GeneID: 72


Common Name: JAZF1 Type: Gene
Chromosome: 7 (NC_000007.14) Locus: NG_011499.1 (JAZF1)
HUGO Symbol: JAZF1 Full Name: JAZF zinc finger 1
Exons: 5 Introns: 4

The JAZF1 gene encodes a nuclear protein containing three putative C2H2-type zinc finger motifs. It is best characterized for its transcriptional repressive effect on NR2C2 expression, an orphan nuclear receptor of the steroid receptor family whose target genes play important roles in growth, development and metabolism. It is expressed in several tissues, including testis, placenta, prostate and colon. It plays a role in glucose homeostasis and has been associated with the development of type 2 diabetes. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Genetic variance in JAZF1 gene associated with HbF levels in sickle cell patients. Functional studies showed higher levels of JAZF1 expression in adult erythroid cells that those derived from fetal liver, as well as upregulation of fetal and embryonic globin chains in JAZF1 knockdown erythroid cells in β-thalassemia/HbE. These findings suggest a role for JAZF1 as a transcriptional repressor of γ-globin gene in human adult erythroid cells (61st ASH 2019, Abstract #3546).

Synonyms: TIP27 , ZNF802


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Publications / Origin

  1. Nakajima T, Fujino S, Nakanishi G, Kim YS, Jetten AM, TIP27: a novel repressor of the nuclear orphan receptor TAK1/TR4., Nucleic Acids Res. , 32(14), 4194-204, 2004 PubMed
  2. Yuan L, Luo X, Zeng M, Zhang Y, Yang M, Zhang L, Liu R, Boden G, Liu H, Ma ZA, Li L, Yang G, Transcription factor TIP27 regulates glucose homeostasis and insulin sensitivity in a PI3-kinase/Akt-dependent manner in mice., Int J Obes (Lond) , 39(6), 949-58, 2015 PubMed
  3. Liu L, Pertsemlidis A, Ding LH, Story MD, Steinberg MH, Sebastiani P, Hoppe C, Ballas SK, Pace BS, A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease., Exp. Biol. Med. (Maywood) , 2016 PubMed
Created on 2016-04-26 14:19:53, Last reviewed on 2016-04-26 14:21:57 (Show full history)

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