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    ZBTB7A zinc finger and BTB domain containing 7A [ Homo sapiens (human) ]

    Gene ID: 51341, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZBTB7Aprovided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 7Aprovided by HGNC
    Primary source
    HGNC:HGNC:18078
    See related
    Ensembl:ENSG00000178951 MIM:605878; AllianceGenome:HGNC:18078
    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
    LRF; FBI1; FBI-1; TIP21; ZBTB7; MNDLFH; ZNF857A; pokemon
    Summary
    Enables several functions, including SMAD binding activity; nuclear androgen receptor binding activity; and transcription corepressor binding activity. Involved in several processes, including erythrocyte maturation; negative regulation of signal transduction; and regulation of nucleobase-containing compound metabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon (RPKM 8.0), stomach (RPKM 5.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB7A in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (4043303..4066899, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (4026415..4050025, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (4043301..4066897, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3984027-3984878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3987713-3988214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3988215-3988714 Neighboring gene small nucleolar RNA, C/D box 37 Neighboring gene eukaryotic translation elongation factor 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3998837-3999482 Neighboring gene H3K27ac hESC enhancers GRCh37_chr19:4006760-4007651 and GRCh37_chr19:4007652-4008542 Neighboring gene protein inhibitor of activated STAT 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4043682-4044414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9871 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4062546-4063053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9880 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:4068686-4068844 Neighboring gene MPRA-validated peak3265 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13755 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4089732-4090508 Neighboring gene mitogen-activated protein kinase kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13758 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:4116105-4116291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9882 Neighboring gene Sharpr-MPRA regulatory region 2607 Neighboring gene Sharpr-MPRA regulatory region 6873 Neighboring gene MPRA-validated peak3267 silencer Neighboring gene cAMP responsive element binding protein 3 like 3 Neighboring gene Sharpr-MPRA regulatory region 11650

    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. Knockdown of Pokemon protein expression inhibits hepatocellular carcinoma cell proliferation by suppression of AKT activity. Zhu X, et al. Oncol Res, 2013. PMID 23924858
    2. Epidermal growth factor increases LRF/Pokemon expression in human prostate cancer cells. Aggarwal H, et al. Exp Mol Pathol, 2011 Oct. PMID 21640721, Free PMC Article
    3. [Esculin inhibits proliferation of triple negative breast cancer cells by down-regulating FBI-1]. Mo M, et al. Zhonghua Zhong Liu Za Zhi, 2020 Aug 23. PMID 32867453
    4. LRF/ZBTB7A conservation accentuates its potential as a therapeutic target for the hematopoietic disorders. Chondrou V, et al. Gene, 2020 Nov 15. PMID 32755656
    5. FBI-1 promotes cell proliferation and enhances resistance to chemotherapy of hepatocellular carcinoma in vitro and in vivo. Fang F, et al. Cancer, 2012 Jan 1. PMID 21713761

    See all (152) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZBTB7A forms a heterodimer with ZBTB2 and inhibits ZBTB2 homodimerization required for full activation of HIF-1.
      Title: ZBTB7A forms a heterodimer with ZBTB2 and inhibits ZBTB2 homodimerization required for full activation of HIF-1.
    2. Pokemon inhibits Bim transcription to promote the proliferation, anti-anoikis, invasion, histological grade, and dukes stage of colorectal neoplasms.
      Title: Pokemon inhibits Bim transcription to promote the proliferation, anti-anoikis, invasion, histological grade, and dukes stage of colorectal neoplasms.
    3. Transcriptional repression of lncRNA and miRNA subsets mediated by LRF during erythropoiesis.
      Title: Transcriptional repression of lncRNA and miRNA subsets mediated by LRF during erythropoiesis.
    4. Structural basis for transcription factor ZBTB7A recognition of DNA and effects of ZBTB7A somatic mutations that occur in human acute myeloid leukemia.
      Title: Structural basis for transcription factor ZBTB7A recognition of DNA and effects of ZBTB7A somatic mutations that occur in human acute myeloid leukemia.
    5. Targeting Pokemon is a novel strategy to suppress cancer aggressiveness of non-small cell lung cancer: Identification of Pokemon as ideal target for developing anti-NSCLC drugs.
      Title: Targeting Pokemon is a novel strategy to suppress cancer aggressiveness of non-small cell lung cancer: Identification of Pokemon as ideal target for developing anti-NSCLC drugs.
    6. Post-translational regulation of proto-oncogene ZBTB7A expression by p53 status in cancer cells: HSP90-dependent stabilization vs. p53-KLHL20-ubiquitin proteasomal degradation.
      Title: Post-translational regulation of proto-oncogene ZBTB7A expression by p53 status in cancer cells: HSP90-dependent stabilization vs. p53-KLHL20-ubiquitin proteasomal degradation.
    7. ZBTB7A as a novel vulnerability in neuroendocrine prostate cancer.
      Title: ZBTB7A as a novel vulnerability in neuroendocrine prostate cancer.
    8. ZBTB7A suppresses glioblastoma tumorigenesis through the transcriptional repression of EPB41L5.
      Title: ZBTB7A suppresses glioblastoma tumorigenesis through the transcriptional repression of EPB41L5.
    9. Microcribriform Adenocarcinoma of Salivary Glands: A Unique Tumor Entity Characterized by an SS18::ZBTB7A Fusion.
      Title: Microcribriform Adenocarcinoma of Salivary Glands: A Unique Tumor Entity Characterized by an SS18::ZBTB7A Fusion.
    10. ZBTB7A promotes virus-host homeostasis during human coronavirus 229E infection.
      Title: ZBTB7A promotes virus-host homeostasis during human coronavirus 229E infection.
    Submit: New GeneRIF Correction See all GeneRIFs (111)

    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

    Associated conditions

    Description Tests
    Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
    MedGen: C5676928 OMIM: 619769 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Binding of FBI-1 to HIV-1 Tat is mediated by the zinc finger (ZF) domain of FBI-1 (amino acids 377-584) and is diminished by point mutations in Tat at amino acids 18, 30, and 31 PubMed
    tat FBI-1 is a cellular POZ-domain-containing protein that binds to the HIV-1 LTR and Tat protein and specifically stimulates Tat activity PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC99631, DKFZp547O146

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables SMAD binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables SMAD binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables histone acetyltransferase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nuclear androgen receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nuclear androgen receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription corepressor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription corepressor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in double-strand break repair via classical nonhomologous end joining ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in erythrocyte maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in erythrocyte maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in negative regulation of Notch signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of androgen receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of alternative mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of DNA-dependent protein kinase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with site of double-strand break ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 7A
    Names
    HIV-1 1st-binding protein 1
    HIV-1 inducer of short transcripts binding protein
    POK erythroid myeloid ontogenic factor
    POZ and Krueppel erythroid myeloid ontogenic factor
    TTF-I-interacting peptide 21
    factor binding IST protein 1
    factor that binds to inducer of short transcripts protein 1
    leukemia/lymphoma-related factor
    lymphoma related factor
    pokemon 1
    zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein
    zinc finger protein 857A

    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_001317990.2 → NP_001304919.1  zinc finger and BTB domain-containing protein 7A

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC016586, BC084568, DB495635
      Consensus CDS
      CCDS12119.1
      UniProtKB/Swiss-Prot
      D6W619, O00456, O95365, Q14D41, Q5XG86
      Related
      ENSP00000471865.1, ENST00000601588.1
      Conserved Domains (3) summary
      sd00017
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18326
      Location:9 → 128
      BTB_POZ_ZBTB7A; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 7A (ZBTB7A)
      pfam13465
      Location:425 → 449
      zf-H2C2_2; Zinc-finger double domain

    2. NM_015898.4 → NP_056982.1  zinc finger and BTB domain-containing protein 7A

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC016586, BC084568
      Consensus CDS
      CCDS12119.1
      UniProtKB/Swiss-Prot
      D6W619, O00456, O95365, Q14D41, Q5XG86
      Related
      ENSP00000323670.3, ENST00000322357.9
      Conserved Domains (3) summary
      sd00017
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18326
      Location:9 → 128
      BTB_POZ_ZBTB7A; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 7A (ZBTB7A)
      pfam13465
      Location:425 → 449
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      4043303..4066899 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259571.5 → XP_005259628.1  zinc finger and BTB domain-containing protein 7A isoform X2

      UniProtKB/Swiss-Prot
      D6W619, O00456, O95365, Q14D41, Q5XG86
      Conserved Domains (3) summary
      sd00017
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18326
      Location:9 → 128
      BTB_POZ_ZBTB7A; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 7A (ZBTB7A)
      pfam13465
      Location:425 → 449
      zf-H2C2_2; Zinc-finger double domain

    2. XM_005259570.6 → XP_005259627.3  zinc finger and BTB domain-containing protein 7A isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      4026415..4050025 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321176.1 → XP_054177151.1  zinc finger and BTB domain-containing protein 7A isoform X2

      UniProtKB/Swiss-Prot
      D6W619, O00456, O95365, Q14D41, Q5XG86

    2. XM_054321175.1 → XP_054177150.1  zinc finger and BTB domain-containing protein 7A isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020224.1: Suppressed sequence

      Description
      NM_020224.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95365.1 GenPept UniProtKB/Swiss-Prot:O95365

    Gene LinkOut

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

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