Q86X27 (RGPS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 87.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 583 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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-biphosphate By similarity. |
| Involvement in disease | Note=RALGPS2 is a potential candidate gene for susceptibility to Alzheimer disease linked to 1q24. Ref.6 |
| 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 component | Cell membrane Cytoplasm Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Alzheimer disease |
| Molecular function | Guanine-nucleotide releasing factor |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | small GTPase mediated signal transduction Inferred from electronic annotation. Source: InterPro |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | guanyl-nucleotide exchange factor activity Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 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. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 583 | 583 | Ras-specific guanine nucleotide-releasing factor RalGPS2 | PRO_0000322600 | |||||
Regions | |||||||||
| Domain | 49 – 287 | 239 | Ras-GEF | ||||||
| Domain | 457 – 569 | 113 | PH | ||||||
| Region | 459 – 583 | 125 | Required for stimulation of nucleotide exchange by RALA By similarity | ||||||
| Motif | 324 – 327 | 4 | PXXP | ||||||
Amino acid modifications | |||||||||
| Modified residue | 293 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 296 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 308 | 1 | Phosphoserine Ref.8 Ref.9 | ||||||
| Modified residue | 311 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 326 | 1 | Phosphothreonine Ref.5 Ref.8 Ref.9 | ||||||
| Modified residue | 329 | 1 | Phosphoserine Ref.5 Ref.8 Ref.9 Ref.10 | ||||||
| Modified residue | 343 | 1 | Phosphoserine Ref.5 | ||||||
| Modified residue | 422 | 1 | Phosphoserine Ref.7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 280 – 583 | 304 | Missing in isoform 2. | VSP_031971 | |||||
| Natural variant | 225 | 1 | N → S. Corresponds to variant rs35161510 [ dbSNP | Ensembl ]. | VAR_039468 | |||||
Sequences
| ||||||||||||||||||||||||
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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Embryo. |
| [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. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [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. 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis. |
| [5] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-326; SER-329 AND SER-343, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [6] | "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: 17564960] [Abstract] Cited for: POSSIBLE INVOLVEMENT IN ALZHEIMER DISEASE. |
| [7] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-422, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-308; SER-311; THR-326 AND SER-329, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [9] | "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: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-293; SER-296; SER-308; THR-326 AND SER-329, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [10] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-329, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK001106 mRNA. Translation: BAA91506.1. 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. |
| IPI | IPI00334126. IPI00514928. |
| RefSeq | NP_689876.2. NM_152663.3. |
| UniGene | Hs.632485. |
3D structure databases | |
| ProteinModelPortal | Q86X27. |
| SMR | Q86X27. Positions 43-286, 459-572. |
| ModBase | Search... |
Protein-protein interaction databases | |
| MINT | MINT-1631677. |
| STRING | Q86X27. |
PTM databases | |
| PhosphoSite | Q86X27. |
Polymorphism databases | |
| DMDM | 74750518. |
Proteomic databases | |
| PRIDE | Q86X27. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000367635; ENSP00000356607; ENSG00000116191. |
| GeneID | 55103. |
| KEGG | hsa:55103. |
| UCSC | uc001gly.1. human. uc001glz.1. human. |
Organism-specific databases | |
| CTD | 55103. |
| GeneCards | GC01P178694. |
| H-InvDB | HIX0001369. |
| HGNC | HGNC:30279. RALGPS2. |
| HPA | HPA027143. HPA028328. |
| neXtProt | NX_Q86X27. |
| PharmGKB | PA134864387. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | HBG445143. |
| HOVERGEN | HBG059258. |
| InParanoid | Q86X27. |
| OMA | QSNRQQV. |
| OrthoDB | EOG45DWP2. |
| PhylomeDB | Q86X27. |
Gene expression databases | |
| ArrayExpress | Q86X27. |
| Bgee | Q86X27. |
| CleanEx | HS_RALGPS2. |
| Genevestigator | Q86X27. |
Family and domain databases | |
| InterPro | IPR011993. PH_type. IPR001849. Pleckstrin_homology. IPR023578. Ras_GEF_dom. IPR001895. RasGRF_CDC25. [Graphical view] |
| Gene3D | G3DSA:2.30.29.30. PH_type. 1 hit. G3DSA:1.10.840.10. RasGRF_CDC25. 1 hit. |
| Pfam | PF00617. RasGEF. 1 hit. [Graphical view] |
| SMART | SM00233. PH. 1 hit. SM00147. RasGEF. 1 hit. [Graphical view] |
| SUPFAM | SSF48366. Ras_GEF. 1 hit. |
| PROSITE | PS50003. PH_DOMAIN. 1 hit. PS00720. RASGEF. False negative. PS50009. RASGEF_CAT. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 58700. |
Entry information
| Entry name | RGPS2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q86X27 Secondary accession number(s): Q5T5Z1, Q5VZ67, Q9NW78 | ||||||||
| Entry history |
| ||||||||
| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with