2024年12月25日 · GATA1 (GATA Binding Protein 1) is a Protein Coding gene. Diseases associated with GATA1 include Thrombocytopenia With Beta-Thalassemia, X-Linked and Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities .

The human GATA1 gene is located on the short (i.e. "p") arm of the X chromosome at position 11.23. It is 7.74 kilobases in length, consists of 6 exons, and codes for a full-length protein, GATA1, of 414 amino acids as well as a shorter one, GATA1-S. GATA1-S lacks the first 83 amino acids of GATA1 and therefore consists of only 331 amino acids. [13] [14] [15] GATA1 codes for two zinc finger ...

该蛋白通过调节胎儿血红蛋白向成人血红蛋白的转换，在红细胞发育中发挥重要作用。 该基因的突变与 X 连锁红细胞生成异常性贫血和血小板减少症有关。 [RefSeq 提供，2008 年 7 月] This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of …

GATA1, also known as NF-E1, NF-1, Ery-1 and GF-1, is the founding member of the GATA family of transcription factors. It was first identified as a protein with binding specificity to the β -globin 3′ enhancer (117) and cloned from a mouse erythroleukemia cell line cDNA expression library (105) and from chicken red cells (21).

GATA1 is an essential downstream target of SENP1 and that the differential expression and response of GATA1 and Bcl-xL are a key mechanism underlying chronic mountain sickness pathology. we herein show a long-distance regulatory region with GATA1 binding sites as being a strong enhancer for NBEAL2 expression.

The GATA1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. Learn about this gene and related health conditions.

2017年4月13日 · GATA1 mutations commonly occur in utero as early as week 21 of gestation in hematopoietic progenitors with trisomy 21. The resulting TMD is initially polyclonal, with multiple distinct GATA1-mutant clones. The GATA1 mutational burden …

GATA1 is a prototypical lineage-restricted transcription factor that is central to the correct differentiation, proliferation and apoptosis of erythroid and megakaryocytic cells.

2025年1月4日 · Title: Multidimensional profiling reveals GATA1-modulated stage-specific chromatin states and functional associations during human erythropoiesis. Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors.

GATA1 is known to be essential for hematopoiesis, megakaryocyte and platelet development. In mouse, Gata1 is a downstream target of NKX2-5 and is negatively regulated by the cardiogenic TF, hence hinting for a role of GATA1 in heart development (Caprioli et al., 2011).