InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KRAS

Summary

InnateDB Protein

IDBP-23893.7

Last Modified

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

Gene Symbol

KRAS

Protein Name

v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog

Synonyms

C-K-RAS; CFC2; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; KI-RAS; KRAS1; KRAS2; NS; NS3; RASK2;

Species

Homo sapiens

Ensembl Protein

ENSP00000308495

InnateDB Gene

IDBG-23889 (KRAS)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Cell membrane; Lipid-anchor; Cytoplasmic side.

Disease Associations

Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269PubMed:8955068}. Note=The disease is caused by mutations affecting the gene represented in this entry.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 3 (NS3) [MIM:609942]: 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:16474405, ECO:0000269PubMed:16773572, ECO:0000269PubMed:17056636, ECO:0000269PubMed:17468812, ECO:0000269PubMed:19396835}. Note=The disease is caused by mutations affecting the gene represented in this entry.Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. {ECO:0000269PubMed:14534542, ECO:0000269PubMed:3034404, ECO:0000269PubMed:7773929}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in KRAS are a cause of pylocytic astrocytoma (PA). Pylocytic astrocytomas are neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors.Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1. {ECO:0000269PubMed:16474404, ECO:0000269PubMed:16474405, ECO:0000269PubMed:17056636, ECO:0000269PubMed:21797849}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=KRAS mutations are involved in cancer development.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 61 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	61 [view]
Protein-Protein	55 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	3 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [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:0001934	positive regulation of protein phosphorylation
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:0008286	insulin receptor signaling pathway
GO:0008543	fibroblast growth factor receptor signaling pathway
GO:0010628	positive regulation of gene expression
GO:0015031	protein transport
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0045087	innate immune response
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0050900	leukocyte migration

Cellular Component

GO:0005622	intracellular
GO:0005886	plasma membrane
GO:0016020	membrane

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