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JAZF1 (JAZF zinc finger 1)

Written2009-04Hui Li, Jeffrey Sklar
University of Virginia Medical School, Charlottesville, VA 22908, USA (HL), Department of Pathology, Yale University, New haven, CT, USA (JS)

(Note : for Links provided by Atlas : click)


Alias (NCBI)TIP27
HGNC Alias symbTIP27
LocusID (NCBI) 221895
Atlas_Id 41036
Location 7p15.2  [Link to chromosome band 7p15]
Location_base_pair Starts at 27830580 and ends at 28180795 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping JAZF1.png]
  Metaphase FISH using as probe YAC908B12, which encompasses the entire JAZF1 at 7p15.2.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CPVL (7p14.3)::JAZF1 (7p15.2)HBP1 (7q22.3)::JAZF1 (7p15.2)JAZF1 (7p15.2)::CDCA7L (7p15.3)
JAZF1 (7p15.2)::CPT1C (19q13.33)JAZF1 (7p15.2)::CTNNA1 (5q31.2)JAZF1 (7p15.2)::IL7 (8q21.12)
JAZF1 (7p15.2)::MCFD2 (2p21)JAZF1 (7p15.2)::PHF1 (6p21.32)JAZF1 (7p15.2)::SNX13 (7p21.1)
JAZF1 (7p15.2)::SRSF6 (20q13.11)JAZF1 (7p15.2)::SUZ12 (17q11.2)MSRB3 (12q14.3)::JAZF1 (7p15.2)
RAI1 (17p11.2)::JAZF1 (7p15.2)RNF216 (7p22.1)::JAZF1 (7p15.2)SUZ12 (17q11.2)::JAZF1 (7p15.2)
TAX1BP1 (7p15.2)::JAZF1 (7p15.2)


Description 5 exons; spans 350kb.
Transcription Major transcript: 2,980bp; coding sequence: 52-783.


Description 243 amino acids.
Expression Expressed in all the tissues tested with variable level. The tissues or organs that express JAZF1 include cerebellum, lung, thymus, liver, kidney, stomach/esophagus, skeleton muscle, skin and eye.
Localisation Mostly nucleus.
Function JAZF1 has three C2H2-type zinc fingers. It is mostly detected within the nucleus, with lesser amounts found in the cytoplasm. JAZF1 copurifies with chromatin, and presumably has DNA-binding properties. It has been reported to interact with TAK1 and function as a transcriptional repressor of the TAK1 gene.
SNPs in intron 1 of JAZF1 has been reported to be associated with type 2 diabetes and body height.
SNPs in intron 2 of JAZF1 have been reported to be associate with reduced prevalence of prostate cancer. Chimeric JAZF1-JJAZ1 protein (amino acid sequence of the first three exons of JAZF1 joined to sequence of the last 15 exons of JJAZ1) resulting from trans-splicing of precursor mRNAs and identical to a product generated from the JAZF1-JJAZ1 gene fusion in endometrial tumors has been found in normal endometrium.
Homology Unkown.


Somatic JAZF1 has been identified at the breakpoints of a recurrent chromosomal translocation, the t(7;17)(p15;q21), in endometrial stromal tumors (benign nodules and sarcomas). The translocation leads to a JAZF1-JJAZ1 fusion gene. This gene fusion is detected in about 50% of endometrial stromal sarcomas and most endometrial stromal nodules.
Another common chromosomal translocation in endometrial stroma sarcomas, the t(6;7)(p21;p15), results in a JAZF1-PHF1 fusion. About 25-30% of endometrial stromal sarcomas are reported to contain this fusion. The sites of fusion within JAZF1 RNA to JJAZ1 and PHF1 RNA sequence are the same.
Both JJAZ1(also called SUZ12) and PHF1 belong to the Polycomb group (PcG) gene family.

Implicated in

Entity / endometrial stromal nodule and endometrial sarcoma
Disease Endometrial stroma nodule and sarcoma.
Cytogenetics t(7;17)(p15;q21)
Hybrid/Mutated Gene JAZF1-JJAZ1
Abnormal Protein JAZF1-JJAZ1
Oncogenesis The fusion protein protects cells from hypoxia-induced apoptosis, and also promotes proliferation when the wild-type allele of JJAZ1 is silenced (as it is in endometrial stromal sarcomas carrying the t(7;17)(p15;q21)).
Entity / endometrial stroma sarcoma
Disease Endometrial stroma sarcoma.
Cytogenetics t(6;7)(p21;p15)
Hybrid/Mutated Gene JAZF1-PHF1
Abnormal Protein JAZF1-PHF1
Oncogenesis The function of the JAZF1-PHF1 fusion is not currently known.
Entity Prostate carcinoma
Oncogenesis A SNIP in intron 2 of JAZF1 is associated with a somewhat decreased risk of prostate cancer, especially cancers that have been classified as being less aggressive. The mechanism by which polymorphisms alter the susceptibility toward prostate cancer is not currently known.




A genetic link between type 2 diabetes and prostate cancer.
Frayling TM, Colhoun H, Florez JC.
Diabetologia. 2009 Feb;52(2):378-9.
PMID 18696045
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis.
Johansson A, Marroni F, Hayward C, Franklin CS, Kirichenko AV, Jonasson I, Hicks AA, Vitart V, Isaacs A, Axenovich T, Campbell S, Dunlop MG, Floyd J, Hastie N, Hofman A, Knott S, Kolcic I, Pichler I, Polasek O, Rivadeneira F, Tenesa A, Uitterlinden AG, Wild SH, Zorkoltseva IV, Meitinger T, Wilson JF, Rudan I, Campbell H, Pattaro C, Pramstaller P, Oostra BA, Wright AF, van Duijn CM, Aulchenko YS, Gyllensten U; EUROSPAN Consortium.
Hum Mol Genet. 2009 Jan 15;18(2):373-80. Epub 2008 Oct 24.
PMID 18952825
Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors.
Koontz JI, Soreng AL, Nucci M, Kuo FC, Pauwels P, van Den Berghe H, Dal Cin P, Fletcher JA, Sklar J.
Proc Natl Acad Sci U S A. 2001 May 22;98(11):6348-53.
PMID 11371647
Effects of rearrangement and allelic exclusion of JJAZ1/SUZ12 on cell proliferation and survival.
Li H, Ma X, Wang J, Koontz J, Nucci M, Sklar J.
Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):20001-6. Epub 2007 Dec 6.
PMID 18077430
A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells.
Li H, Wang J, Mor G, Sklar J.
Science. 2008 Sep 5;321(5894):1357-61.
PMID 18772439
Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma.
Micci F, Panagopoulos I, Bjerkehagen B, Heim S.
Cancer Res. 2006 Jan 1;66(1):107-12.
PMID 16397222
Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms.
Nucci MR, Harburger D, Koontz J, Dal Cin P, Sklar J.
Am J Surg Pathol. 2007 Jan;31(1):65-70.
PMID 17197920
Multiple loci identified in a genome-wide association study of prostate cancer.
Thomas G, Jacobs KB, Yeager M, Kraft P, Wacholder S, Orr N, Yu K, Chatterjee N, Welch R, Hutchinson A, Crenshaw A, Cancel-Tassin G, Staats BJ, Wang Z, Gonzalez-Bosquet J, Fang J, Deng X, Berndt SI, Calle EE, Feigelson HS, Thun MJ, Rodriguez C, Albanes D, Virtamo J, Weinstein S, Schumacher FR, Giovannucci E, Willett WC, Cussenot O, Valeri A, Andriole GL, Crawford ED, Tucker M, Gerhard DS, Fraumeni JF Jr, Hoover R, Hayes RB, Hunter DJ, Chanock SJ.
Nat Genet. 2008 Mar;40(3):310-5. Epub 2008 Feb 10.
PMID 18264096
Generalizability of associations from prostate cancer genome-wide association studies in multiple populations.
Waters KM, Le Marchand L, Kolonel LN, Monroe KR, Stram DO, Henderson BE, Haiman CA.
Cancer Epidemiol Biomarkers Prev. 2009 Apr;18(4):1285-9. Epub 2009 Mar 24.
PMID 19318432
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PI, Abecasis GR, Almgren P, Andersen G, Ardlie K, Bostrom KB, Bergman RN, Bonnycastle LL, Borch-Johnsen K, Burtt NP, Chen H, Chines PS, Daly MJ, Deodhar P, Ding CJ, Doney AS, Duren WL, Elliott KS, Erdos MR, Frayling TM, Freathy RM, Gianniny L, Grallert H, Grarup N, Groves CJ, Guiducci C, Hansen T, Herder C, Hitman GA, Hughes TE, Isomaa B, Jackson AU, Jorgensen T, Kong A, Kubalanza K, Kuruvilla FG, Kuusisto J, Langenberg C, Lango H, Lauritzen T, Li Y, Lindgren CM, Lyssenko V, Marvelle AF, Meisinger C, Midthjell K, Mohlke KL, Morken MA, Morris AD, Narisu N, Nilsson P, Owen KR, Palmer CN, Payne F, Perry JR, Pettersen E, Platou C, Prokopenko I, Qi L, Qin L, Rayner NW, Rees M, Roix JJ, Sandbaek A, Shields B, Sjogren M, Steinthorsdottir V, Stringham HM, Swift AJ, Thorleifsson G, Thorsteinsdottir U, Timpson NJ, Tuomi T, Tuomilehto J, Walker M, Watanabe RM, Weedon MN, Willer CJ; Wellcome Trust Case Control Consortium, Illig T, Hveem K, Hu FB, Laakso M, Stefansson K, Pedersen O, Wareham NJ, Barroso I, Hattersley AT, Collins FS, Groop L, McCarthy MI, Boehnke M, Altshuler D.
Nat Genet. 2008 May;40(5):638-45. Epub 2008 Mar 30.
PMID 18372903


This paper should be referenced as such :
Li, H ; Sklar, J
JAZF1 (JAZF zinc finger 1)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(3):286-288.
Free journal version : [ pdf ]   [ DOI ]

External links


HGNC (Hugo)JAZF1   28917
Entrez_Gene (NCBI)JAZF1    JAZF zinc finger 1
AliasesTIP27; ZNF802
GeneCards (Weizmann)JAZF1
Ensembl hg19 (Hinxton)ENSG00000153814 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000153814 [Gene_View]  ENSG00000153814 [Sequence]  chr7:27830580-28180795 [Contig_View]  JAZF1 [Vega]
ICGC DataPortalENSG00000153814
TCGA cBioPortalJAZF1
Genatlas (Paris)JAZF1
SOURCE (Princeton)JAZF1
Genetics Home Reference (NIH)JAZF1
Genomic and cartography
GoldenPath hg38 (UCSC)JAZF1  -     chr7:27830580-28180795 -  7p15.2-p15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)JAZF1  -     7p15.2-p15.1   [Description]    (hg19-Feb_2009)
GoldenPathJAZF1 - 7p15.2-p15.1 [CytoView hg19]  JAZF1 - 7p15.2-p15.1 [CytoView hg38]
Genome Data Viewer NCBIJAZF1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK000711 AK091311 AL832491 AL834234 AY372319
RefSeq transcript (Entrez)NM_175061
Consensus coding sequences : CCDS (NCBI)JAZF1
Gene ExpressionJAZF1 [ NCBI-GEO ]   JAZF1 [ EBI - ARRAY_EXPRESS ]   JAZF1 [ SEEK ]   JAZF1 [ MEM ]
Gene Expression Viewer (FireBrowse)JAZF1 [ Firebrowse - Broad ]
GenevisibleExpression of JAZF1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)221895
GTEX Portal (Tissue expression)JAZF1
Human Protein AtlasENSG00000153814-JAZF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86VZ6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86VZ6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86VZ6
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)   
Domains : Interpro (EBI)JAZF1    Znf_C2H2_sf    Znf_C2H2_type   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)JAZF1
AlphaFold pdb e-kbQ86VZ6   
Human Protein Atlas [tissue]ENSG00000153814-JAZF1 [tissue]
Protein Interaction databases
IntAct (EBI)Q86VZ6
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  fibrillar center  transcription corepressor activity  protein binding  nucleus  nucleoplasm  cytosol  lipid metabolic process  transcription repressor complex  metal ion binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  fibrillar center  transcription corepressor activity  protein binding  nucleus  nucleoplasm  cytosol  lipid metabolic process  transcription repressor complex  metal ion binding  
NDEx NetworkJAZF1
Atlas of Cancer Signalling NetworkJAZF1
Wikipedia pathwaysJAZF1
Orthology - Evolution
GeneTree (enSembl)ENSG00000153814
Phylogenetic Trees/Animal Genes : TreeFamJAZF1
Homologs : HomoloGeneJAZF1
Homology/Alignments : Family Browser (UCSC)JAZF1
Gene fusions - Rearrangements
Fusion : MitelmanJAZF1::CPT1C [7p15.2/19q13.33]  
Fusion : MitelmanJAZF1::PHF1 [7p15.2/6p21.32]  
Fusion : MitelmanJAZF1::SNX13 [7p15.2/7p21.1]  
Fusion : MitelmanJAZF1::SUZ12 [7p15.2/17q11.2]  
Fusion : MitelmanMSRB3::JAZF1 [12q14.3/7p15.2]  
Fusion : MitelmanRNF216::JAZF1 [7p22.1/7p15.2]  
Fusion : MitelmanTAX1BP1::JAZF1 [7p15.2/7p15.2]  
Fusion : COSMICJAZF1 [7p15.2]  -  SUZ12 [17q11.2]  [fusion_568]  [fusion_570]  
Fusion : QuiverJAZF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerJAZF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)JAZF1
Exome Variant ServerJAZF1
GNOMAD BrowserENSG00000153814
Varsome BrowserJAZF1
ACMGJAZF1 variants
Genomic Variants (DGV)JAZF1 [DGVbeta]
DECIPHERJAZF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisJAZF1 
ICGC Data PortalJAZF1 
TCGA Data PortalJAZF1 
Broad Tumor PortalJAZF1
OASIS PortalJAZF1 [ Somatic mutations - Copy number]
Cancer Gene: CensusJAZF1 
Somatic Mutations in Cancer : COSMICJAZF1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DJAZF1
Mutations and Diseases : HGMDJAZF1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)JAZF1
DoCM (Curated mutations)JAZF1
CIViC (Clinical Interpretations of Variants in Cancer)JAZF1
NCG (London)JAZF1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry JAZF1
NextProtQ86VZ6 [Medical]
Target ValidationJAZF1
Huge Navigator JAZF1 [HugePedia]
Clinical trials, drugs, therapy
Protein Interactions : CTDJAZF1
Pharm GKB GenePA162392484
Clinical trialJAZF1
DataMed IndexJAZF1
PubMed101 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:20:38 CEST 2021

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