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JAZF1

From Wikipedia, the free encyclopedia
JAZF1
Identifiers
AliasesJAZF1, TIP27, ZNF802, JAZF zinc finger 1
External IDsOMIM: 606246; MGI: 2141450; HomoloGene: 18291; GeneCards: JAZF1; OMA:JAZF1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_175061

NM_001168277
NM_173406

RefSeq (protein)

NP_778231

NP_001161749
NP_775582

Location (UCSC)Chr 7: 27.83 – 28.18 MbChr 6: 52.75 – 53.05 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000153814Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063568Ensembl, 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. ^ a b "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

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