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

    Gene ID: 221895, updated on 9-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    See JAZF1 in Genome Data Viewer
    Location:
    7p15.2-p15.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (27830577..28180795, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (27968286..28318176, complement)
    105.20220307 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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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
     
    part_of transcription repressor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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_175061.4NP_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:169230
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_047420026.1XP_047275982.1  juxtaposed with another zinc finger protein 1 isoform X2

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

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

    4. XM_047420024.1XP_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_054357534.1XP_054213509.1  juxtaposed with another zinc finger protein 1 isoform X2

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

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

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