Overview

Location [1]
Xp11.23
Protein [2]
Erythroid transcription factor
Synonyms [1]
XLANP, ERYF1, XLTT, XLTDA, NFE1, NF-E1, GF1, GF-1, GATA-1

GATA binding protein 1 (GATA1) is a gene that encodes a transcription factor protein that is a member of the GATA family. The protein functions in regulating the change in fetal hemoglobin to adult hemoglobin. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame insertions and deletions are observed in cancers such as endometrial cancer, hematopoietic and lymphoid cancers, and intestinal cancer

GATA1 is altered in 0.86% of all cancers with lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, high grade ovarian serous adenocarcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

GATA1 GENIE Cases - Top Diseases

The most common alterations in GATA1 are GATA1 Mutation (0.46%), GATA1 Amplification (0.11%), GATA1 Loss (0.10%), GATA1 R270W (0.01%), and GATA1 P358Qfs*74 (0.01%) [3].

GATA1 GENIE Cases - Top Alterations

Significance of GATA1 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myeloid Neoplasm +

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.