JAZF1

JAZF1
Identifiers
Aliases	JAZF1, TIP27, ZNF802, JAZF zinc finger 1
External IDs	OMIM: 606246; MGI: 2141450; GeneCards: JAZF1
Gene location (Human) Chr. Chromosome 7 (human) Band 7p15.2-p15.1 Start 27,830,573 bp End 28,180,795 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 B3|6 25.74 cM Start 52,745,782 bp End 53,045,616 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in trabecular bone tail of epididymis right adrenal cortex left adrenal cortex urethra endometrium oocyte decidua secondary oocyte smooth muscle tissue Top expressed in zygote secondary oocyte epithelium of lens primary oocyte interventricular septum Region I of hippocampus proper dentate gyrus of hippocampal formation granule cell spermatocyte uterus arcuate nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function nucleic acid binding metal ion binding transcription corepressor activity DNA-binding transcription factor activity, RNA polymerase II-specific protein binding Cellular component transcription repressor complex fibrillar center nucleus cytosol Biological process lipid metabolism transcription, DNA-templated negative regulation of transcription by RNA polymerase II regulation of transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 221895 231986 Ensembl ENSG00000153814 ENSMUSG00000063568 UniProt Q86VZ6 Q80ZQ5 RefSeq (mRNA) NM_175061 NM_001168277 NM_173406 RefSeq (protein) NP_778231 NP_001161749 NP_775582 Location (UCSC) Chr 7: 27.83 – 28.18 Mb Chr 6: 52.75 – 53.05 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Juxtaposed with another zinc finger protein 1 (JAZF1) also known as TAK1-interacting protein 27 (TIP27) or zinc finger protein 802 (ZNF802) is a protein that in humans is encoded by the JAZF1 gene. Variants are associated with an increased risk of prostate cancer, an increased risk of type 2 diabetes, and an increased height.

Function

This gene encodes a nuclear protein with three C₂H₂-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized

Further reading

• Koontz JI, Soreng AL, Nucci M, Kuo FC, Pauwels P, van Den Berghe H, et al. (May 2001). "Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors". Proceedings of the National Academy of Sciences of the United States of America. 98 (11): 6348–6353. Bibcode:2001PNAS...98.6348K. doi:10.1073/pnas.101132598. PMC 33471. PMID 11371647.
• Huang HY, Ladanyi M, Soslow RA (2004). "Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology: evidence for genetic heterogeneity". The American Journal of Surgical Pathology. 28 (2): 224–232. doi:10.1097/00000478-200402000-00010. PMID 15043312. S2CID 21043514.
• Nakajima T, Fujino S, Nakanishi G, Kim YS, Jetten AM (2004). "TIP27: a novel repressor of the nuclear orphan receptor TAK1/TR4". Nucleic Acids Research. 32 (14): 4194–4204. doi:10.1093/nar/gkh741. PMC 514368. PMID 15302918.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Micci F, Panagopoulos I, Bjerkehagen B, Heim S (2006). "Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma". Cancer Research. 66 (1): 107–112. doi:10.1158/0008-5472.CAN-05-2485. PMID 16397222.
• Nucci MR, Harburger D, Koontz J, Dal Cin P, Sklar J (January 2007). "Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms". The American Journal of Surgical Pathology. 31 (1): 65–70. doi:10.1097/01.pas.0000213327.86992.d1. PMID 17197920. S2CID 36622314.
• Oliva E, de Leval L, Soslow RA, Herens C (2007). "High frequency of JAZF1-JJAZ1 gene fusion in endometrial stromal tumors with smooth muscle differentiation by interphase FISH detection". The American Journal of Surgical Pathology. 31 (8): 1277–1284. doi:10.1097/PAS.0b013e318031f012. PMID 17667554. S2CID 37204785.