JAZF1

JAZF1
Identifiers
Aliases	JAZF1, TIP27, ZNF802, JAZF zinc finger 1
External IDs	OMIM: 606246 MGI: 2141450 HomoloGene: 18291 GeneCards: JAZF1
Gene location (Human)
Chr.	Chromosome 7 (human)
End	28,180,795 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	53,045,616 bp
RNA expression pattern
	Top expressed in
	trabecular bone; ; urethra; ; endometrium; ; oocyte; ; secondary oocyte; ; smooth muscle tissue; ; Brodmann area 46; ; synovial joint; ; canal of the cervix; ; monocyte;
	Top expressed in
	secondary oocyte; ; interventricular septum; ; Region I of hippocampus proper; ; spermatocyte; ; uterus; ; arcuate nucleus; ; hippocampus proper; ; islet of Langerhans; ; visual cortex; ; neural tube;
	More reference expression data
	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
	221895
	231986
	ENSG00000153814
	ENSMUSG00000063568
	Q86VZ6
	Q80ZQ5
	NM_175061
	NM_001168277; NM_173406
	NP_778231
	NP_001161749; NP_775582
	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 edit

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 edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000153814 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000063568 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: JAZF1 JAZF zinc finger 1".
^ 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 edit

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.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000153814 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid8401585-5] 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.

[entrez-6] "Entrez Gene: JAZF1 JAZF zinc finger 1".

[Manolio_2010-7] 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.

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