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MGP002630

UniProt Annotations

Entry Information
Gene NameRas-like without CAAX 1
Protein EntryRIT1_HUMAN
UniProt IDQ92963
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q92963-1; Sequence=Displayed; Name=2; IsoId=Q92963-2; Sequence=VSP_045306; Name=3; IsoId=Q92963-3; Sequence=VSP_047114; Note=No experimental confirmation available.;
DiseaseNoonan syndrome 8 (NS8) [MIM:615355]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:23791108}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationAlternates between an inactive form bound to GDP and an active form bound to GTP.
FunctionPlays a crucial role in coupling NGF stimulation to the activation of both EPHB2 and MAPK14 signaling pathways and in NGF- dependent neuronal differentiation. Involved in ELK1 transactivation through the Ras-MAPK signaling cascade that mediates a wide variety of cellular functions, including cell proliferation, survival, and differentiation. {ECO:0000269|PubMed:15632082, ECO:0000269|PubMed:23791108}.
InteractionQ13129:RLF; NbExp=3; IntAct=EBI-365845, EBI-958266;
MiscellaneousShows rapid uncatalyzed guanine nucleotide dissociation rates, which are much faster than those of most Ras subfamily members.
MiscellaneousStimulation of the NGF and EGF receptor signaling pathways results in rapid and prolonged activation.
SimilarityBelongs to the small GTPase superfamily. Ras family. {ECO:0000305}.
Subcellular LocationCell membrane.
SubunitInteracts with MLLT4, the C-terminal domain of RALGDS and RLF, but not with RIN1 and PIK3CA. RLF binds exclusively to the active GTP-bound form. Strongly interacts with BRAF, but only weakly with RAF1. BARF and RAF1 association is dependent upon the GTP-bound state. Interacts with RGL3 (By similarity). {ECO:0000250}.
Tissue SpecificityExpressed in many tissues.
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