We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins RAS pathway related proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
p22.1
Chromosome location (bp)
38962206 - 39124345
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Promotes the exchange of Ras-bound GDP by GTP 1. Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 in response to EGF 2. Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Guanine-nucleotide releasing factor
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
G5E9C8 [Direct mapping] Son of sevenless homolog 1; Son of sevenless homolog 1 (Drosophila), isoform CRA_d
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Congenital malformations Other congenital malformations Digestive system diseases Mouth and dental diseases Protein evidence (Ezkurdia et al 2014)
Q07889 [Direct mapping] Son of sevenless homolog 1
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes Disease related genes Human disease related genes Congenital malformations Other congenital malformations Digestive system diseases Mouth and dental diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001782[B cell homeostasis] GO:0001942[hair follicle development] GO:0002260[lymphocyte homeostasis] GO:0002931[response to ischemia] GO:0003007[heart morphogenesis] GO:0003209[cardiac atrium morphogenesis] GO:0003344[pericardium morphogenesis] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005096[GTPase activator activity] GO:0005154[epidermal growth factor receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007165[signal transduction] GO:0007173[epidermal growth factor receptor signaling pathway] GO:0007264[small GTPase mediated signal transduction] GO:0007265[Ras protein signal transduction] GO:0007296[vitellogenesis] GO:0007411[axon guidance] GO:0008286[insulin receptor signaling pathway] GO:0008543[fibroblast growth factor receptor signaling pathway] GO:0014069[postsynaptic density] GO:0017124[SH3 domain binding] GO:0019221[cytokine-mediated signaling pathway] GO:0033081[regulation of T cell differentiation in thymus] GO:0035264[multicellular organism growth] GO:0038095[Fc-epsilon receptor signaling pathway] GO:0042127[regulation of cell population proliferation] GO:0042129[regulation of T cell proliferation] GO:0043025[neuronal cell body] GO:0043405[regulation of MAP kinase activity] GO:0043539[protein serine/threonine kinase activator activity] GO:0043547[positive regulation of GTPase activity] GO:0045742[positive regulation of epidermal growth factor receptor signaling pathway] GO:0046982[protein heterodimerization activity] GO:0048009[insulin-like growth factor receptor signaling pathway] GO:0048011[neurotrophin TRK receptor signaling pathway] GO:0048514[blood vessel morphogenesis] GO:0050853[B cell receptor signaling pathway] GO:0050900[leukocyte migration] GO:0051057[positive regulation of small GTPase mediated signal transduction] GO:0060021[roof of mouth development] GO:0061029[eyelid development in camera-type eye] GO:0061384[heart trabecula morphogenesis] GO:1904693[midbrain morphogenesis] GO:1905360[GTPase complex] GO:2000973[regulation of pro-B cell differentiation]
C9K0N6 [Direct mapping] Son of sevenless homolog 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Congenital malformations Other congenital malformations Digestive system diseases Mouth and dental diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5KY52 [Direct mapping] Son of sevenless homolog 1
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Congenital malformations Other congenital malformations Digestive system diseases Mouth and dental diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0007264[small GTPase mediated signal transduction]
A0A8I5KWL0 [Direct mapping] Son of sevenless homolog 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Congenital malformations Other congenital malformations Digestive system diseases Mouth and dental diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5QJ77 [Direct mapping] Son of sevenless homolog 1
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Congenital malformations Other congenital malformations Digestive system diseases Mouth and dental diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5QJD1 [Direct mapping] Son of sevenless homolog 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes Human disease related genes Congenital malformations Other congenital malformations Digestive system diseases Mouth and dental diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0007264[small GTPase mediated signal transduction]