394 | N → D in CAA45067 (PubMed:1549351).Curated | 1 | |
Sequence conflicti | 394 | N → D in AAF32290 (PubMed:11948427).Curated | 1 | |
Sequence conflicti | 593 | A → R in CAA45067 (PubMed:1549351).Curated | 1 | |
Sequence conflicti | 593 | A → R in AAF32290 (PubMed:11948427).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069149 | 56 | S → T1 PublicationCorresponds to variant dbSNP:rs17849535Ensembl. | 1 | |
Natural variantiVAR_049158 | 314 | K → E. Corresponds to variant dbSNP:rs34392334Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043660 | 1 | M → MA in isoform 3, isoform 4, isoform 5 and isoform 6. 1 Publication | 1 | |
Alternative sequenceiVSP_047041 | 121 – 213 | HEGRS…LAELE → Q in isoform 6. CuratedAdd BLAST | 93 | |
Alternative sequenceiVSP_001658 | 122 – 170 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 49 | |
Alternative sequenceiVSP_046214 | 434 | Missing in isoform 4. 1 Publication | 1 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000264572; ENSP00000264572; ENSG00000138698 [P52306-6] ENST00000339360; ENSP00000340454; ENSG00000138698 [P52306-5] ENST00000380158; ENSP00000369503; ENSG00000138698 [P52306-3] ENST00000408900; ENSP00000386223; ENSG00000138698 [P52306-2] ENST00000408927; ENSP00000386153; ENSG00000138698 [P52306-1] ENST00000453712; ENSP00000407157; ENSG00000138698 [P52306-4] |
GeneIDi | 5910 |
KEGGi | hsa:5910 |
UCSCi | uc003htv.5, human [P52306-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5XGC | X-ray | 2.10 | A | 61-607 | [»] | |
5ZHX | X-ray | 3.50 | A/B/C/D | 77-607 | [»] | |
SMRi | P52306 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111845, 103 interactors |
DIPi | DIP-61080N |
IntActi | P52306, 52 interactors |
MINTi | P52306 |
STRINGi | 9606.ENSP00000340454 |
PTM databases
iPTMneti | P52306 |
MetOSitei | P52306 |
PhosphoSitePlusi | P52306 |
SwissPalmi | P52306 |
Genetic variation databases
BioMutai | RAP1GDS1 |
DMDMi | 212276504 |
Proteomic databases
EPDi | P52306 |
jPOSTi | P52306 |
MassIVEi | P52306 |
MaxQBi | P52306 |
PaxDbi | P52306 |
PeptideAtlasi | P52306 |
PRIDEi | P52306 |
ProteomicsDBi | 20432 34006 56479 [P52306-1] 56480 [P52306-2] 56481 [P52306-3] |
Protocols and materials databases
Antibodypediai | 6907, 145 antibodies |
DNASUi | 5910 |
Genome annotation databases
Ensembli | ENST00000264572; ENSP00000264572; ENSG00000138698 [P52306-6] ENST00000339360; ENSP00000340454; ENSG00000138698 [P52306-5] ENST00000380158; ENSP00000369503; ENSG00000138698 [P52306-3] ENST00000408900; ENSP00000386223; ENSG00000138698 [P52306-2] ENST00000408927; ENSP00000386153; ENSG00000138698 [P52306-1] ENST00000453712; ENSP00000407157; ENSG00000138698 [P52306-4] |
GeneIDi | 5910 |
KEGGi | hsa:5910 |
UCSCi | uc003htv.5, human [P52306-1] |
Organism-specific databases
CTDi | 5910 |
DisGeNETi | 5910 |
GeneCardsi | RAP1GDS1 |
HGNCi | HGNC:9859, RAP1GDS1 |
HPAi | ENSG00000138698, Low tissue specificity |
MIMi | 179502, gene |
neXtProti | NX_P52306 |
OpenTargetsi | ENSG00000138698 |
PharmGKBi | PA34221 |
VEuPathDBi | HostDB:ENSG00000138698.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4500, Eukaryota |
GeneTreei | ENSGT00390000014293 |
HOGENOMi | CLU_021124_1_0_1 |
InParanoidi | P52306 |
OMAi | IAWLINN |
OrthoDBi | 561489at2759 |
PhylomeDBi | P52306 |
Enzyme and pathway databases
PathwayCommonsi | P52306 |
SignaLinki | P52306 |
SIGNORi | P52306 |
Miscellaneous databases
BioGRID-ORCSi | 5910, 14 hits in 879 CRISPR screens |
ChiTaRSi | RAP1GDS1, human |
GeneWikii | RAP1GDS1 |
GenomeRNAii | 5910 |
Pharosi | P52306, Tbio |
PROi | PR:P52306 |
RNActi | P52306, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000138698, Expressed in frontal cortex and 246 other tissues |
ExpressionAtlasi | P52306, baseline and differential |
Genevisiblei | P52306, HS |
Family and domain databases
Gene3Di | 1.25.10.10, 3 hits |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR000225, Armadillo IPR040144, RAP1GDS1 |
PANTHERi | PTHR10957, PTHR10957, 1 hit |
Pfami | View protein in Pfam PF00514, Arm, 4 hits |
SMARTi | View protein in SMART SM00185, ARM, 5 hits |
SUPFAMi | SSF48371, SSF48371, 2 hits |
PROSITEi | View protein in PROSITE PS50176, ARM_REPEAT, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GDS1_HUMAN | |
Accessioni | P52306Primary (citable) accession number: P52306 Secondary accession number(s): E9PH06 Q9NZA8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | November 4, 2008 | |
Last modified: | February 10, 2021 | |
This is version 168 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants