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    ZBTB8A zinc finger and BTB domain containing 8A [ Homo sapiens (human) ]

    Gene ID: 653121, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZBTB8Aprovided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 8Aprovided by HGNC
    Primary source
    HGNC:HGNC:24172
    See related
    Ensembl:ENSG00000160062 MIM:618742; AllianceGenome:HGNC:24172
    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
    BOZF1; ZBTB8; ZNF916A
    Summary
    Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II-specific DNA-binding transcription factor binding activity; and transcription coactivator binding activity. Involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 3.1), thyroid (RPKM 2.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB8A in Genome Data Viewer
    Location:
    1p35.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (32539427..32605941)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (32397348..32464729)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (33005028..33071542)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 122, pseudogene Neighboring gene zinc finger and BTB domain containing 8B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 601 Neighboring gene uncharacterized LOC124903952 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:33013203-33013387 Neighboring gene MPRA-validated peak165 silencer Neighboring gene MPRA-validated peak166 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:33072181-33072681 Neighboring gene uncharacterized LOC102723870 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:33077607-33078108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 694 Neighboring gene zinc finger and BTB domain containing 8 opposite strand Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33107487-33108246 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33108247-33109005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 695 Neighboring gene hESC enhancers GRCh37_chr1:33116021-33116608 and GRCh37_chr1:33116609-33117197

    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. Regulation of the cyclin-dependent kinase inhibitor 1A gene (CDKN1A) by the repressor BOZF1 through inhibition of p53 acetylation and transcription factor Sp1 binding. Kim MK, et al. J Biol Chem, 2013 Mar 8. PMID 23329847, Free PMC Article
    2. The consensus coding sequences of human breast and colorectal cancers. Sjöblom T, et al. Science, 2006 Oct 13. PMID 16959974
    3. Mapping the interactome of HPV E6 and E7 oncoproteins with the ubiquitin-proteasome system. Poirson J, et al. FEBS J, 2017 Oct. PMID 28786561
    4. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Yang X, et al. Cell, 2016 Feb 11. PMID 26871637, Free PMC Article
    5. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data indicate BOZF1 represses transcription of CDKN1A by inhibition of p53 acetylation and Sp1 binding.
      Title: Regulation of the cyclin-dependent kinase inhibitor 1A gene (CDKN1A) by the repressor BOZF1 through inhibition of p53 acetylation and transcription factor Sp1 binding.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Potential readthrough

    Included gene: ZBTB8B

    Homology

    Clone Names

    • FLJ90065, MGC17919

    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-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription coactivator binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 8A
    Names
    BTB/POZ and zinc-finger domain-containing factor
    BTB/POZ and zinc-finger domains factor on chromosome 1
    zinc finger and BTB domain containing 8

    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_001040441.3 → NP_001035531.2  zinc finger and BTB domain-containing protein 8A isoform 1

      See identical proteins and their annotated locations for NP_001035531.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL033529, BC015239, DA530035
      Consensus CDS
      CCDS30664.1
      UniProtKB/Swiss-Prot
      Q8IUL5, Q8IWR9, Q8N2Y5, Q96BR9, Q96BX0
      Related
      ENSP00000362609.3, ENST00000373510.9
      Conserved Domains (5) summary
      smart00225
      Location:25 → 122
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:282 → 335
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:284 → 304
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:14 → 119
      BTB; BTB/POZ domain
      pfam13465
      Location:296 → 321
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001291496.2 → NP_001278425.1  zinc finger and BTB domain-containing protein 8A isoform 2

      See identical proteins and their annotated locations for NP_001278425.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL033529, AY157873, BQ723271, DA530035
      Consensus CDS
      CCDS76133.1
      UniProtKB/TrEMBL
      A0A9K3Y7J5, D3DPQ1, F8W7Q7
      Related
      ENSP00000317561.4, ENST00000316459.4
      Conserved Domains (4) summary
      smart00225
      Location:25 → 122
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00017
      Location:284 → 304
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:14 → 119
      BTB; BTB/POZ domain
      pfam13465
      Location:296 → 321
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_111980.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an internal exon and uses an alternate splice site at the 3' terminal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AL033529, DA530035, HY034825, KF495898

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      32539427..32605941
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      32397348..32464729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_144621.2: Suppressed sequence

      Description
      NM_144621.2: This RefSeq was permanently suppressed becauses it is a nonsense-mediated mRNA decay (NMD) candidate and represents a read-through transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BR9.3 GenPept UniProtKB/Swiss-Prot:Q96BR9

    Gene LinkOut

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

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