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

Summary

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; 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. Colocalizes with DNA-dependent protein kinase complex and NuRD complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in colon (RPKM 8.0), stomach (RPKM 5.5) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19p13.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (4043303..4066899, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (4026415..4050025, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (4043301..4066897, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
ZBTB7A as a novel vulnerability in neuroendocrine prostate cancer.
Title: ZBTB7A as a novel vulnerability in neuroendocrine prostate cancer.
ZBTB7A suppresses glioblastoma tumorigenesis through the transcriptional repression of EPB41L5.
Title: ZBTB7A suppresses glioblastoma tumorigenesis through the transcriptional repression of EPB41L5.
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.
ZBTB7A promotes virus-host homeostasis during human coronavirus 229E infection.
Title: ZBTB7A promotes virus-host homeostasis during human coronavirus 229E infection.
FBI-1 inhibits epithelial-to-mesenchymal transition, migration, and invasion in lung adenocarcinoma A549 cells by downregulating transforming growth factor-beta1 signaling pathway.
Title: FBI-1 inhibits epithelial-to-mesenchymal transition, migration, and invasion in lung adenocarcinoma A549 cells by downregulating transforming growth factor-β1 signaling pathway.
LRF Promotes Indirectly Advantageous Chromatin Conformation via BGLT3-lncRNA Expression and Switch from Fetal to Adult Hemoglobin.
Title: LRF Promotes Indirectly Advantageous Chromatin Conformation via BGLT3-lncRNA Expression and Switch from Fetal to Adult Hemoglobin.

Submit: New GeneRIF Correction See all GeneRIFs (109)

Phenotypes

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

A006W32 (e-PCR)
- UniSTS:60674

RH47736 (e-PCR)
- UniSTS:2691

MARC_21177-21178:1027091454:1 (e-PCR)
- UniSTS:268502

STS-R06252 (e-PCR)
- UniSTS:31198

RH79859 (e-PCR)
- UniSTS:83687

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

Go to the top of the page Help

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)

Go to the top of the page Help

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)

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

See identical proteins and their annotated locations for NP_056982.1

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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

4043303..4066899 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for XP_005259628.1

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

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

4026415..4050025 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

D6W619, O00456, O95365, Q14D41, Q5XG86
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

NM_020224.1: Suppressed sequence

Description

NM_020224.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.