5 exons; spans 350kb.

Major transcript: 2,980bp; coding sequence: 52-783.

243 amino acids.

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.

Mostly nucleus.

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.

Unkown.

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.