MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP002130

UniProt Annotations

Entry Information
Gene Nameneuroblastoma RAS viral (v-ras) oncogene homolog
Protein EntryRASN_HUMAN
UniProt IDP01111
SpeciesHuman
Comments
Comment typeDescription
DiseaseKeratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]: Epidermal nevi of the common, non-organoid and non- epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood. {ECO:0000269|PubMed:22499344}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseLeukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMelanocytic nevus syndrome, congenital (CMNS) [MIM:137550]: A syndrome characterized by congenital pigmentary skin lesions which can occur at any site and can cover most of the body surface. These lesions may or may not be hairy. Congenital melanocytic nevi are associated with neuromelanosis (the presence of melanin-producing cells within the brain parenchyma or leptomeninges). Less commonly they are associated with malignant melanoma in childhood, both in the skin and the central nervous system. CMNS patients also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip. {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:23392294}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMelanosis, neurocutaneous (NCMS) [MIM:249400]: A rare congenital disease characterized by the presence of giant or multiple melanocytic nevi on the skin, foci of melanin-producing cells within the brain parenchyma, and infiltration of leptomeninges by abnormal melanin deposits. Neurologic abnormalities include seizures, hydrocephalus, arachnoid cysts, tumors, and syringomyelia. Some patients may develop malignant melanoma. {ECO:0000269|PubMed:23392294}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNoonan syndrome 6 (NS6) [MIM:613224]: 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:19966803}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseRAS-associated autoimmune leukoproliferative disorder (RALD) [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. {ECO:0000269|PubMed:17517660}. 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. Activated by a guanine nucleotide-exchange factor (GEF) and inactivated by a GTPase- activating protein (GAP).
FunctionRas proteins bind GDP/GTP and possess intrinsic GTPase activity.
MiscellaneousMutations which change AA 12, 13 or 61 activate the potential of Ras to transform cultured cells and are implicated in a variety of human tumors.
PtmAcetylation at Lys-104 prevents interaction with guanine nucleotide exchange factors (GEFs). {ECO:0000250}.
PtmPalmitoylated by the ZDHHC9-GOLGA7 complex. A continuous cycle of de- and re-palmitoylation regulates rapid exchange between plasma membrane and Golgi. {ECO:0000269|PubMed:15705808, ECO:0000269|PubMed:16000296, ECO:0000269|PubMed:2661017}.
SimilarityBelongs to the small GTPase superfamily. Ras family. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:15705808}; Lipid-anchor {ECO:0000269|PubMed:15705808}; Cytoplasmic side {ECO:0000269|PubMed:15705808}. Golgi apparatus membrane {ECO:0000269|PubMed:15705808}; Lipid-anchor {ECO:0000269|PubMed:15705808}. Note=Shuttles between the plasma membrane and the Golgi apparatus.
SubunitInteracts (active GTP-bound form preferentially) with RGS14 (By similarity). Interacts (active GTP-bound form) with RASSF7. {ECO:0000250, ECO:0000269|PubMed:21278800}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NRASID92.html";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/nras/";
Web ResourceName=NRASbase; Note=NRAS mutation db; URL="http://structure.bmc.lu.se/idbase/NRASbase/";
Web ResourceName=Wikipedia; Note=RAS proteins entry; URL="http://en.wikipedia.org/wiki/RAS_proteins";
  logo