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

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: 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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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

D11S2921 (e-PCR)
- UniSTS:152074

NoName (e-PCR)
- UniSTS:9484

GDB:434012 (e-PCR)
- UniSTS:157204

D10S275 (e-PCR)
- UniSTS:147992

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

D8S2282 (e-PCR)
- UniSTS:473910

D10S2448 (e-PCR)
- UniSTS:474444

L17796 (e-PCR)
- UniSTS:12896

G64793 (e-PCR)
- UniSTS:164713

D15S1477 (e-PCR)
- UniSTS:474482

RH80030 (e-PCR)
- UniSTS:87680

D11S3114 (e-PCR)
- UniSTS:152207

D11S2612 (e-PCR)
- UniSTS:70572

D1S1270 (e-PCR)
- UniSTS:149467

GDB:631802 (e-PCR)
- UniSTS:158429

D5S1597E (e-PCR)
- UniSTS:151019

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)

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
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

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

32539427..32605941

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.