JAZF1

JAZF1
Identifiers
Aliases	JAZF1 , TIP27, ZNF802, JAZF zinc finger 1
External IDs	OMIM: 606246; MGI: 2141450; HomoloGene: 18291; GeneCards: JAZF1; OMA:JAZF1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7p15.2-p15.1 Start 27,830,573 bp [1] End 28,180,795 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6 B3|6 25.74 cM Start 52,745,782 bp [2] End 53,045,616 bp [2]
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 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 [3] [4]
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. ^{[5] [6]} Variants are associated with an increased risk of prostate cancer, an increased risk of type 2 diabetes, and an increased height. ^[7]

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 ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000153814 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000063568 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Adams MD, Soares MB, Kerlavage AR, Fields C, Venter JC (Nov 1993). "Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library". Nat Genet. 4 (4): 373–80. doi:10.1038/ng0893-373. PMID   8401585. S2CID   12612300.
6. "Entrez Gene: JAZF1 JAZF zinc finger 1".
7. Manolio TA; Guttmacher, Alan E.; Manolio, Teri A. (July 2010). "Genomewide Association Studies and Assessment of the Risk of Disease". N Engl J Med. 363 (2): 166–176. doi: 10.1056/NEJMra0905980 . PMID   20647212.

Further reading

• Koontz JI, Soreng AL, Nucci M, et al. (2001). "Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors". Proc. Natl. Acad. Sci. U.S.A. 98 (11): 6348–53. Bibcode:2001PNAS...98.6348K. doi: 10.1073/pnas.101132598 . PMC   33471 . PMID   11371647.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC   2882961 . PMID   12690205.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• 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". Am. J. Surg. Pathol. 28 (2): 224–32. doi:10.1097/00000478-200402000-00010. PMID   15043312. S2CID   21043514.
• Nakajima T, Fujino S, Nakanishi G, et al. (2004). "TIP27: a novel repressor of the nuclear orphan receptor TAK1/TR4". Nucleic Acids Res. 32 (14): 4194–204. doi:10.1093/nar/gkh741. PMC   514368 . PMID   15302918.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 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 Res. 66 (1): 107–12. doi: 10.1158/0008-5472.CAN-05-2485 . PMID   16397222.
• Nucci MR, Harburger D, Koontz J, et al. (2007). "Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms". Am. J. Surg. Pathol. 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". Am. J. Surg. Pathol. 31 (8): 1277–84. doi:10.1097/PAS.0b013e318031f012. PMID   17667554. S2CID   37204785.