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Protein

Ras-specific guanine nucleotide-releasing factor RalGPS2

Gene

RALGPS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Biological processi

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Names & Taxonomyi

Protein namesi
Recommended name:
Ras-specific guanine nucleotide-releasing factor RalGPS2
Alternative name(s):
Ral GEF with PH domain and SH3-binding motif 2
RalA exchange factor RalGPS2
Gene namesi
Name:RALGPS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000116191.17
HGNCiHGNC:30279 RALGPS2
MIMi617819 gene
neXtProtiNX_Q86X27

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

RALGPS2 is a potential candidate gene for susceptibility to Alzheimer disease linked to 1q24.1 Publication

Keywords - Diseasei

Alzheimer disease

Organism-specific databases

OpenTargetsiENSG00000116191
PharmGKBiPA134864387

Polymorphism and mutation databases

DMDMi74750518

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003226001 – 583Ras-specific guanine nucleotide-releasing factor RalGPS2Add BLAST583

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei293PhosphoserineBy similarity1
Modified residuei296PhosphoserineBy similarity1
Modified residuei308PhosphoserineCombined sources1
Modified residuei311PhosphoserineCombined sources1
Modified residuei326PhosphothreonineCombined sources1
Modified residuei329PhosphoserineCombined sources1
Modified residuei343PhosphoserineCombined sources1
Modified residuei361PhosphothreonineCombined sources1
Modified residuei374PhosphoserineCombined sources1
Modified residuei422PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ86X27
MaxQBiQ86X27
PaxDbiQ86X27
PeptideAtlasiQ86X27
PRIDEiQ86X27

PTM databases

iPTMnetiQ86X27
PhosphoSitePlusiQ86X27

Expressioni

Gene expression databases

BgeeiENSG00000116191
CleanExiHS_RALGPS2
ExpressionAtlasiQ86X27 baseline and differential
GenevisibleiQ86X27 HS

Organism-specific databases

HPAiHPA027143
HPA028328

Interactioni

Subunit structurei

Interacts with the SH3 domains of GRB2 and PLCG1. Interacts with RALA.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120413, 35 interactors
IntActiQ86X27, 3 interactors
MINTiQ86X27
STRINGi9606.ENSP00000356607

Structurei

3D structure databases

ProteinModelPortaliQ86X27
SMRiQ86X27
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini49 – 287Ras-GEFPROSITE-ProRule annotationAdd BLAST239
Domaini457 – 569PHPROSITE-ProRule annotationAdd BLAST113

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni459 – 583Required for stimulation of nucleotide exchange by RALABy similarityAdd BLAST125

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi324 – 327PXXP4

Domaini

The PH domain mediates binding to phosphatidylinositol 4,5-bisphosphate.By similarity

Phylogenomic databases

eggNOGiENOG410IQ6R Eukaryota
ENOG410YV9P LUCA
GeneTreeiENSGT00910000143985
HOGENOMiHOG000008021
HOVERGENiHBG059258
InParanoidiQ86X27
OMAiKFQAGSR
OrthoDBiEOG091G0NUM
PhylomeDBiQ86X27
TreeFamiTF352150

Family and domain databases

CDDicd00155 RasGEF, 1 hit
Gene3Di1.10.840.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR030708 RalGPS1/2
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR036964 RASGEF_cat_dom_sf
PANTHERiPTHR23113:SF180 PTHR23113:SF180, 1 hit
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF00617 RasGEF, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00147 RasGEF, 1 hit
SUPFAMiSSF48366 SSF48366, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS50009 RASGEF_CAT, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86X27-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:583
Mass (Da):65,167
Last modified:June 1, 2003 - v1
Checksum:iB6D85A8ACBEBED15
GO
Isoform 2 (identifier: Q86X27-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     280-583: Missing.

Note: No experimental confirmation available.
Show »
Length:279
Mass (Da):31,856
Checksum:i92195039C78F56EA
GO
Isoform 3 (identifier: Q86X27-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     416-441: Missing.

Note: No experimental confirmation available.
Show »
Length:557
Mass (Da):62,158
Checksum:iEB18191A6C7200CA
GO

Sequence cautioni

The sequence CAH71098 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI21919 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI21925 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti395I → V in BAH13547 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039468225N → S. Corresponds to variant dbSNP:rs35161510Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_031971280 – 583Missing in isoform 2. 1 PublicationAdd BLAST304
Alternative sequenceiVSP_054909416 – 441Missing in isoform 3. 1 PublicationAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001106 mRNA Translation: BAA91506.1
AK301753 mRNA Translation: BAH13547.1
AL162255, AL355520 Genomic DNA Translation: CAH71096.1
AL162255, AL355520 Genomic DNA Translation: CAH71097.1
AL162255, AL355520 Genomic DNA Translation: CAH71098.1 Sequence problems.
AL355520, AL162255 Genomic DNA Translation: CAI21918.1
AL355520, AL162255 Genomic DNA Translation: CAI21919.1 Sequence problems.
AL355520, AL162255 Genomic DNA Translation: CAI21920.1
AL355520 Genomic DNA Translation: CAI21925.1 Sequence problems.
CH471067 Genomic DNA Translation: EAW91028.1
CH471067 Genomic DNA Translation: EAW91029.1
BC047391 mRNA Translation: AAH47391.1
CCDSiCCDS1325.1 [Q86X27-1]
CCDS65733.1 [Q86X27-3]
RefSeqiNP_001273176.1, NM_001286247.1 [Q86X27-3]
NP_689876.2, NM_152663.4 [Q86X27-1]
XP_006711473.1, XM_006711410.3 [Q86X27-1]
UniGeneiHs.632485
Hs.657592

Genome annotation databases

EnsembliENST00000367634; ENSP00000356606; ENSG00000116191 [Q86X27-3]
ENST00000367635; ENSP00000356607; ENSG00000116191 [Q86X27-1]
GeneIDi55103
KEGGihsa:55103
UCSCiuc001glz.5 human [Q86X27-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRGPS2_HUMAN
AccessioniPrimary (citable) accession number: Q86X27
Secondary accession number(s): B7Z7B1
, Q5T5Z1, Q5VZ67, Q9NW78
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: June 1, 2003
Last modified: May 23, 2018
This is version 144 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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