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

Gene ID: 653121, updated on 5-Mar-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
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

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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

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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)

Genotypes

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_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.
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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