Overview

Location [1]
17q25.3
Pathway
PI3K/AKT1/MTOR
Protein [2]
Regulatory-associated protein of mTOR
Synonyms [1]
KOG1, Mip1

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.

RPTOR is altered in 1.77% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, cutaneous melanoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

RPTOR GENIE Cases - Top Diseases

The most common alterations in RPTOR are RPTOR Mutation (1.37%), RPTOR Amplification (0.18%), RPTOR R404W (0.02%), RPTOR N1281S (0.01%), and RPTOR P95A (0.01%) [3].

RPTOR GENIE Cases - Top Alterations

Significance of RPTOR in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Melanoma +

Squamous Cell Lung Carcinoma +

Renal Cell Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Hepatocellular Carcinoma +

Endometrial Carcinoma +

Small Cell Lung Carcinoma +

Urothelial Carcinoma +

Glioblastoma +

Cancer +

Ovarian Carcinoma +

Prostate Carcinoma +

Pancreatic Carcinoma +

Aggressive Systemic Mastocytosis +

Chondrosarcoma +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

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 +

Pecoma +

Peritoneal Mesothelioma +

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

Thyroid Gland Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

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 6. 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.