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

    Gene ID: 653121, updated on 5-Mar-2024

    Summary

    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
    Predicted to enable RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in endometrium (RPKM 3.1), thyroid (RPKM 2.7) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ZBTB8A in Genome Data Viewer
    Location:
    1p35.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (32539427..32605941)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (32397348..32464729)
    105.20220307 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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: ZBTB8B

    Clone Names

    • FLJ90065, MGC17919

    General protein information

    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_001040441.3NP_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:25122
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:282335
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:284304
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:14119
      BTB; BTB/POZ domain
      pfam13465
      Location:296321
      zf-H2C2_2; Zinc-finger double domain
    2. NM_001291496.2NP_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:25122
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00017
      Location:284304
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:14119
      BTB; BTB/POZ domain
      pfam13465
      Location:296321
      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_2023_10

    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.