UniProtKB - Q86X27 (RGPS2_HUMAN)
Protein
Ras-specific guanine nucleotide-releasing factor RalGPS2
Gene
RALGPS2
Organism
Homo sapiens (Human)
Status
Functioni
Guanine nucleotide exchange factor for the small GTPase RALA. May be involved in cytoskeletal organization. May also be involved in the stimulation of transcription in a Ras-independent fashion (By similarity).By similarity
GO - Molecular functioni
- guanyl-nucleotide exchange factor activity Source: UniProtKB-KW
GO - Biological processi
- regulation of Ral protein signal transduction Source: InterPro
- small GTPase mediated signal transduction Source: InterPro
Keywordsi
Molecular function | Guanine-nucleotide releasing factor |
Enzyme and pathway databases
PathwayCommonsi | Q86X27 |
Names & Taxonomyi
Protein namesi | Recommended name: Ras-specific guanine nucleotide-releasing factor RalGPS2Alternative name(s): Ral GEF with PH domain and SH3-binding motif 2 RalA exchange factor RalGPS2 |
Gene namesi | Name:RALGPS2 |
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:30279, RALGPS2 |
MIMi | 617819, gene |
neXtProti | NX_Q86X27 |
VEuPathDBi | HostDB:ENSG00000116191.17 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity
Other locations
- Cytoplasm By similarity
Note: Associates with membranes through the PH domain.By similarity
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Other locations
- cytoplasm Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cell membrane, Cytoplasm, MembranePathology & Biotechi
Involvement in diseasei
RALGPS2 is a potential candidate gene for susceptibility to Alzheimer disease linked to 1q24.1 Publication
Keywords - Diseasei
Alzheimer diseaseOrganism-specific databases
DisGeNETi | 55103 |
NIAGADSi | ENSG00000116191 |
OpenTargetsi | ENSG00000116191 |
PharmGKBi | PA134864387 |
Miscellaneous databases
Pharosi | Q86X27, Tdark |
Genetic variation databases
BioMutai | RALGPS2 |
DMDMi | 74750518 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000322600 | 1 – 583 | Ras-specific guanine nucleotide-releasing factor RalGPS2Add BLAST | 583 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 293 | PhosphoserineBy similarity | 1 | |
Modified residuei | 296 | PhosphoserineBy similarity | 1 | |
Modified residuei | 308 | PhosphoserineCombined sources | 1 | |
Modified residuei | 311 | PhosphoserineCombined sources | 1 | |
Modified residuei | 326 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 329 | PhosphoserineCombined sources | 1 | |
Modified residuei | 343 | PhosphoserineCombined sources | 1 | |
Modified residuei | 361 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 374 | PhosphoserineCombined sources | 1 | |
Modified residuei | 422 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q86X27 |
jPOSTi | Q86X27 |
MassIVEi | Q86X27 |
MaxQBi | Q86X27 |
PaxDbi | Q86X27 |
PeptideAtlasi | Q86X27 |
PRIDEi | Q86X27 |
ProteomicsDBi | 70228 [Q86X27-1] 70229 [Q86X27-2] |
PTM databases
GlyGeni | Q86X27, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q86X27 |
PhosphoSitePlusi | Q86X27 |
Expressioni
Gene expression databases
Bgeei | ENSG00000116191, Expressed in testis and 216 other tissues |
ExpressionAtlasi | Q86X27, baseline and differential |
Genevisiblei | Q86X27, HS |
Organism-specific databases
HPAi | ENSG00000116191, Tissue enhanced (testis) |
Interactioni
Subunit structurei
Interacts with the SH3 domains of GRB2 and PLCG1.
Interacts with RALA.
By similarityBinary interactionsi
Q86X27
With | #Exp. | IntAct |
---|---|---|
OSBPL3 [Q9H4L5] | 3 | EBI-1050841,EBI-1051317 |
GO - Molecular functioni
- guanyl-nucleotide exchange factor activity Source: UniProtKB-KW
Protein-protein interaction databases
BioGRIDi | 120413, 42 interactors |
IntActi | Q86X27, 8 interactors |
MINTi | Q86X27 |
STRINGi | 9606.ENSP00000356607 |
Miscellaneous databases
RNActi | Q86X27, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 49 – 287 | Ras-GEFPROSITE-ProRule annotationAdd BLAST | 239 | |
Domaini | 457 – 569 | PHPROSITE-ProRule annotationAdd BLAST | 113 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 459 – 583 | Required for stimulation of nucleotide exchange by RALABy similarityAdd BLAST | 125 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 324 – 327 | PXXP | 4 |
Domaini
The PH domain mediates binding to phosphatidylinositol 4,5-bisphosphate.By similarity
Phylogenomic databases
eggNOGi | KOG3417, Eukaryota |
GeneTreei | ENSGT00940000154079 |
HOGENOMi | CLU_021333_0_1_1 |
InParanoidi | Q86X27 |
OMAi | SPGCYYS |
OrthoDBi | 343666at2759 |
PhylomeDBi | Q86X27 |
TreeFami | TF352150 |
Family and domain databases
CDDi | cd00155, RasGEF, 1 hit |
Gene3Di | 1.10.840.10, 1 hit 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR011993, PH-like_dom_sf IPR001849, PH_domain IPR030708, RalGPS1/2 IPR008937, Ras-like_GEF IPR023578, Ras_GEF_dom_sf IPR001895, RASGEF_cat_dom IPR036964, RASGEF_cat_dom_sf |
PANTHERi | PTHR23113, PTHR23113, 1 hit PTHR23113:SF180, PTHR23113:SF180, 1 hit |
Pfami | View protein in Pfam PF00169, PH, 1 hit PF00617, RasGEF, 1 hit |
SMARTi | View protein in SMART SM00233, PH, 1 hit SM00147, RasGEF, 1 hit |
SUPFAMi | SSF48366, SSF48366, 1 hit |
PROSITEi | View protein in PROSITE PS50003, PH_DOMAIN, 1 hit PS50009, RASGEF_CAT, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q86X27-1) [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
MDLMNGQASS VNIAATASEK SSSSESLSDK GSELKKSFDA VVFDVLKVTP
60 70 80 90 100
EEYAGQITLM DVPVFKAIQP DELSSCGWNK KEKYSSAPNA VAFTRRFNHV
110 120 130 140 150
SFWVVREILH AQTLKIRAEV LSHYIKTAKK LYELNNLHAL MAVVSGLQSA
160 170 180 190 200
PIFRLTKTWA LLSRKDKTTF EKLEYVMSKE DNYKRLRDYI SSLKMTPCIP
210 220 230 240 250
YLGIYLSDLT YIDSAYPSTG SILENEQRSN LMNNILRIIS DLQQSCEYDI
260 270 280 290 300
PMLPHVQKYL NSVQYIEELQ KFVEDDNYKL SLKIEPGTST PRSAASREDL
310 320 330 340 350
VGPEVGASPQ SGRKSVAAEG ALLPQTPPSP RNLIPHGHRK CHSLGYNFIH
360 370 380 390 400
KMNTAEFKSA TFPNAGPRHL LDDSVMEPHA PSRGQAESST LSSGISIGSS
410 420 430 440 450
DGSELSEETS WPAFERNRLY HSLGPVTRVA RNGYRSHMKA SSSAESEDLA
460 470 480 490 500
VHLYPGAVTI QGVLRRKTLL KEGKKPTVAS WTKYWAALCG TQLFYYAAKS
510 520 530 540 550
LKATERKHFK STSNKNVSVI GWMVMMADDP EHPDLFLLTD SEKGNSYKFQ
560 570 580
AGNRMNAMLW FKHLSAACQS NKQQVPTNLM TFE
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7C2H2 | H7C2H2_HUMAN | Ras-specific guanine nucleotide-rel... | RALGPS2 | 99 | Annotation score: | ||
A0A0A0MR31 | A0A0A0MR31_HUMAN | Ras-specific guanine nucleotide-rel... | RALGPS2 | 266 | Annotation score: | ||
H0Y338 | H0Y338_HUMAN | Ras-specific guanine nucleotide-rel... | RALGPS2 | 146 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 395 | I → V in BAH13547 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_039468 | 225 | N → S. Corresponds to variant dbSNP:rs35161510Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_031971 | 280 – 583 | Missing in isoform 2. 1 PublicationAdd BLAST | 304 | |
Alternative sequenceiVSP_054909 | 416 – 441 | Missing in isoform 3. 1 PublicationAdd BLAST | 26 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK001106 mRNA Translation: BAA91506.1 AK301753 mRNA Translation: BAH13547.1 AL162255 Genomic DNA No translation available. AL355520 Genomic DNA No translation available. CH471067 Genomic DNA Translation: EAW91028.1 CH471067 Genomic DNA Translation: EAW91029.1 BC047391 mRNA Translation: AAH47391.1 |
CCDSi | CCDS1325.1 [Q86X27-1] CCDS65733.1 [Q86X27-3] |
RefSeqi | NP_001273176.1, NM_001286247.1 [Q86X27-3] NP_689876.2, NM_152663.4 [Q86X27-1] XP_006711473.1, XM_006711410.3 [Q86X27-1] |
Genome annotation databases
Ensembli | ENST00000367634; ENSP00000356606; ENSG00000116191 [Q86X27-3] ENST00000367635; ENSP00000356607; ENSG00000116191 [Q86X27-1] |
GeneIDi | 55103 |
KEGGi | hsa:55103 |
UCSCi | uc001glz.5, human [Q86X27-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK001106 mRNA Translation: BAA91506.1 AK301753 mRNA Translation: BAH13547.1 AL162255 Genomic DNA No translation available. AL355520 Genomic DNA No translation available. CH471067 Genomic DNA Translation: EAW91028.1 CH471067 Genomic DNA Translation: EAW91029.1 BC047391 mRNA Translation: AAH47391.1 |
CCDSi | CCDS1325.1 [Q86X27-1] CCDS65733.1 [Q86X27-3] |
RefSeqi | NP_001273176.1, NM_001286247.1 [Q86X27-3] NP_689876.2, NM_152663.4 [Q86X27-1] XP_006711473.1, XM_006711410.3 [Q86X27-1] |
3D structure databases
SMRi | Q86X27 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120413, 42 interactors |
IntActi | Q86X27, 8 interactors |
MINTi | Q86X27 |
STRINGi | 9606.ENSP00000356607 |
PTM databases
GlyGeni | Q86X27, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q86X27 |
PhosphoSitePlusi | Q86X27 |
Genetic variation databases
BioMutai | RALGPS2 |
DMDMi | 74750518 |
Proteomic databases
EPDi | Q86X27 |
jPOSTi | Q86X27 |
MassIVEi | Q86X27 |
MaxQBi | Q86X27 |
PaxDbi | Q86X27 |
PeptideAtlasi | Q86X27 |
PRIDEi | Q86X27 |
ProteomicsDBi | 70228 [Q86X27-1] 70229 [Q86X27-2] |
Protocols and materials databases
Antibodypediai | 34414, 101 antibodies |
Genome annotation databases
Ensembli | ENST00000367634; ENSP00000356606; ENSG00000116191 [Q86X27-3] ENST00000367635; ENSP00000356607; ENSG00000116191 [Q86X27-1] |
GeneIDi | 55103 |
KEGGi | hsa:55103 |
UCSCi | uc001glz.5, human [Q86X27-1] |
Organism-specific databases
CTDi | 55103 |
DisGeNETi | 55103 |
GeneCardsi | RALGPS2 |
HGNCi | HGNC:30279, RALGPS2 |
HPAi | ENSG00000116191, Tissue enhanced (testis) |
MIMi | 617819, gene |
neXtProti | NX_Q86X27 |
NIAGADSi | ENSG00000116191 |
OpenTargetsi | ENSG00000116191 |
PharmGKBi | PA134864387 |
VEuPathDBi | HostDB:ENSG00000116191.17 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3417, Eukaryota |
GeneTreei | ENSGT00940000154079 |
HOGENOMi | CLU_021333_0_1_1 |
InParanoidi | Q86X27 |
OMAi | SPGCYYS |
OrthoDBi | 343666at2759 |
PhylomeDBi | Q86X27 |
TreeFami | TF352150 |
Enzyme and pathway databases
PathwayCommonsi | Q86X27 |
Miscellaneous databases
BioGRID-ORCSi | 55103, 4 hits in 884 CRISPR screens |
ChiTaRSi | RALGPS2, human |
GenomeRNAii | 55103 |
Pharosi | Q86X27, Tdark |
PROi | PR:Q86X27 |
RNActi | Q86X27, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000116191, Expressed in testis and 216 other tissues |
ExpressionAtlasi | Q86X27, baseline and differential |
Genevisiblei | Q86X27, HS |
Family and domain databases
CDDi | cd00155, RasGEF, 1 hit |
Gene3Di | 1.10.840.10, 1 hit 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR011993, PH-like_dom_sf IPR001849, PH_domain IPR030708, RalGPS1/2 IPR008937, Ras-like_GEF IPR023578, Ras_GEF_dom_sf IPR001895, RASGEF_cat_dom IPR036964, RASGEF_cat_dom_sf |
PANTHERi | PTHR23113, PTHR23113, 1 hit PTHR23113:SF180, PTHR23113:SF180, 1 hit |
Pfami | View protein in Pfam PF00169, PH, 1 hit PF00617, RasGEF, 1 hit |
SMARTi | View protein in SMART SM00233, PH, 1 hit SM00147, RasGEF, 1 hit |
SUPFAMi | SSF48366, SSF48366, 1 hit |
PROSITEi | View protein in PROSITE PS50003, PH_DOMAIN, 1 hit PS50009, RASGEF_CAT, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RGPS2_HUMAN | |
Accessioni | Q86X27Primary (citable) accession number: Q86X27 Secondary accession number(s): B7Z7B1 Q9NW78 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 26, 2008 |
Last sequence update: | June 1, 2003 | |
Last modified: | February 10, 2021 | |
This is version 163 of the entry and version 1 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - 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