3con
Crystal structure of the human NRAS GTPase bound with GDPCrystal structure of the human NRAS GTPase bound with GDP
Structural highlights
Disease[RASN_HUMAN] Defects in NRAS are a cause of juvenile myelomonocytic leukemia (JMML) [MIM:607785]. JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. Defects in NRAS are the cause of Noonan syndrome type 6 (NS6) [MIM:613224]. A syndrome characterized by facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears. Other features can include short stature, a short neck with webbing or redundancy of skin, cardiac anomalies, deafness, motor delay and variable intellectual deficits.[1] Defects in NRAS are the cause of autoimmune lymphoproliferative syndrome type 4 (ALPS4) [MIM:614470]. A disorder of apoptosis, characterized by chronic accumulation of non-malignant lymphocytes, defective lymphocyte apoptosis, and an increased risk for the development of hematologic malignancies.[2] Function[RASN_HUMAN] Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Evolutionary Conservation![]() Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
|
|
Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)
OCA- Human
- Large Structures
- Arrowsmith, C H
- Bochkarev, A
- Bountra, C
- Edwards, A M
- Loppnau, P
- Nedyalkova, L
- Park, H
- Structural genomic
- Shen, L
- Tempel, W
- Tong, Y
- Weigelt, J
- Disease mutation
- Gdp
- Golgi apparatus
- Gtp-binding
- Gtpase
- Hydrolase
- Lipoprotein
- Membrane
- Methylation
- Nucleotide-binding
- Oncogene
- Palmitate
- Prenylation
- Proto-oncogene
- Sgc