Overview

Location [1]
Xp11.22
Protein [2]
Structural maintenance of chromosomes protein 1A
Synonyms [1]
SMC1L1, SMCB, CDLS2, SB1.8, SMC1alpha, SMC1, DXS423E

Structural maintenance of chromosomes 1A (SMC1A) is a gene that encodes a protein that functions as an integral component of functional kinetochores. The protein is also suspected to play a role in DNA repair. Missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

SMC1A is altered in 1.34% of all cancers with lung adenocarcinoma, endometrial endometrioid adenocarcinoma, bladder urothelial carcinoma, colon adenocarcinoma, and conventional glioblastoma multiforme having the greatest prevalence of alterations [3].

SMC1A GENIE Cases - Top Diseases

The most common alterations in SMC1A are SMC1A Mutation (0.43%), SMC1A R711W (0.01%), SMC1A R96H (0.01%), SMC1A R295W (0.01%), and SMC1A A199T (0.00%) [3].

SMC1A GENIE Cases - Top Alterations

Significance of SMC1A in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

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.