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

    Gene ID: 221895, updated on 22-Apr-2017
    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; Vega:OTTHUMG00000128545
    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]
    Orthologs
    Location:
    7p15.2-p15.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (27830573..28180818, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (27870192..28220437, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene 3-hydroxyisobutyrate dehydrogenase Neighboring gene uncharacterized LOC105375211 Neighboring gene uncharacterized LOC105375210 Neighboring gene Tax1 binding protein 1 Neighboring gene uncharacterized LOC105375208 Neighboring gene RNA, U6 small nuclear 979, pseudogene Neighboring gene JAZF1 antisense RNA 1 Neighboring gene peptidylprolyl isomerase A (cyclophilin A) pseudogene Neighboring gene cAMP responsive element binding protein 5 Neighboring gene ribosomal protein S2 pseudogene 30

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Clone Names

    • DKFZp761K2222

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    transcriptional 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

    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
      5001..355246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_175061.3NP_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
      Q86VZ6
      Related
      ENSP00000283928.5, OTTHUMP00000158681, ENST00000283928.9, OTTHUMT00000250382
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      27830573..28180818 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715656.1XP_006715719.1  juxtaposed with another zinc finger protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006715719.1

      Conserved Domains (1) summary
      COG5189
      Location:105166
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    2. XM_017011832.1XP_016867321.1  juxtaposed with another zinc finger protein 1 isoform X1

      Conserved Domains (1) summary
      COG5189
      Location:105166
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    3. XM_017011831.1XP_016867320.1  juxtaposed with another zinc finger protein 1 isoform X1

      Conserved Domains (1) summary
      COG5189
      Location:105166
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      27869845..28220315 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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