Q5JS13 (RGPS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 55.
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 RalGPS1 Alternative name(s): Ral GEF with PH domain and SH3-binding motif 1 Ral guanine nucleotide exchange factor 2 Short name=RalGEF 2 RalA exchange factor RalGPS1 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 557 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Guanine nucleotide exchange factor (GEF) for the small GTPase RALA. May be involved in cytoskeletal organization By similarity. Guanine nucleotide exchange factor for. Ref.1 Ref.7 |
| Subunit structure | Interacts with the SH3 domains of GRB2, NCK1, PLCG1 and SRC. Ref.1 |
| Subcellular location | Cytoplasm. Cell membrane. Note: Associates with membranes through the PH domain. Ref.7 |
| Tissue specificity | Widely expressed (at protein level). Isoform 2 is expressed in brain, colon, kidney, pancreas, prostate, skeletal muscle, small intestine, testis, thymus and uterus. Isoform 1 is expressed at high levels in heart and testis and at lower levels in brain, pancreas, skeletal muscle, small intestine and thymus. Ref.1 Ref.7 |
| Domain | The PH domain mediates binding to membranes. It is required for efficient GEF activity. |
| Sequence similarities | Contains 1 PH domain. Contains 1 Ras-GEF domain. |
| Sequence caution | The sequence AAH19329.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAA20808.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Cytoplasm Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Molecular function | Guanine-nucleotide releasing factor |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | intracellular signal transduction Non-traceable author statement Ref.1. Source: UniProtKB small GTPase mediated signal transductionInferred 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 Non-traceable author statement Ref.1. Source: UniProtKB phospholipid bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q5JS13-1) Also known as: RALGPS1B; 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: Q5JS13-2) Also known as: RALGPS1A; The sequence of this isoform differs from the canonical sequence as follows: 347-415: MMCQLSVVES...FSEEMSSGLE → RGRLYATLGPNWRVPVRNSPRTRSCVY 483-490: Missing. 549-557: VPANLMSFE → EAGAAPGPTGTDSHEVDHLEGGAGKEAGPCA | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q5JS13-3) The sequence of this isoform differs from the canonical sequence as follows: 304-384: GPSAGSGSAR...LESRSPRRGL → VSHLSSLSHQ...TLGSRSRRIT 385-557: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q5JS13-4) The sequence of this isoform differs from the canonical sequence as follows: 304-305: GP → AM 306-557: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q5JS13-5) The sequence of this isoform differs from the canonical sequence as follows: 205-213: IYLLDLIYI → RSLNWLIFF 214-557: Missing. | ||||||
| Note: Gene prediction based on EST data. No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q5JS13-6) The sequence of this isoform differs from the canonical sequence as follows: 73-108: ELASCGWSKKEKHSLAPNVVAFTRRFNQVSFWVVRE → KGWPARMEDSLQKSTVSSRPHDTLQFRKTLPVGPGT 109-557: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 7 (identifier: Q5JS13-7) The sequence of this isoform differs from the canonical sequence as follows: 347-415: MMCQLSVVES...FSEEMSSGLE → RGRLYATLGPNWRVPVRNSPRTRSCVY 549-557: VPANLMSFE → EAGAAPGPTGTDSHEVDHLEGGAGKEAGPCA | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 557 | 557 | Ras-specific guanine nucleotide-releasing factor RalGPS1 | PRO_0000333192 | |||||||||||||||||||||||||||||||||||||||
Regions | |||||||||||||||||||||||||||||||||||||||||||
| Domain | 50 – 289 | 240 | Ras-GEF | ||||||||||||||||||||||||||||||||||||||||
| Domain | 431 – 543 | 113 | PH | ||||||||||||||||||||||||||||||||||||||||
| Region | 433 – 557 | 125 | Required for stimulation of nucleotide exchange by RALA | ||||||||||||||||||||||||||||||||||||||||
| Motif | 330 – 333 | 4 | PXXP | ||||||||||||||||||||||||||||||||||||||||
| Compositional bias | 21 – 26 | 6 | Poly-Ser | ||||||||||||||||||||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 73 – 108 | 36 | ELASC…WVVRE → KGWPARMEDSLQKSTVSSRP HDTLQFRKTLPVGPGT in isoform 6. | VSP_033471 | |||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 109 – 557 | 449 | Missing in isoform 6. | VSP_033472 | |||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 205 – 213 | 9 | IYLLDLIYI → RSLNWLIFF in isoform 5. | VSP_033473 | |||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 214 – 557 | 344 | Missing in isoform 5. | VSP_033474 | |||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 304 – 384 | 81 | GPSAG…PRRGL → VSHLSSLSHQGQAEEARLKP TSGQHPAWMWPSSSRVPAAP PASAAPRSPWPRNLRNDQGQ PGAVALTCNPSTLGSRSRRI T in isoform 3. | VSP_033475 | |||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 304 – 305 | 2 | GP → AM in isoform 4. | VSP_033476 | |||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 306 – 557 | 252 | Missing in isoform 4. | VSP_033477 | |||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 347 – 415 | 69 | MMCQL…SSGLE → RGRLYATLGPNWRVPVRNSP RTRSCVY in isoform 2 and isoform 7. | VSP_033478 | |||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 385 – 557 | 173 | Missing in isoform 3. | VSP_033479 | |||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 483 – 490 | 8 | Missing in isoform 2. | VSP_033480 | |||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 549 – 557 | 9 | VPANLMSFE → EAGAAPGPTGTDSHEVDHLE GGAGKEAGPCA in isoform 2 and isoform 7. | VSP_033481 | |||||||||||||||||||||||||||||||||||||||
| Natural variant | 290 | 1 | S → N. Corresponds to variant rs55918931 [ dbSNP | Ensembl ]. | VAR_061785 | |||||||||||||||||||||||||||||||||||||||
Experimental info | |||||||||||||||||||||||||||||||||||||||||||
| Mutagenesis | 148 | 1 | L → A: Loss of activity. Ref.7 | ||||||||||||||||||||||||||||||||||||||||
| Sequence conflict | 86 | 1 | S → T in AAH32372. Ref.6 | ||||||||||||||||||||||||||||||||||||||||
| Sequence conflict | 189 | 1 | E → G in BAG61198. Ref.3 | ||||||||||||||||||||||||||||||||||||||||
| Sequence conflict | 251 | 1 | H → R in BAG61198. Ref.3 | ||||||||||||||||||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||||||||||||||||||
| Helix | 46 – 48 | 3 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 51 – 67 | 17 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 71 – 76 | 6 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 84 – 87 | 4 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 89 – 110 | 22 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 115 – 134 | 20 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 138 – 148 | 11 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 151 – 154 | 4 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 157 – 161 | 5 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 165 – 177 | 13 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 181 – 192 | 12 | |||||||||||||||||||||||||||||||||||||||||
| Turn | 193 – 196 | 4 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 203 – 216 | 14 | |||||||||||||||||||||||||||||||||||||||||
| Beta strand | 219 – 221 | 3 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 223 – 245 | 23 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 256 – 263 | 8 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 269 – 271 | 3 | |||||||||||||||||||||||||||||||||||||||||
| Helix | 272 – 286 | 15 | |||||||||||||||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification and characterization of a new family of guanine nucleotide exchange factors for the ras-related GTPase Ral." Rebhun J.F., Chen H., Quilliam L.A. J. Biol. Chem. 275:13406-13410(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, INTERACTION WITH GRB2; NCK1; PLCG1; RALA AND SRC, TISSUE SPECIFICITY. Tissue: Small intestine. |
| [2] | "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [3] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7). |
| [4] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | 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]. |
| [6] | "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] (ISOFORMS 3; 4 AND 6). Tissue: Brain and Pancreas. |
| [7] | "RalGEF2, a pleckstrin homology domain containing guanine nucleotide exchange factor for Ral." de Bruyn K.M., de Rooij J., Wolthuis R.M., Rehmann H., Wesenbeek J., Cool R.H., Wittinghofer A.H., Bos J.L. J. Biol. Chem. 275:29761-29766(2000) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF LEU-148. |
| [8] | "Structural study of the Cdc25 domain from Ral-specific guanine-nucleotide exchange factor RalGPS1a." Peng W., Xu J., Guan X., Sun Y., Zhang X.C., Li X., Rao Z. Protein Cell 2:308-319(2011) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.24 ANGSTROMS) OF 23-289. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AF221098 mRNA. Translation: AAF65253.1. AB002349 mRNA. Translation: BAA20808.2. Different initiation. AK299149 mRNA. Translation: BAG61198.1. AL357623, AL160169, AL356862 Genomic DNA. Translation: CAH72699.1. AL357623 AL450263 Genomic DNA. Translation: CAH72700.1.AL357623 AL450263 Genomic DNA. Translation: CAH72701.1.AL357623, AL160169, AL356862 Genomic DNA. Translation: CAH72702.1. AL356862, AL160169, AL357623 Genomic DNA. Translation: CAI39718.1. AL356862 AL450263 Genomic DNA. Translation: CAI39719.1.AL356862 AL450263 Genomic DNA. Translation: CAI39720.1.AL356862, AL160169, AL357623 Genomic DNA. Translation: CAI39721.1. AL356862, AL160169 Genomic DNA. Translation: CAI39723.1. AL160169, AL356862, AL357623 Genomic DNA. Translation: CAI40638.1. AL160169 AL450263 Genomic DNA. Translation: CAI40639.1.AL160169 AL450263 Genomic DNA. Translation: CAI40640.1.AL160169, AL356862, AL357623 Genomic DNA. Translation: CAI40641.1. AL160169, AL356862 Genomic DNA. Translation: CAI40643.1. AL160169 Genomic DNA. Translation: CAI40644.1. AL450263 AL357623 Genomic DNA. Translation: CAI41460.1.AL450263 AL357623 Genomic DNA. Translation: CAI41461.1.CH471090 Genomic DNA. Translation: EAW87645.1. CH471090 Genomic DNA. Translation: EAW87646.1. CH471090 Genomic DNA. Translation: EAW87648.1. BC019329 mRNA. Translation: AAH19329.1. Different initiation. BC032372 mRNA. Translation: AAH32372.1. BC033708 mRNA. Translation: AAH33708.1. | ||||||||||||
| IPI | IPI00041588. IPI00103033. IPI00166762. IPI00329517. IPI00641854. IPI00644546. IPI00942454. | ||||||||||||
| RefSeq | NP_001177657.1. NM_001190728.1. NP_001177658.1. NM_001190729.1. NP_001177659.1. NM_001190730.1. NP_055451.1. NM_014636.2. | ||||||||||||
| UniGene | Hs.432842. Hs.606576. Hs.721343. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | Q5JS13. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q5JS13. 1 interaction. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q5JS13. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 189040074. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q5JS13. | ||||||||||||
| PRIDE | Q5JS13. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000259351; ENSP00000259351; ENSG00000136828. ENST00000373434; ENSP00000362533; ENSG00000136828. ENST00000373436; ENSP00000362535; ENSG00000136828. ENST00000373439; ENSP00000362538; ENSG00000136828. ENST00000394011; ENSP00000377579; ENSG00000136828. ENST00000394022; ENSP00000377590; ENSG00000136828. ENST00000424082; ENSP00000415630; ENSG00000136828. | ||||||||||||
| GeneID | 9649. | ||||||||||||
| KEGG | hsa:9649. | ||||||||||||
| UCSC | uc004bqo.2. human. uc004bqq.4. human. uc011mab.2. human. uc022bno.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 9649. | ||||||||||||
| GeneCards | GC09P129679. | ||||||||||||
| HGNC | HGNC:16851. RALGPS1. | ||||||||||||
| MIM | 614444. gene. | ||||||||||||
| neXtProt | NX_Q5JS13. | ||||||||||||
| PharmGKB | PA134907502. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | NOG275669. | ||||||||||||
| HOVERGEN | HBG059258. | ||||||||||||
| InParanoid | Q5JS13. | ||||||||||||
| OMA | SCNYDHL. | ||||||||||||
| OrthoDB | EOG41C6W1. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q5JS13. | ||||||||||||
| Bgee | Q5JS13. | ||||||||||||
| CleanEx | HS_RALGPS1. | ||||||||||||
| Genevestigator | Q5JS13. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 1.10.840.10. 1 hit. 2.30.29.30. 1 hit. | ||||||||||||
| InterPro | IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR008937. Ras_GEF. IPR023578. Ras_GEF_dom. IPR001895. RasGRF_CDC25. [Graphical view] | ||||||||||||
| PANTHER | PTHR23113. PTHR23113. 1 hit. | ||||||||||||
| Pfam | PF00169. PH. 1 hit. 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 | |||||||||||||
| GenomeRNAi | 9649. | ||||||||||||
| NextBio | 36221. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | RGPS1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5JS13 Secondary accession number(s): B4DR86 Q9NZ16 | ||||||||
| 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 9 Human chromosome 9: 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 |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
