GeneID: 72
Names
Common Name: | JAZF1 | Type: | Gene |
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Chromosome: | 7 (NC_000007.14) | Locus: | NG_011499.1 (JAZF1) |
HUGO Symbol: | JAZF1 | Full Name: | JAZF zinc finger 1 |
Exons: | 5 | Introns: | 4 |
Description:
The JAZF1 gene encodes a nuclear protein containing three putative C2H2-type zinc finger motifs. It is best characterized for its transcriptional repressive effects on NR2C2 (TR4), an orphan nuclear receptor of the steroid receptor family whose target genes play important roles in growth, development and metabolism. NR2C2 is also a candidate modifier of fetal γ-globin gene expression [GeneID: 344]. Genetic variation in the JAZF1 gene was associated with high HbF levels in sickle cell disease patients, indicating a role for JAZF1 in haemoglobin production during adult erythropoiesis. Functional studies revealed higher JAZF1 expression levels in adult erythroid cells compared to fetal liver cells, as well as an upregulation of fetal and embryonic globin chains in JAZF1 knockdown erythroid cells. The downregulation of JAZF1 did not affect the expression levels of major repressors of HBG including BCL11A and LRF, or other transcription factors of the DRED complex, suggesting an independent mechanism of globin regulation. JAZF1 was suggested to be a chromatin modulator that recruits components of the histone H2A.Z chaperone complex in regulatory regions to control gene expression, including the β-globin locus (LCRB) [GeneID: 5]. 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
Comments:
N/A
Number of entries/variants: 1
IthaScore
Sequence Viewer
Publications / Origin
- 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
- 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
- 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
- Wongborisuth C, Chumchuen S, Sripichai O, Anurathaphan U, Sathirapongsasuti N, Songdej D, Tangprasittipap A, Hongeng S, Down-regulation of the transcriptional repressor ZNF802 (JAZF1) reactivates fetal hemoglobin in β-thalassemia/HbE., Sci Rep, 12(1), 4952, 2022 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2016-04-26 14:19:53 | The IthaGenes Curation Team | Created |
2 | 2016-04-26 14:21:57 | The IthaGenes Curation Team | Reviewed. |
3 | 2022-11-30 16:40:09 | The IthaGenes Curation Team | Reviewed. Reference added, Text edited. |
4 | 2022-11-30 16:54:41 | The IthaGenes Curation Team | Reviewed. Text edits. |