Overview

Location [1]
12q13.3
Protein [2]
Zinc finger protein GLI1
Synonyms [1]
PPD1, GLI, PAPA8

GLI1 family zinc finger 1 (GLI1) is a gene that encodes a protein that functions as a transcription factor protein. The protein is activated by the sonic hedgehog signal transduction pathway. The protein also plays a role in the regulation of stem cell proliferation. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

GLI1 is altered in 3.19% of all cancers with lung adenocarcinoma, colon adenocarcinoma, conventional glioblastoma multiforme, endometrial endometrioid adenocarcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

GLI1 GENIE Cases - Top Diseases

The most common alterations in GLI1 are GLI1 Mutation (2.12%), GLI1 Amplification (0.75%), GLI1 Loss (0.04%), GLI1 R314C (0.03%), and GLI1 Fusion (0.07%) [3].

GLI1 GENIE Cases - Top Alterations

Significance of GLI1 in Diseases

Esophageal Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gastric Adenocarcinoma +

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.