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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

JAZF1 Gene

protein-coding   GIFtS: 50
GCID: GC07M027837

JAZF zinc finger 1

 Explore 12 diseases affiliated with
JAZF1 via our new
 Human Malady Compendium 
Biological research products
for JAZF1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
JAZF Zinc Finger 11 2     TAK1-Interacting Protein 272 3
TIP271 2 3 5     DKFZp761K22221
ZNF8021 2 3     Juxtaposed With Another Zinc Finger Gene 12
Zinc Finger Protein 8022 3     Juxtaposed With Another Zinc Finger Protein 12

External Ids:    HGNC: 289171   Entrez Gene: 2218952   Ensembl: ENSG000001538147   OMIM: 6062465   UniProtKB: Q86VZ63   

Export aliases for JAZF1 gene to outside databases

Previous GC identifers: GC07U990333 GC07M027578 GC07M027612 GC07M027595 GC07M027643 GC07M027752


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for JAZF1:
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 (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: JAZF1_HUMAN, Q86VZ6
Function: Potential transcription factor

Gene Wiki entry for JAZF1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the JAZF1 gene promoter:
         AML1a   Pbx1a   HOXA3   MyoD   Nkx2-5   Tal-1beta   E47   E2F-1   E2F   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJAZF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for JAZF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JAZF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p15.2-p15.1   Ensembl cytogenetic band:  7p15.1   HGNC cytogenetic band: 7p15.2-p15.1

JAZF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAZF1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M027837:  view genomic region     (about GC identifiers)

Start:
27,870,192 bp from pter      End:
28,220,437 bp from pter
Size:
350,246 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 27,920,952-28,270,627     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: JAZF1_HUMAN, Q86VZ6 (See protein sequence)
Recommended Name: Juxtaposed with another zinc finger protein 1  
Size: 243 amino acids; 27079 Da
Subunit: Interacts with TAK1
Subcellular location: Nucleus (Potential)
Miscellaneous: Under hypoxic conditions, the precursor SUZ12 RNA undergoes regulated trans-splicing with the JAZF1 RNA,
resulting in a chimeric isoform which may be protective against apoptosis. The chimeric transcript is characterized by
JAZF1 exons 1-3 joined to SUZ12 exon 2-16. The chimeric transcript is expressed primarily in the endometrium from late
secretory and early proliferative phases of the menstrual cycle, but not in normal myometrium at any phase of the
cycle. Its expression is slightly induced by low levels of progesterone, but suppressed by both estrogen and high
levels of progesterone (PubMed:18772439)
Secondary accessions: A4D195 Q8N3L7
Alternative splicing: 2 isoforms:  Q86VZ6-1   Q86VZ6-2   (Incomplete sequence. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for JAZF1: NX_Q86VZ6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86VZ6

  • JAZF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_778231.2  
    ENSEMBL proteins: 
     ENSP00000388302   ENSP00000283928   ENSP00000387976   ENSP00000415096   ENSP00000415984  
     ENSP00000401829   ENSP00000399083  

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    Uscn Proteins for JAZF1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0017053transcriptional repressor complex IDA15302918


    JAZF1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    JAZF1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q86VZ6

    ProtoNet protein and cluster: Q86VZ6

    UniProtKB/Swiss-Prot: JAZF1_HUMAN, Q86VZ6
    Similarity: Contains 3 C2H2-type zinc fingers


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: JAZF1_HUMAN, Q86VZ6
    Function: Potential transcription factor

    miRNA
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0003714transcription corepressor activity IDA15302918
    GO:0008270zinc ion binding IEA--


    JAZF1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for JAZF1:
     Increased circadian period len  Nuclear 60S biogenesis defects 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for JAZF1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for JAZF1 (Q86VZ63 ENSP000002839284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NR2C2P491163, ENSP000003204474I2D: score=1 STRING: ENSP00000320447
    MAP3K7O433183I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA15302918
    GO:0006351transcription, DNA-dependent IEA--


    JAZF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for JAZF1
    Search CenterWatch for drugs/clinical trials and news about JAZF1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for JAZF1 gene: 
    NM_175061.3  

    Unigene Cluster for JAZF1:

    JAZF zinc finger 1
    Hs.368944  [show with all ESTs]
    Unigene Representative Sequence: NM_175061
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000427814(uc003szm.3) ENST00000283928(uc003szn.3) ENST00000466516
    ENST00000430432 ENST00000447620 ENST00000452993 ENST00000420835 ENST00000454041


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    8/112 QIAGEN miScript miRNA Assays for microRNAs that regulate JAZF1 (see all 112):
    hsa-miR-323-3p hsa-miR-548j hsa-miR-520e hsa-miR-520f hsa-miR-146a hsa-miR-106a hsa-miR-93 hsa-miR-548a-5p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK000711.1 AK091311.1 AL832491.1 AY372319.1 BC042441.1 BC047229.1 

    7 DOTS entries:

    DT.100779449  DT.453881  DT.121046285  DT.121046177  DT.121046277  DT.75161380  DT.95183495 

    24/26 AceView cDNA sequences (see all 26):

    AK091311 AA351109 AL834234 AX746909 AI198420 AY372319 BX279610 BC047229 
    AW296896 AK000711 AA758058 AA922111 BC042441 NM_175061 AA431106 BU659479 
    AL832491 AA861804 BU626449 AW084514 BG104990 AI990891 AA436677 BX427161 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    JAZF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAAATTTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See JAZF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for JAZF1

    SOURCE GeneReport for Unigene cluster: Hs.368944
        SABiosciences Custom PCR Arrays for JAZF1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAZF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for JAZF1 gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jazf11 , 5 JAZF zinc finger 11, 5 92.32(n)1
    99.59(a)1
      6 (25.74 cM)5
    2319861  NM_173406.31  NP_775582.21 
     527687975 
    chicken
    (Gallus gallus)
    Aves JAZF11 JAZF zinc finger 1 87.38(n)
    98.35(a)
      420633  NM_001199618.1  NP_001186547.1 
    lizard
    (Anolis carolinensis)
    Reptilia JAZF16
    --
    99(a)
    1 ↔ 1
    GL343275.1(908138-941586)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.131772 Transcribed sequence 84.78(n)    BX726963.1 
    zebrafish
    (Danio rerio)
    Actinopterygii jazf1a1 JAZF zinc finger 1a 76.19(n)
    86.15(a)
      561144  NM_001044955.1  NP_001038420.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG120541 CG12054 59.94(n)
    56.81(a)
      43694  NM_143596.2  NP_651853.1 


    ENSEMBL Gene Tree for JAZF1 (if available)
    TreeFam Gene Tree for JAZF1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/6325 NCBI SNPs in JAZF1 are shown (see all 6325    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1859140081,2
    C--27800084(+) CACACA/CCCATT 1 -- int10--------
    rs1126260581,2
    C,--27830701(+) TCATTC/AATTCA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs782730511,2
    F,--27830737(+) AGGCAG/AAATCT 1 -- int11Minor allele frequency- A:0.12WA 118
    rs343099291,2
    C--27860510(+) AGCTAT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1872831121,2
    --27869949(+) TAGACA/CCTGTT 1 -- ds50010--------
    rs1913211901,2
    --27869952(+) ACACTA/GTTCAT 1 -- ds50010--------
    rs1448372571,2
    --27869990(+) TAGTT-/TAAG  
            
    TAAGT
    1 -- ds50010--------
    rs1463193441,2
    --27869998(+) TAAGT-/AAAAGTC 1 -- ds50010--------
    rs176142051,2
    C,--27869999(+) TAAGTA/CAGTCC 1 -- ds50013Minor allele frequency- C:0.01NA 142
    rs1471993171,2
    C,--27870053(+) AATCT-/AA    
       GCAAA
    AATGT
    1 -- ds50010--------

    HapMap Linkage Disequilibrium report for JAZF1 (27870192 - 28120192 bp, first 250kb of JAZF1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for JAZF1
         2 CNVs: 99903 3672
         4 Indels: 69838 47331 40964 28618

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    JAZF1 for disorders           About GeneDecksing

    OMIM gene information: 606246    OMIM disorders: --

    UniProtKB/Swiss-Prot: JAZF1_HUMAN, Q86VZ6
  • Note=A chromosomal aberration involving JAZF1 may be a cause of endometrial stromal tumors. Translocation
  • t(7;17)(p15;q21) with SUZ12. The translocation generates the JAZF1-SUZ12 oncogene consisting of the N-terminus part of
    JAZF1 and the C-terminus part of SUZ12. It is frequently found in all cases of endometrial stromal tumors, except in
    endometrial stromal sarcomas, where it is rarer. Translocation t(6;7)(p21;p22) with PHF1

    12 diseases for JAZF1:    About MalaCards
    endometrial stromal tumor    ovarian sex cord tumors    endometrial stromal sarcoma    systemic lupus erythematosus
    lupus erythematosus    diabetes mellitus    rheumatoid arthritis    sarcoma
    prostate cancer    arthritis    prostatitis    obesity

    1 disease from the University of Copenhagen DISEASES database for JAZF1:
    Endometrial stromal sarcoma
    Human Genome Epidemiology (HuGE) Navigator: JAZF1 (68 documents)

    Export disorders for JAZF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for JAZF1 gene, integrated from 9 sources (see all 76):
    (articles sorted by number of sources associating them with JAZF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. (PubMed id 11371647)1, 2, 9 Koontz J.I.... Sklar J. (2001)
    2. A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells. (PubMed id 18772439)1, 2, 9 Li H....Sklar J. (2008)
    3. Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma. (PubMed id 16397222)1, 2 Micci F....Heim S. (2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    7. Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library. (PubMed id 8401585)1, 3 Adams M.D....Venter J.C. (1993)
    8. Effects of rearrangement and allelic exclusion of JJAZ1/SUZ12 on cell proliferation and survival. (PubMed id 18077430)1, 9 Li H....Sklar J. (2007)
    9. Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms. (PubMed id 17197920)1, 9 Nucci M.R....Sklar J. (2007)
    10. High frequency of JAZF1-JJAZ1 gene fusion in endometrial stromal tumors with smooth muscle differentiation by interphase FISH detection. (PubMed id 17667554)1, 9 Oliva E....Herens C. (2007)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 221895 HGNC: 28917 AceView: JAZF1 Ensembl:ENSG00000153814 euGenes: HUgn221895
    ECgene: JAZF1 H-InvDB: JAZF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for JAZF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for JAZF1 gene:
    Search GeneIP for patents involving JAZF1

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