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    ZBTB3 zinc finger and BTB domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 79842, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZBTB3provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:22918
    See related
    Ensembl:ENSG00000185670 AllianceGenome:HGNC:22918
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 1.5), skin (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB3 in Genome Data Viewer
    Location:
    11q12.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62750963..62754160, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62740349..62743546, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62518435..62521632, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene HNRNPUL2-BSCL2 readthrough (NMD candidate) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62482895-62483396 Neighboring gene heterogeneous nuclear ribonucleoprotein U like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4843 Neighboring gene tetratricopeptide repeat domain 9C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62520285-62521162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62522043-62522920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62524299-62524825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4845 Neighboring gene RNA polymerase II subunit G Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4847 Neighboring gene transmembrane protein 223 Neighboring gene TATA-box binding protein associated factor 6 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3430

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Zinc finger and BTB domain-containing protein 3 is essential for the growth of cancer cells. Lim JH. BMB Rep, 2014 Jul. PMID 24856827, Free PMC Article
    2. An autoimmune pleiotropic SNP modulates IRF5 alternative promoter usage through ZBTB3-mediated chromatin looping. Wang Z, et al. Nat Commun, 2023 Mar 3. PMID 36869052, Free PMC Article
    3. E3 ubiquitin ligase RBX1 drives the metastasis of triple negative breast cancer through a FBXO45-TWIST1-dependent degradation mechanism. Shao J, et al. Aging (Albany NY), 2022 Jul 8. PMID 35802537, Free PMC Article
    4. SPOP targets oncogenic protein ZBTB3 for destruction to suppress endometrial cancer. Jin X, et al. Am J Cancer Res, 2019. PMID 31911863, Free PMC Article
    5. Recruitment of the Mammalian Histone-modifying EMSY Complex to Target Genes Is Regulated by ZNF131. Varier RA, et al. J Biol Chem, 2016 Apr 1. PMID 26841866, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An autoimmune pleiotropic SNP modulates IRF5 alternative promoter usage through ZBTB3-mediated chromatin looping.
      Title: An autoimmune pleiotropic SNP modulates IRF5 alternative promoter usage through ZBTB3-mediated chromatin looping.
    2. Suppression of ZBTB3 activates a caspase cascade, including caspase-9, -3, and PARP leading to cellular apoptosis, resulting from failed ROS detoxification.
      Title: Zinc finger and BTB domain-containing protein 3 is essential for the growth of cancer cells.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23392

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 3

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001363108.2 → NP_001350037.1  zinc finger and BTB domain-containing protein 3

      Status: VALIDATED

      Source sequence(s)
      AP001160
      Consensus CDS
      CCDS8034.2
      UniProtKB/Swiss-Prot
      Q9H5J0
      UniProtKB/TrEMBL
      A0A6E1W9L1
      Conserved Domains (4) summary
      PHA03247
      Location:173 → 401
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:424 → 444
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18323
      Location:1 → 130
      BTB_POZ_ZBTB3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 3 (ZBTB3)
      pfam13465
      Location:437 → 461
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001363109.2 → NP_001350038.1  zinc finger and BTB domain-containing protein 3

      Status: VALIDATED

      Source sequence(s)
      AP001160
      Consensus CDS
      CCDS8034.2
      UniProtKB/Swiss-Prot
      Q9H5J0
      UniProtKB/TrEMBL
      A0A6E1W9L1
      Conserved Domains (4) summary
      PHA03247
      Location:173 → 401
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:424 → 444
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18323
      Location:1 → 130
      BTB_POZ_ZBTB3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 3 (ZBTB3)
      pfam13465
      Location:437 → 461
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001370809.1 → NP_001357738.1  zinc finger and BTB domain-containing protein 3

      Status: VALIDATED

      Source sequence(s)
      AP001160
      Consensus CDS
      CCDS8034.2
      UniProtKB/Swiss-Prot
      Q9H5J0
      UniProtKB/TrEMBL
      A0A6E1W9L1
      Related
      ENSP00000378286.4, ENST00000394807.5
      Conserved Domains (4) summary
      PHA03247
      Location:173 → 401
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:424 → 444
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18323
      Location:1 → 130
      BTB_POZ_ZBTB3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 3 (ZBTB3)
      pfam13465
      Location:437 → 461
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      62750963..62754160 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      62740349..62743546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024784.4: Suppressed sequence

      Description
      NM_024784.4: This RefSeq was removed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H5J0.1 GenPept UniProtKB/Swiss-Prot:Q9H5J0

    Gene LinkOut

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

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