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)
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; ; 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
	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
	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

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 2 3 GRCh38: Ensembl release 89: ENSG00000153814 – Ensembl, May 2017
1 2 3 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 (November 1993). "Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library". Nature Genetics. 4 (4): 373–380. doi:10.1038/ng0893-373. PMID 8401585. S2CID 12612300.
1 2 "Entrez Gene: JAZF1 JAZF zinc finger 1".
↑ Manolio TA (July 2010). "Genomewide association studies and assessment of the risk of disease". The New England Journal of Medicine. 363 (2): 166–176. doi:10.1056/NEJMra0905980. PMID 20647212.

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.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000153814 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[Adams_1993-5] Adams MD, Soares MB, Kerlavage AR, Fields C, Venter JC (November 1993). "Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library". Nature Genetics. 4 (4): 373–380. doi:10.1038/ng0893-373. PMID 8401585. S2CID 12612300.

[entrez-6] 1 2 "Entrez Gene: JAZF1 JAZF zinc finger 1".

[Manolio_2010-7] Manolio TA (July 2010). "Genomewide association studies and assessment of the risk of disease". The New England Journal of Medicine. 363 (2): 166–176. doi:10.1056/NEJMra0905980. PMID 20647212.

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JAZF1

Function

References

Further reading