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    ZBTB4 zinc finger and BTB domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 57659, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZBTB4provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:23847
    See related
    Ensembl:ENSG00000174282 MIM:612308; AllianceGenome:HGNC:23847
    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
    Also known as
    ZNF903; KAISO-L1
    Summary
    Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; nucleotide binding activity; and protein homodimerization activity. Involved in DNA damage response and negative regulation of transcription by RNA polymerase II. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 24.8), thyroid (RPKM 20.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB4 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7459378..7484249, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7363418..7388296, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7362697..7387568, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7341479-7342387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7342641-7343174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8121 Neighboring gene fibroblast growth factor 11 Neighboring gene cholinergic receptor nicotinic beta 1 subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7359010-7359511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7368787-7369309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11623 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7386897-7387891 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7387892-7388885 Neighboring gene solute carrier family 35 member G6 Neighboring gene RNA polymerase II subunit A Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:7405086-7406285 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7414586-7415785 Neighboring gene TNFSF12-TNFSF13 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7458208-7458708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7460817-7461610 Neighboring gene TNF superfamily member 12

    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. Identification of ZBTB4 as an immunological biomarker that can inhibit the proliferation and invasion of pancreatic cancer. Yang Z, et al. BMC Cancer, 2023 Mar 22. PMID 36949454, Free PMC Article
    2. Identification of oncogenic microRNA-17-92/ZBTB4/specificity protein axis in breast cancer. Kim K, et al. Oncogene, 2012 Feb 23. PMID 21765466, Free PMC Article
    3. Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease. Blue EE, et al. Genes Brain Behav, 2018 Jul. PMID 29045054, Free PMC Article
    4. Tumor suppressive ZBTB4 inhibits cell growth by regulating cell cycle progression and apoptosis in Ewing sarcoma. Yu Y, et al. Biomed Pharmacother, 2018 Apr. PMID 29425745
    5. The transcriptional repressor ZBTB4 regulates EZH2 through a MicroRNA-ZBTB4-specificity protein signaling axis. Yang WS, et al. Neoplasia, 2014 Dec. PMID 25499219, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of ZBTB4 as an immunological biomarker that can inhibit the proliferation and invasion of pancreatic cancer.
      Title: Identification of ZBTB4 as an immunological biomarker that can inhibit the proliferation and invasion of pancreatic cancer.
    2. miRNA-576-5p promotes endometrial cancer cell growth and metastasis by targeting ZBTB4.
      Title: miRNA-576-5p promotes endometrial cancer cell growth and metastasis by targeting ZBTB4.
    3. Suppression of lncRNA MALAT1 reduces pro-inflammatory cytokines production by regulating miR-150-5p/ZBTB4 axis through JAK/STAT signal pathway in systemic juvenile idiopathic arthritis.
      Title: Suppression of lncRNA MALAT1 reduces pro-inflammatory cytokines production by regulating miR-150-5p/ZBTB4 axis through JAK/STAT signal pathway in systemic juvenile idiopathic arthritis.
    4. miR-301-3p was highly expressed in gastric cancer contributed to tumor progression via attenuating ZBTB4
      Title: MicroRNA-301b-3p accelerates the growth of gastric cancer cells by targeting zinc finger and BTB domain containing 4.
    5. Results show association between AAO of AD and both ZBTB4 and NCSTN. ZBTB4 is a transcriptional repressor that regulates the cell cycle, including the apoptotic response to amyloid beta, while NCSTN is part of the gamma secretase complex, known to influence amyloid beta production.
      Title: Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease.
    6. In vitro, ZBTB4 overexpression inhibited cell proliferation, and induced cell cycle arrest at G1 phase and apoptosis in SK-ES-1 and RD-ES cells.
      Title: Tumor suppressive ZBTB4 inhibits cell growth by regulating cell cycle progression and apoptosis in Ewing sarcoma.
    7. Our results establish the epigenetic regulator ZBTB4 as an essential component in maintaining genomic stability
      Title: Loss of the Methyl-CpG-Binding Protein ZBTB4 Alters Mitotic Checkpoint, Increases Aneuploidy, and Promotes Tumorigenesis.
    8. Thus, EZH2 is reciprocally regulated by a novel signaling network consisting of Sp proteins, oncogenic miRs and ZBTB4, and modulation of this gene network is a novel therapeutic approach for treatment of breast cancer and possibly other cancers.
      Title: The transcriptional repressor ZBTB4 regulates EZH2 through a MicroRNA-ZBTB4-specificity protein signaling axis.
    9. ZBTB4 functions as a novel tumor-suppressor gene with prognostic significance for breast cancer survival
      Title: Identification of oncogenic microRNA-17-92/ZBTB4/specificity protein axis in breast cancer.
    10. the human zinc-finger protein ZBTB4 binds methylated DNA in a sequence-specific manner.
      Title: Sequence-specific recognition of methylated DNA by human zinc-finger proteins.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    • KIAA1538

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methyl-CpG binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methyl-CpNpG binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 4
    Names
    KAISO-like zinc finger protein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001128833.2 → NP_001122305.1  zinc finger and BTB domain-containing protein 4

      See identical proteins and their annotated locations for NP_001122305.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an altenate 5' UTR, as compared to variant 1.
      Source sequence(s)
      AC113189
      Consensus CDS
      CCDS11107.1
      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0
      UniProtKB/TrEMBL
      B3KVD4
      Related
      ENSP00000369973.4, ENST00000380599.9
      Conserved Domains (5) summary
      smart00225
      Location:31 → 62
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00017
      Location:311 → 331
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:20 → 62
      BTB; BTB/POZ domain
      pfam13465
      Location:323 → 347
      zf-H2C2_2; Zinc-finger double domain
      pfam13913
      Location:235 → 257
      zf-C2HC_2; zinc-finger of a C2HC-type

    2. NM_020899.4 → NP_065950.2  zinc finger and BTB domain-containing protein 4

      See identical proteins and their annotated locations for NP_065950.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same protein.
      Source sequence(s)
      AC113189
      Consensus CDS
      CCDS11107.1
      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0
      UniProtKB/TrEMBL
      B3KVD4
      Related
      ENSP00000307858.4, ENST00000311403.4
      Conserved Domains (5) summary
      smart00225
      Location:31 → 62
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00017
      Location:311 → 331
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:20 → 62
      BTB; BTB/POZ domain
      pfam13465
      Location:323 → 347
      zf-H2C2_2; Zinc-finger double domain
      pfam13913
      Location:235 → 257
      zf-C2HC_2; zinc-finger of a C2HC-type

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7459378..7484249 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436481.1 → XP_047292437.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0

    2. XM_006721564.3 → XP_006721627.1  zinc finger and BTB domain-containing protein 4 isoform X1

      See identical proteins and their annotated locations for XP_006721627.1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0
      UniProtKB/TrEMBL
      B3KVD4
      Conserved Domains (5) summary
      smart00225
      Location:31 → 62
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00017
      Location:311 → 331
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:20 → 62
      BTB; BTB/POZ domain
      pfam13465
      Location:323 → 347
      zf-H2C2_2; Zinc-finger double domain
      pfam13913
      Location:235 → 257
      zf-C2HC_2; zinc-finger of a C2HC-type

    3. XM_006721563.4 → XP_006721626.1  zinc finger and BTB domain-containing protein 4 isoform X1

      See identical proteins and their annotated locations for XP_006721626.1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0
      UniProtKB/TrEMBL
      B3KVD4
      Conserved Domains (5) summary
      smart00225
      Location:31 → 62
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00017
      Location:311 → 331
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:20 → 62
      BTB; BTB/POZ domain
      pfam13465
      Location:323 → 347
      zf-H2C2_2; Zinc-finger double domain
      pfam13913
      Location:235 → 257
      zf-C2HC_2; zinc-finger of a C2HC-type

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107299.1 Reference GRCh38.p14 PATCHES

      Range
      79835..104706 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332021.1 → XP_054187996.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0

    2. XM_054332020.1 → XP_054187995.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0

    3. XM_054332023.1 → XP_054187998.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0

    4. XM_054332024.1 → XP_054187999.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0

    5. XM_054332025.1 → XP_054188000.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0

    6. XM_054332022.1 → XP_054187997.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7363418..7388296 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316789.1 → XP_054172764.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0

    2. XM_054316788.1 → XP_054172763.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0

    3. XM_054316787.1 → XP_054172762.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0

    4. XM_054316791.1 → XP_054172766.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0

    5. XM_054316792.1 → XP_054172767.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0

    6. XM_054316793.1 → XP_054172768.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0

    7. XM_054316790.1 → XP_054172765.1  zinc finger and BTB domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KVL6, Q7Z697, Q86XJ4, Q8N4V8, Q9P1Z0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P1Z0.3 GenPept UniProtKB/Swiss-Prot:Q9P1Z0

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