JAZF1
From Wikipedia, the free encyclopedia
JAZF zinc finger 1
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Identifiers | ||||||||||||||
Symbol(s) | JAZF1; DKFZp761K2222; TIP27; ZNF802 | |||||||||||||
External IDs | OMIM: 606246 MGI: 2141450 HomoloGene: 18291 | |||||||||||||
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Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 221895 | 231986 | ||||||||||||
Ensembl | ENSG00000153814 | ENSMUSG00000063568 | ||||||||||||
Uniprot | Q86VZ6 | Q80ZQ5 | ||||||||||||
Refseq | NM_175061 (mRNA) NP_778231 (protein) |
NM_173406 (mRNA) NP_775582 (protein) |
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Location | Chr 7: 27.84 - 28.19 Mb | Chr 6: 52.7 - 53 Mb | ||||||||||||
Pubmed search | [1] | [2] |
JAZF zinc finger 1, also known as JAZF1, is a human gene.[1]
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[1]
[edit] References
[edit] Further reading
- Adams MD, Soares MB, Kerlavage AR, et al. (1993). "Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library.". Nat. Genet. 4 (4): 373–80. doi: . PMID 8401585.
- 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. doi: . 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. doi: . PMID 12477932.
- Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology.". Science 300 (5620): 767–72. doi: . 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: . 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. PMID 15043312.
- 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: . 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: . 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: . 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: . 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: . PMID 17197920.
- 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: . PMID 17667554.