Overview

Location [1]
17q25.3
Pathway
PI3K/AKT1/MTOR
Synonyms [1]
Mip1, KOG1

Regulatory associated protein of MTOR, complex 1 (RPTOR) is a gene that encodes a protein that functions in a cell signaling pathway that responds to nutrient and insulin levels to regulate cell growth. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

Significance of RPTOR in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Non-Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Hepatocellular Carcinoma +

Melanoma +

Renal Cell Carcinoma +

Squamous Cell Lung Carcinoma +

Aggressive Systemic Mastocytosis +

Cancer +

Chondrosarcoma +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Endometrial Carcinoma +

Ewing Sarcoma +

Gastric Adenocarcinoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Liposarcoma +

Mast Cell Leukemia +

Myelodysplastic Syndromes +

Myeloid Neoplasm +

Osteosarcoma +

Ovarian Carcinoma +

Pecoma +

Pancreatic Carcinoma +

Peritoneal Mesothelioma +

Prostate Carcinoma +

Small Cell Lung Carcinoma +

Systemic Mastocytosis With An Associated Hematological Neoplasm (SM-AHN) +

Thyroid Gland Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Urothelial Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.