Overview

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

RPTOR is altered in 2.21% of all cancers with non-small cell lung carcinoma, colorectal adenocarcinoma, melanoma, breast carcinoma, and uterine corpus neoplasm having the greatest prevalence of alterations [3].

RPTOR GENIE Cases - Top Diseases

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

RPTOR GENIE Cases - Top Alterations

Significance of RPTOR in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Non-Hodgkin Lymphoma +

Endometrial Carcinoma +

Squamous Cell Lung Carcinoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

Glioblastoma +

Colorectal Carcinoma +

Prostate Carcinoma +

Gastric Adenocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Renal Cell Carcinoma +

Pancreatic Carcinoma +

Cancer +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Ovarian Carcinoma +

Peritoneal Mesothelioma +

Thyroid Gland Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.