InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NRAS

Summary

InnateDB Protein

IDBP-101306.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NRAS

Protein Name

neuroblastoma RAS viral (v-ras) oncogene homolog

Synonyms

ALPS4; CMNS; N-ras; NCMS; NRAS1; NS6;

Species

Homo sapiens

Ensembl Protein

ENSP00000358548

InnateDB Gene

IDBG-243969 (NRAS)

Protein Structure

UniProt Annotation

Function

Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:15705808}; Lipid-anchor {ECO:0000269PubMed:15705808}; Cytoplasmic side {ECO:0000269PubMed:15705808}. Golgi apparatus membrane {ECO:0000269PubMed:15705808}; Lipid-anchor {ECO:0000269PubMed:15705808}. Note=Shuttles between the plasma membrane and the Golgi apparatus.

Disease Associations

Leukemia, 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.Noonan 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:0000269PubMed:19966803}. Note=The disease is caused by mutations affecting the gene represented in this entry.Autoimmune lymphoproliferative syndrome 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. {ECO:0000269PubMed:17517660}. Note=The disease is caused by mutations affecting the gene represented in this entry.Melanocytic 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:0000269PubMed:18633438, ECO:0000269PubMed:23392294}. Note=The disease is caused by mutations affecting the gene represented in this entry.Melanosis, 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:0000269PubMed:23392294}. Note=The disease is caused by mutations affecting the gene represented in this entry.Keratinocytic 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:0000269PubMed:22499344}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	33 [view]
Protein-Protein	29 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0005515	protein binding
GO:0005525	GTP binding
GO:0032403	protein complex binding

Biological Process

GO:0000165	MAPK cascade
GO:0000186	activation of MAPKK activity
GO:0006184	GTP catabolic process
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:0007411	axon guidance
GO:0007596	blood coagulation
GO:0008284	positive regulation of cell proliferation
GO:0008286	insulin receptor signaling pathway
GO:0008542	visual learning
GO:0008543	fibroblast growth factor receptor signaling pathway
GO:0015031	protein transport
GO:0030036	actin cytoskeleton organization
GO:0032228	regulation of synaptic transmission, GABAergic
GO:0035022	positive regulation of Rac protein signal transduction
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0043524	negative regulation of neuron apoptotic process
GO:0045087	innate immune response (InnateDB)
GO:0045596	negative regulation of cell differentiation
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0048169	regulation of long-term neuronal synaptic plasticity
GO:0048642	negative regulation of skeletal muscle tissue development
GO:0050900	leukocyte migration
GO:0051146	striated muscle cell differentiation
GO:0060441	epithelial tube branching involved in lung morphogenesis

Cellular Component

GO:0000139	Golgi membrane
GO:0005622	intracellular
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000795 Elongation factor, GTP-binding domain
IPR001806 Small GTPase superfamily
IPR003578 Small GTPase superfamily, Rho type
IPR003579 Small GTPase superfamily, Rab type
IPR005225 Small GTP-binding protein domain
IPR006689 Small GTPase superfamily, ARF/SAR type
IPR013684 Mitochondrial Rho-like
IPR020849 Small GTPase superfamily, Ras type
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00009
PF00071
PF00025
PF08477

PRINTS

PR00315
PR00449
PR00328

PIRSF

SMART

SM00174
SM00175
SM00173

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt