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Q86X27 (RGPS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:RALGPS2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length583 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Cytoplasm By similarity. Cell membrane By similarity. Note: Associates with membranes through the PH domain By similarity.

Domain

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

Involvement in disease

RALGPS2 is a potential candidate gene for susceptibility to Alzheimer disease linked to 1q24. Ref.5

Sequence similarities

Contains 1 PH domain.

Contains 1 Ras-GEF domain.

Sequence caution

The sequence CAH71098.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI21919.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI21925.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Cellular componentCell membrane
Cytoplasm
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseAlzheimer disease
   Molecular functionGuanine-nucleotide releasing factor
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processsmall GTPase mediated signal transduction

Inferred from electronic annotation. Source: InterPro

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionguanyl-nucleotide exchange factor activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86X27-1)

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.
Isoform 2 (identifier: Q86X27-2)

The sequence of this isoform differs from the canonical sequence as follows:
     280-583: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q86X27-3)

The sequence of this isoform differs from the canonical sequence as follows:
     416-441: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 583583Ras-specific guanine nucleotide-releasing factor RalGPS2
PRO_0000322600

Regions

Domain49 – 287239Ras-GEF
Domain457 – 569113PH
Region459 – 583125Required for stimulation of nucleotide exchange by RALA By similarity
Motif324 – 3274PXXP

Amino acid modifications

Modified residue3081Phosphoserine Ref.7
Modified residue3111Phosphoserine Ref.7
Modified residue3261Phosphothreonine Ref.7 Ref.9
Modified residue3291Phosphoserine Ref.7 Ref.9

Natural variations

Alternative sequence280 – 583304Missing in isoform 2.
VSP_031971
Alternative sequence416 – 44126Missing in isoform 3.
VSP_054909
Natural variant2251N → S.
Corresponds to variant rs35161510 [ dbSNP | Ensembl ].
VAR_039468

Experimental info

Sequence conflict3951I → V in BAH13547. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2003. Version 1.
Checksum: B6D85A8ACBEBED15

FASTA58365,167
        10         20         30         40         50         60 
MDLMNGQASS VNIAATASEK SSSSESLSDK GSELKKSFDA VVFDVLKVTP EEYAGQITLM 

        70         80         90        100        110        120 
DVPVFKAIQP DELSSCGWNK KEKYSSAPNA VAFTRRFNHV SFWVVREILH AQTLKIRAEV 

       130        140        150        160        170        180 
LSHYIKTAKK LYELNNLHAL MAVVSGLQSA PIFRLTKTWA LLSRKDKTTF EKLEYVMSKE 

       190        200        210        220        230        240 
DNYKRLRDYI SSLKMTPCIP YLGIYLSDLT YIDSAYPSTG SILENEQRSN LMNNILRIIS 

       250        260        270        280        290        300 
DLQQSCEYDI PMLPHVQKYL NSVQYIEELQ KFVEDDNYKL SLKIEPGTST PRSAASREDL 

       310        320        330        340        350        360 
VGPEVGASPQ SGRKSVAAEG ALLPQTPPSP RNLIPHGHRK CHSLGYNFIH KMNTAEFKSA 

       370        380        390        400        410        420 
TFPNAGPRHL LDDSVMEPHA PSRGQAESST LSSGISIGSS DGSELSEETS WPAFERNRLY 

       430        440        450        460        470        480 
HSLGPVTRVA RNGYRSHMKA SSSAESEDLA VHLYPGAVTI QGVLRRKTLL KEGKKPTVAS 

       490        500        510        520        530        540 
WTKYWAALCG TQLFYYAAKS LKATERKHFK STSNKNVSVI GWMVMMADDP EHPDLFLLTD 

       550        560        570        580 
SEKGNSYKFQ AGNRMNAMLW FKHLSAACQS NKQQVPTNLM TFE 

« Hide

Isoform 2 [UniParc].

Checksum: 92195039C78F56EA
Show »

FASTA27931,856
Isoform 3 [UniParc].

Checksum: EB18191A6C7200CA
Show »

FASTA55762,158

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
Tissue: Embryo and Testis.
[2]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[5]"A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population."
Liu F., Arias-Vasquez A., Sleegers K., Aulchenko Y.S., Kayser M., Sanchez-Juan P., Feng B.J., Bertoli-Avella A.M., van Swieten J., Axenovich T.I., Heutink P., van Broeckhoven C., Oostra B.A., van Duijn C.M.
Am. J. Hum. Genet. 81:17-31(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: POSSIBLE INVOLVEMENT IN ALZHEIMER DISEASE.
[6]"Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment."
Carrascal M., Ovelleiro D., Casas V., Gay M., Abian J.
J. Proteome Res. 7:5167-5176(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: T-cell.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-308; SER-311; THR-326 AND SER-329, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-326 AND SER-329, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS1325.1. [Q86X27-1]
RefSeqNP_001273176.1. NM_001286247.1.
NP_689876.2. NM_152663.4. [Q86X27-1]
XP_006711472.1. XM_006711409.1. [Q86X27-1]
XP_006711473.1. XM_006711410.1. [Q86X27-1]
UniGeneHs.632485.
Hs.657592.

3D structure databases

ProteinModelPortalQ86X27.
SMRQ86X27. Positions 43-286, 459-572.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120413. 5 interactions.
IntActQ86X27. 2 interactions.
MINTMINT-1631677.
STRING9606.ENSP00000356607.

PTM databases

PhosphoSiteQ86X27.

Polymorphism databases

DMDM74750518.

Proteomic databases

MaxQBQ86X27.
PaxDbQ86X27.
PRIDEQ86X27.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367635; ENSP00000356607; ENSG00000116191. [Q86X27-1]
GeneID55103.
KEGGhsa:55103.
UCSCuc001gly.1. human. [Q86X27-2]
uc001glz.3. human. [Q86X27-1]

Organism-specific databases

CTD55103.
GeneCardsGC01P178694.
HGNCHGNC:30279. RALGPS2.
HPAHPA027143.
HPA028328.
neXtProtNX_Q86X27.
PharmGKBPA134864387.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG275669.
HOGENOMHOG000008021.
HOVERGENHBG059258.
InParanoidQ86X27.
OMAYGHRKCH.
OrthoDBEOG70KGP7.
PhylomeDBQ86X27.
TreeFamTF352150.

Gene expression databases

BgeeQ86X27.
CleanExHS_RALGPS2.
GenevestigatorQ86X27.

Family and domain databases

Gene3D1.10.840.10. 1 hit.
2.30.29.30. 1 hit.
InterProIPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR023578. Ras_GEF_dom.
IPR001895. RasGRF_CDC25.
[Graphical view]
PfamPF00617. RasGEF. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
SM00147. RasGEF. 1 hit.
[Graphical view]
SUPFAMSSF48366. SSF48366. 1 hit.
PROSITEPS50003. PH_DOMAIN. 1 hit.
PS50009. RASGEF_CAT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRALGPS2. human.
GenomeRNAi55103.
NextBio35480188.
PROQ86X27.

Entry information

Entry nameRGPS2_HUMAN
AccessionPrimary (citable) accession number: Q86X27
Secondary accession number(s): B7Z7B1 expand/collapse secondary AC list , Q5T5Z1, Q5VZ67, Q9NW78
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: June 1, 2003
Last modified: July 9, 2014
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM