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UniProtKB - Q86X27 (RGPS2_HUMAN)

UniProt

Q86X27 - RGPS2_HUMAN

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Protein

Ras-specific guanine nucleotide-releasing factor RalGPS2

Gene

RALGPS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Guanine-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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:30279. RALGPS2.

Subcellular locationi

  • Cytoplasm By similarity
  • Cell membrane By similarity

    • Note: Associates with membranes through the PH domain.By similarity

GO - Cellular componenti

Complete GO annotation...

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.

Keywords - Diseasei

Alzheimer disease

Organism-specific databases

PharmGKBiPA134864387.

Polymorphism and mutation databases

DMDMi74750518.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 583583Ras-specific guanine nucleotide-releasing factor RalGPS2PRO_0000322600Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei293 – 2931PhosphoserineBy similarity
Modified residuei296 – 2961PhosphoserineBy similarity
Modified residuei308 – 3081PhosphoserineCombined sources
Modified residuei311 – 3111PhosphoserineCombined sources
Modified residuei326 – 3261PhosphothreonineCombined sources
Modified residuei329 – 3291PhosphoserineCombined sources
Modified residuei343 – 3431PhosphoserineCombined sources
Modified residuei361 – 3611PhosphothreonineCombined sources
Modified residuei374 – 3741PhosphoserineCombined sources
Modified residuei422 – 4221PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ86X27.
MaxQBiQ86X27.
PaxDbiQ86X27.
PeptideAtlasiQ86X27.
PRIDEiQ86X27.

PTM databases

iPTMnetiQ86X27.
PhosphoSiteiQ86X27.

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

Protein-protein interaction databases

BioGridi120413. 4 interactions.
IntActiQ86X27. 2 interactions.
MINTiMINT-1631677.
STRINGi9606.ENSP00000356607.

Structurei

3D structure databases

ProteinModelPortaliQ86X27.
SMRiQ86X27. Positions 43-286, 459-572.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini49 – 287239Ras-GEFPROSITE-ProRule annotationAdd
BLAST
Domaini457 – 569113PHPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni459 – 583125Required for stimulation of nucleotide exchange by RALABy similarityAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi324 – 3274PXXP

Domaini

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

Sequence similaritiesi

Contains 1 PH domain.PROSITE-ProRule annotation
Contains 1 Ras-GEF domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IQ6R. Eukaryota.
ENOG410YV9P. LUCA.
GeneTreeiENSGT00810000125349.
HOGENOMiHOG000008021.
HOVERGENiHBG059258.
InParanoidiQ86X27.
OMAiSPGCYYS.
OrthoDBiEOG091G0NUM.
PhylomeDBiQ86X27.
TreeFamiTF352150.

Family and domain databases

Gene3Di1.10.840.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR030708. RalGPS1/2.
IPR023578. Ras_GEF_dom.
IPR001895. RASGEF_cat_dom.
[Graphical view]
PANTHERiPTHR23113:SF180. PTHR23113:SF180. 1 hit.
PfamiPF00169. PH. 1 hit.
PF00617. RasGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00147. RasGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48366. SSF48366. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
PS50009. RASGEF_CAT. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti395 – 3951I → V in BAH13547 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti225 – 2251N → S.
Corresponds to variant rs35161510 [ dbSNP | Ensembl ].		VAR_039468

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei280 – 583304Missing in isoform 2. 1 PublicationVSP_031971Add
BLAST
Alternative sequencei416 – 44126Missing in isoform 3. 1 PublicationVSP_054909Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ86X27.
SMRiQ86X27. Positions 43-286, 459-572.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120413. 4 interactions.
IntActiQ86X27. 2 interactions.
MINTiMINT-1631677.
STRINGi9606.ENSP00000356607.

PTM databases

iPTMnetiQ86X27.
PhosphoSiteiQ86X27.

Polymorphism and mutation databases

DMDMi74750518.

Proteomic databases

EPDiQ86X27.
MaxQBiQ86X27.
PaxDbiQ86X27.
PeptideAtlasiQ86X27.
PRIDEiQ86X27.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55103.
GeneCardsiRALGPS2.
HGNCiHGNC:30279. RALGPS2.
HPAiHPA027143.
HPA028328.
neXtProtiNX_Q86X27.
PharmGKBiPA134864387.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQ6R. Eukaryota.
ENOG410YV9P. LUCA.
GeneTreeiENSGT00810000125349.
HOGENOMiHOG000008021.
HOVERGENiHBG059258.
InParanoidiQ86X27.
OMAiSPGCYYS.
OrthoDBiEOG091G0NUM.
PhylomeDBiQ86X27.
TreeFamiTF352150.

Miscellaneous databases

ChiTaRSiRALGPS2. human.
GenomeRNAii55103.
PROiQ86X27.

Gene expression databases

BgeeiENSG00000116191.
CleanExiHS_RALGPS2.
ExpressionAtlasiQ86X27. baseline and differential.
GenevisibleiQ86X27. HS.

Family and domain databases

Gene3Di1.10.840.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR030708. RalGPS1/2.
IPR023578. Ras_GEF_dom.
IPR001895. RASGEF_cat_dom.
[Graphical view]
PANTHERiPTHR23113:SF180. PTHR23113:SF180. 1 hit.
PfamiPF00169. PH. 1 hit.
PF00617. RasGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00147. RasGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48366. SSF48366. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
PS50009. RASGEF_CAT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRGPS2_HUMAN
AccessioniPrimary (citable) accession number: Q86X27
Secondary accession number(s): B7Z7B1
, Q5T5Z1, Q5VZ67, Q9NW78
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: June 1, 2003
Last modified: September 7, 2016
This is version 132 of the entry and version 1 of the sequence. [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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.