U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    JAZF1 JAZF zinc finger 1 [ Homo sapiens (human) ]

    Gene ID: 221895, updated on 19-Aug-2025
    Official Symbol
    JAZF1provided by HGNC
    Official Full Name
    JAZF zinc finger 1provided by HGNC
    Primary source
    HGNC:HGNC:28917
    See related
    Ensembl:ENSG00000153814 MIM:606246; AllianceGenome:HGNC:28917
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TIP27; ZNF802
    Summary
    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]
    Expression
    Broad expression in adrenal (RPKM 50.1), endometrium (RPKM 20.1) and 20 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table
    See JAZF1 in Genome Data Viewer
    Location:
    7p15.2-p15.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (27830577..28180795, complement)
    RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (27968286..28318176, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (27870196..28220414, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene 3-hydroxyisobutyrate dehydrogenase Neighboring gene uncharacterized LOC105375211 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27702239-27703056 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:27717219-27718418 Neighboring gene Sharpr-MPRA regulatory region 14722 Neighboring gene MPRA-validated peak6452 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27779716-27780578 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:27780579-27781442 Neighboring gene TAX1BP1 antisense RNA 1 Neighboring gene Tax1 binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27903667-27904167 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:27907318-27908517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25793 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:28021142-28022341 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:28027281-28027840 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:28076521-28077720 Neighboring gene uncharacterized LOC105375208 Neighboring gene VISTA enhancer hs1430 Neighboring gene RNA, U6 small nuclear 979, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:28218633-28219134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:28219135-28219634 Neighboring gene MPRA-validated peak6455 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25794 Neighboring gene JAZF1 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr7:28330425-28331392 and GRCh37_chr7:28331393-28332360 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:28332361-28333326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:28350942-28351442 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:28398093-28398687 Neighboring gene peptidylprolyl isomerase A pseudogene 80 Neighboring gene Sharpr-MPRA regulatory region 5389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25795 Neighboring gene cAMP responsive element binding protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25797 Neighboring gene Sharpr-MPRA regulatory region 14916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18046 Neighboring gene VISTA enhancer hs1604 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:28651065-28652264 Neighboring gene ribosomal protein S2 pseudogene 30

    Go to nucleotide: Graphics FASTA GenBank

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Related articles in PubMed

    1. Rs864745 in JAZF1, an Islet Function Associated Variant, Correlates With Plasma Lipid Levels in Both Type 1 and Type 2 Diabetes Status, but Not Healthy Subjects. Dai H, et al. Front Endocrinol (Lausanne), 2022. PMID 35846288, Free PMC Article
    2. JAZF1, a relevant metabolic regulator in type 2 diabetes. Liao ZZ, et al. Diabetes Metab Res Rev, 2019 Jul. PMID 30838734
    3. Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma. Micci F, et al. Cancer Res, 2006 Jan 1. PMID 16397222
    4. Gene-environment interactions between JAZF1 and occupational and household lead exposure in prostate cancer among African American men. Neslund-Dudas C, et al. Cancer Causes Control, 2014 Jul. PMID 24801046, Free PMC Article
    5. Allele-specific transcriptional activity at type 2 diabetes-associated single nucleotide polymorphisms in regions of pancreatic islet open chromatin at the JAZF1 locus. Fogarty MP, et al. Diabetes, 2013 May. PMID 23328127, Free PMC Article

    See all (112) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. JAZF1: A Metabolic Regulator of Sensitivity to a Polyamine-Targeted Therapy.
      Title: JAZF1: A Metabolic Regulator of Sensitivity to a Polyamine-Targeted Therapy.
    2. Rs864745 in JAZF1, an Islet Function Associated Variant, Correlates With Plasma Lipid Levels in Both Type 1 and Type 2 Diabetes Status, but Not Healthy Subjects.
      Title: Rs864745 in JAZF1, an Islet Function Associated Variant, Correlates With Plasma Lipid Levels in Both Type 1 and Type 2 Diabetes Status, but Not Healthy Subjects.
    3. JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.
      Title: JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.
    4. Down-regulation of the transcriptional repressor ZNF802 (JAZF1) reactivates fetal hemoglobin in beta(0)-thalassemia/HbE.
      Title: Down-regulation of the transcriptional repressor ZNF802 (JAZF1) reactivates fetal hemoglobin in β(0)-thalassemia/HbE.
    5. RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.
      Title: RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.
    6. Correlation analysis of epicardial adipose tissue thickness, C-reactive protein, interleukin-6, visfatin, juxtaposed with another zinc finger protein 1, and type 2 diabetic macroangiopathy.
      Title: Correlation analysis of epicardial adipose tissue thickness, C-reactive protein, interleukin-6, visfatin, juxtaposed with another zinc finger protein 1, and type 2 diabetic macroangiopathy.
    7. The relationship between chimeric RNAs and gene fusions: Potential implications of reciprocity in cancer.
      Title: The relationship between chimeric RNAs and gene fusions: Potential implications of reciprocity in cancer.
    8. TFAP2B, AP-1 and JAZF1 Expression in Tissues of Papillary Thyroid Carcinoma Patients; Clinical, Pathological and Prognostic Values.
      Title: TFAP2B, AP-1 and JAZF1 Expression in Tissues of Papillary Thyroid Carcinoma Patients; Clinical, Pathological and Prognostic Values.
    9. The Diabetes Gene JAZF1 Is Essential for the Homeostatic Control of Ribosome Biogenesis and Function in Metabolic Stress.
      Title: The Diabetes Gene JAZF1 Is Essential for the Homeostatic Control of Ribosome Biogenesis and Function in Metabolic Stress.
    10. This review provides an update of the latest research advances on JAZF1 and its regulatory network in T2 diabetes mellitus (T2DM). The association between JAZF1 polymorphisms and T2DM is discussed as well. The information provided is of importance for guiding future studies as well as for the design of JAZF1-based T2DM therapy. [review]
      Title: JAZF1, a relevant metabolic regulator in type 2 diabetes.
    Submit: New GeneRIF Correction See all GeneRIFs (48)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
    EBI GWAS Catalog
    A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
    EBI GWAS Catalog
    Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis.
    EBI GWAS Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    EBI GWAS Catalog
    Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
    EBI GWAS Catalog
    Multiple loci identified in a genome-wide association study of prostate cancer.
    EBI GWAS Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    EBI GWAS Catalog

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp761K2222

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of transcription repressor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Preferred Names
    juxtaposed with another zinc finger protein 1
    Names
    TAK1-interacting protein 27
    juxtaposed with another zinc finger gene 1
    zinc finger protein 802

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011499.1 RefSeqGene

      Range
      5024..355242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_175061.4 → NP_778231.2  juxtaposed with another zinc finger protein 1

      See identical proteins and their annotated locations for NP_778231.2

      Status: REVIEWED

      Source sequence(s)
      AK091311, BC042441, BC047229, DA864624
      Consensus CDS
      CCDS5416.1
      UniProtKB/Swiss-Prot
      A4D195, Q86VZ6, Q8N3L7
      UniProtKB/TrEMBL
      H0Y403
      Related
      ENSP00000283928.5, ENST00000283928.10
      Conserved Domains (1) summary
      COG5189
      Location:169 → 230
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      27830577..28180795 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420026.1 → XP_047275982.1  juxtaposed with another zinc finger protein 1 isoform X2

    2. XM_047420025.1 → XP_047275981.1  juxtaposed with another zinc finger protein 1 isoform X2

    3. XM_047420027.1 → XP_047275983.1  juxtaposed with another zinc finger protein 1 isoform X2

    4. XM_047420024.1 → XP_047275980.1  juxtaposed with another zinc finger protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      27968286..28318176 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357534.1 → XP_054213509.1  juxtaposed with another zinc finger protein 1 isoform X2

    2. XM_054357535.1 → XP_054213510.1  juxtaposed with another zinc finger protein 1 isoform X2

    3. XM_054357533.1 → XP_054213508.1  juxtaposed with another zinc finger protein 1 isoform X2

    4. XM_054357532.1 → XP_054213507.1  juxtaposed with another zinc finger protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86VZ6.2 GenPept UniProtKB/Swiss-Prot:Q86VZ6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools