JAZF1 (JAZF zinc finger 1)
2009-04-01 Hui Li , Jeffrey Sklar AffiliationUniversity of Virginia Medical School, Charlottesville, VA 22908, USA (HL), Department of Pathology, Yale University, New haven, CT, USA (JS)
Identity
HGNC
LOCATION
7p15.2
IMAGE
LEGEND
Metaphase FISH using as probe YAC908B12, which encompasses the entire JAZF1 at 7p15.2.
LOCUSID
ALIAS
TIP27,ZNF802
FUSION GENES
DNA/RNA
Description
5 exons; spans 350kb.
Transcription
Major transcript: 2,980bp; coding sequence: 52-783.
Proteins
Description
243 amino acids.
Expression
Expressed in all the tissues tested with variable level. The tissues or organs that express JAZF1 include cerebellum, lung, thymus, liver, kidney, stomach/esophagus, skeleton muscle, skin and eye.
Localisation
Mostly nucleus.
Function
JAZF1 has three C2H2-type zinc fingers. It is mostly detected within the nucleus, with lesser amounts found in the cytoplasm. JAZF1 copurifies with chromatin, and presumably has DNA-binding properties. It has been reported to interact with TAK1 and function as a transcriptional repressor of the TAK1 gene.
SNPs in intron 1 of JAZF1 has been reported to be associated with type 2 diabetes and body height.
SNPs in intron 2 of JAZF1 have been reported to be associate with reduced prevalence of prostate cancer. Chimeric JAZF1-JJAZ1 protein (amino acid sequence of the first three exons of JAZF1 joined to sequence of the last 15 exons of JJAZ1) resulting from trans-splicing of precursor mRNAs and identical to a product generated from the JAZF1-JJAZ1 gene fusion in endometrial tumors has been found in normal endometrium.
SNPs in intron 1 of JAZF1 has been reported to be associated with type 2 diabetes and body height.
SNPs in intron 2 of JAZF1 have been reported to be associate with reduced prevalence of prostate cancer. Chimeric JAZF1-JJAZ1 protein (amino acid sequence of the first three exons of JAZF1 joined to sequence of the last 15 exons of JJAZ1) resulting from trans-splicing of precursor mRNAs and identical to a product generated from the JAZF1-JJAZ1 gene fusion in endometrial tumors has been found in normal endometrium.
Homology
Unkown.
Mutations
Somatic
JAZF1 has been identified at the breakpoints of a recurrent chromosomal translocation, the t(7;17)(p15;q21), in endometrial stromal tumors (benign nodules and sarcomas). The translocation leads to a JAZF1-JJAZ1 fusion gene. This gene fusion is detected in about 50% of endometrial stromal sarcomas and most endometrial stromal nodules.
Another common chromosomal translocation in endometrial stroma sarcomas, the t(6;7)(p21;p15), results in a JAZF1-PHF1 fusion. About 25-30% of endometrial stromal sarcomas are reported to contain this fusion. The sites of fusion within JAZF1 RNA to JJAZ1 and PHF1 RNA sequence are the same.
Both JJAZ1(also called SUZ12) and PHF1 belong to the Polycomb group (PcG) gene family.
Another common chromosomal translocation in endometrial stroma sarcomas, the t(6;7)(p21;p15), results in a JAZF1-PHF1 fusion. About 25-30% of endometrial stromal sarcomas are reported to contain this fusion. The sites of fusion within JAZF1 RNA to JJAZ1 and PHF1 RNA sequence are the same.
Both JJAZ1(also called SUZ12) and PHF1 belong to the Polycomb group (PcG) gene family.
Implicated in
Entity name
t(7;17)(p15;q21) / endometrial stromal nodule and endometrial sarcoma
Disease
Endometrial stroma nodule and sarcoma.
Cytogenetics
t(7;17)(p15;q21)
Hybrid gene
JAZF1-JJAZ1
Fusion protein
JAZF1-JJAZ1
Oncogenesis
The fusion protein protects cells from hypoxia-induced apoptosis, and also promotes proliferation when the wild-type allele of JJAZ1 is silenced (as it is in endometrial stromal sarcomas carrying the t(7;17)(p15;q21)).
Entity name
t(6;7)(p21;p15)/ endometrial stroma sarcoma
Disease
Endometrial stroma sarcoma.
Cytogenetics
t(6;7)(p21;p15)
Hybrid gene
JAZF1-PHF1
Fusion protein
JAZF1-PHF1
Oncogenesis
The function of the JAZF1-PHF1 fusion is not currently known.
Entity name
Prostate carcinoma
Oncogenesis
A SNIP in intron 2 of JAZF1 is associated with a somewhat decreased risk of prostate cancer, especially cancers that have been classified as being less aggressive. The mechanism by which polymorphisms alter the susceptibility toward prostate cancer is not currently known.
Breakpoints
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 18696045 | 2008 | A genetic link between type 2 diabetes and prostate cancer. | Frayling TM et al |
| 18952825 | 2009 | Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. | Johansson A et al |
| 11371647 | 2001 | Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. | Koontz JI et al |
| 18077430 | 2007 | Effects of rearrangement and allelic exclusion of JJAZ1/SUZ12 on cell proliferation and survival. | Li H et al |
| 18772439 | 2008 | A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells. | Li H et al |
| 16397222 | 2006 | Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma. | Micci F et al |
| 17197920 | 2007 | Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms. | Nucci MR et al |
| 18264096 | 2008 | Multiple loci identified in a genome-wide association study of prostate cancer. | Thomas G et al |
| 19318432 | 2009 | Generalizability of associations from prostate cancer genome-wide association studies in multiple populations. | Waters KM et al |
| 18372903 | 2008 | Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. | Zeggini E et al |
Other Information
Locus ID:
NCBI: 221895
MIM: 606246
HGNC: 28917
Ensembl: ENSG00000153814
Variants:
dbSNP: 221895
ClinVar: 221895
TCGA: ENSG00000153814
COSMIC: JAZF1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36166196 | 2023 | JAZF1: A Metabolic Regulator of Sensitivity to a Polyamine-Targeted Therapy. | 0 |
| 36166196 | 2023 | JAZF1: A Metabolic Regulator of Sensitivity to a Polyamine-Targeted Therapy. | 0 |
| 35322124 | 2022 | Down-regulation of the transcriptional repressor ZNF802 (JAZF1) reactivates fetal hemoglobin in β(0)-thalassemia/HbE. | 3 |
| 35649353 | 2022 | JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation. | 6 |
| 35846288 | 2022 | Rs864745 in JAZF1, an Islet Function Associated Variant, Correlates With Plasma Lipid Levels in Both Type 1 and Type 2 Diabetes Status, but Not Healthy Subjects. | 1 |
| 35322124 | 2022 | Down-regulation of the transcriptional repressor ZNF802 (JAZF1) reactivates fetal hemoglobin in β(0)-thalassemia/HbE. | 3 |
| 35649353 | 2022 | JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation. | 6 |
| 35846288 | 2022 | Rs864745 in JAZF1, an Islet Function Associated Variant, Correlates With Plasma Lipid Levels in Both Type 1 and Type 2 Diabetes Status, but Not Healthy Subjects. | 1 |
| 33722242 | 2021 | Correlation analysis of epicardial adipose tissue thickness, C-reactive protein, interleukin-6, visfatin, juxtaposed with another zinc finger protein 1, and type 2 diabetic macroangiopathy. | 4 |
| 34928964 | 2021 | RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells. | 3 |
| 33722242 | 2021 | Correlation analysis of epicardial adipose tissue thickness, C-reactive protein, interleukin-6, visfatin, juxtaposed with another zinc finger protein 1, and type 2 diabetic macroangiopathy. | 4 |
| 34928964 | 2021 | RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells. | 3 |
| 32640216 | 2020 | The Diabetes Gene JAZF1 Is Essential for the Homeostatic Control of Ribosome Biogenesis and Function in Metabolic Stress. | 23 |
| 32856873 | 2020 | TFAP2B, AP-1 and JAZF1 Expression in Tissues of Papillary Thyroid Carcinoma Patients; Clinical, Pathological and Prognostic Values. | 1 |
| 33008771 | 2020 | The relationship between chimeric RNAs and gene fusions: Potential implications of reciprocity in cancer. | 0 |
Citation
Hui Li ; Jeffrey Sklar
JAZF1 (JAZF zinc finger 1)
Atlas Genet Cytogenet Oncol Haematol. 2009-04-01
Online version: http://atlasgeneticsoncology.org/gene/41036/jazf1
