Overview

Location [1]
1q21.2
Protein [2]
Gamma-secretase subunit APH-1A
Synonyms [1]
CGI-78, 6530402N02Rik, APH-1, APH-1A

APH1A gamma secretase subunit (APH1A) is a gene that encodes a seven-transmembrane-domain protein with an unknown function. The protein is a member of the gamma secretase complex. The complex cleaves membrane proteins such as beta-amyloid precursor proteins and Notch receptors. Missense mutations, silent mutations, and frameshift insertions are observed in cancers such as bone cancer, lung cancer, and skin cancer.

APH1A is altered in 0.37% of all cancers with colon adenocarcinoma, non-small cell lung carcinoma, osteoblastic osteosarcoma, and uterine corpus leiomyosarcoma having the greatest prevalence of alterations [3].

APH1A GENIE Cases - Top Diseases

The most common alterations in APH1A are APH1A Mutation (0.25%), APH1A Amplification (1.42%), APH1A F54Y (0.08%), APH1A R247Q (0.08%), and APH1A Y90H (0.08%) [3].

APH1A GENIE Cases - Top Alterations

Significance of APH1A in Diseases

Breast Carcinoma +

Colon Carcinoma +

Malignant Solid Tumor +

Soft Tissue Sarcoma +

Cholangiocarcinoma +

Lymphoma +

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.