Overview

Location [1]
11p15.4
Protein [2]
Ribonucleoside-diphosphate reductase large subunit
Synonyms [1]
RIR1, RR1, R1

Ribonucleotide reductase M1 (RRM1) is a gene that encodes a subunit of ribonucleoside-diphosphate reductase, an enzyme essential for the production of deoxyribonucleotides prior to DNA synthesis in S phase of dividing cells. Missense mutations, silent mutations, nonsense mutations, and inframe deletions are observed in cancers such as colon cancer, skin cancer, and esophageal cancer.

RRM1 is altered in 0.59% of all cancers with colon adenocarcinoma, high grade ovarian serous adenocarcinoma, bladder urothelial carcinoma, colorectal mucinous adenocarcinoma, and glioblastoma having the greatest prevalence of alterations [3].

RRM1 GENIE Cases - Top Diseases

The most common alterations in RRM1 are RRM1 A386T (0.85%), RRM1 A524T (0.22%), RRM1 D675Y (0.22%), RRM1 D785E (0.39%), and RRM1 L477V (0.85%) [3].

RRM1 GENIE Cases - Top Alterations

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.