ZBTB1 zinc finger and BTB domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZBTB1provided by HGNC
Official Full Name: zinc finger and BTB domain containing 1provided by HGNC
Primary source: HGNC:HGNC:20259
See related: Ensembl:ENSG00000126804 MIM:616578; AllianceGenome:HGNC:20259
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: ZNF909
Summary: Enables K63-linked polyubiquitin modification-dependent protein binding activity; protein heterodimerization activity; and protein homodimerization activity. Involved in several processes, including cellular response to UV; nucleobase-containing compound biosynthetic process; and protein homooligomerization. Located in centrosome; nuclear body; and nuclear membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bone marrow (RPKM 14.1), lymph node (RPKM 11.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q23.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (64503716..64533693)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (58711422..58741460)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (64971488..65000411)

Chromosome 14 - NC_000014.9 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?

Circ_0000442 functions as a tumor repressor in breast cancer by impacting miR-1229-3p and upregulating ZBTB1.
Title: Circ_0000442 functions as a tumor repressor in breast cancer by impacting miR-1229-3p and upregulating ZBTB1.
Preliminary analysis of the expression of ZBTB1 in human pancreatic carcinoma.
Title: Preliminary analysis of the expression of ZBTB1 in human pancreatic carcinoma.
ZBTB1 Regulates Asparagine Synthesis and Leukemia Cell Response to L-Asparaginase.
Title: ZBTB1 Regulates Asparagine Synthesis and Leukemia Cell Response to L-Asparaginase.
A novel tumor suppressor ZBTB1 regulates tamoxifen resistance and aerobic glycolysis through suppressing HER2 expression in breast cancer.
Title: A novel tumor suppressor ZBTB1 regulates tamoxifen resistance and aerobic glycolysis through suppressing HER2 expression in breast cancer.
ZBTB1 is required for localizing phospho-KAP-1 to chromatin and enhancing RAD18 accessibility during chromatin remodeling/DNA repair.
Title: Transcriptional repressor ZBTB1 promotes chromatin remodeling and translesion DNA synthesis.
ZBTB1 protein may act as a transcription repressor in the activation of CREB and cAMP-mediated signal transduction pathways to mediate cellular functions.
Title: Novel human BTB/POZ domain-containing zinc finger protein ZBTB1 inhibits transcriptional activities of CRE.

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

RH94359 (e-PCR)
- UniSTS:84520

D14S1339 (e-PCR)
- UniSTS:79413

A007C14 (e-PCR)
- UniSTS:1869

D14S1194 (e-PCR)
- UniSTS:6244

STS-AA019734 (e-PCR)
- UniSTS:70762

Zbtb1 (e-PCR), detects polymorphism
- UniSTS:515988

AF005211 (e-PCR)
- UniSTS:74203

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables K63-linked polyubiquitin modification-dependent protein binding	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 metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in mRNA transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T cell mediated immunity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of natural killer cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of pro-T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cytokine production	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of immune system process	IBA Inferred from Biological aspect of Ancestor more info
involved_in thymus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in translesion synthesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nuclear body	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc finger and BTB domain-containing protein 1

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_001123329.2 → NP_001116801.1 zinc finger and BTB domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_001116801.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AW965994, BC050719, BM975910, BX248777

Consensus CDS

CCDS45126.1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1

UniProtKB/TrEMBL

Q5UW39

Related

ENSP00000506911.1, ENST00000683701.1

Conserved Domains (3) summary

sd00017
Location:580 → 600

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00020
Location:688 → 709

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18192
Location:3 → 116

BTB_POZ_ZBTB1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 1 (ZBTB1)
NM_014950.3 → NP_055765.2 zinc finger and BTB domain-containing protein 1 isoform 2

See identical proteins and their annotated locations for NP_055765.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains a distinct 3' coding region and 3' UTR, compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AB023214, AL049869, BX248777, CN362091

Consensus CDS

CCDS32097.1

UniProtKB/TrEMBL

Q5UW39

Related

ENSP00000351587.3, ENST00000358738.3

Conserved Domains (2) summary

sd00017
Location:536 → 574

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18192
Location:3 → 116

BTB_POZ_ZBTB1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 1 (ZBTB1)

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_000014.9 Reference GRCh38.p14 Primary Assembly

Range

64503716..64533693

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431111.1 → XP_047287067.1 zinc finger and BTB domain-containing protein 1 isoform X2
XM_047431093.1 → XP_047287049.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431095.1 → XP_047287051.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431098.1 → XP_047287054.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431091.1 → XP_047287047.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431106.1 → XP_047287062.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431100.1 → XP_047287056.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431107.1 → XP_047287063.1 zinc finger and BTB domain-containing protein 1 isoform X2
XM_047431092.1 → XP_047287048.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431088.1 → XP_047287044.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431102.1 → XP_047287058.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1

Related

ENSP00000451000.1, ENST00000554015.5
XM_047431086.1 → XP_047287042.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431096.1 → XP_047287052.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431090.1 → XP_047287046.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431104.1 → XP_047287060.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431097.1 → XP_047287053.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431087.1 → XP_047287043.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431108.1 → XP_047287064.1 zinc finger and BTB domain-containing protein 1 isoform X2
XM_047431110.1 → XP_047287066.1 zinc finger and BTB domain-containing protein 1 isoform X2
XM_047431103.1 → XP_047287059.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_005267410.2 → XP_005267467.1 zinc finger and BTB domain-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_005267467.1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1

UniProtKB/TrEMBL

Q5UW39

Conserved Domains (3) summary

sd00017
Location:580 → 600

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00020
Location:688 → 709

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18192
Location:3 → 116

BTB_POZ_ZBTB1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 1 (ZBTB1)
XM_017021095.2 → XP_016876584.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1

UniProtKB/TrEMBL

Q5UW39

Conserved Domains (3) summary

sd00017
Location:580 → 600

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00020
Location:688 → 709

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18192
Location:3 → 116

BTB_POZ_ZBTB1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 1 (ZBTB1)
XM_011536566.3 → XP_011534868.1 zinc finger and BTB domain-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_011534868.1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1

UniProtKB/TrEMBL

Q5UW39

Conserved Domains (3) summary

sd00017
Location:580 → 600

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00020
Location:688 → 709

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18192
Location:3 → 116

BTB_POZ_ZBTB1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 1 (ZBTB1)
XM_047431094.1 → XP_047287050.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431105.1 → XP_047287061.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_047431101.1 → XP_047287057.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

58711422..58741460

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054375589.1 → XP_054231564.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375602.1 → XP_054231577.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375591.1 → XP_054231566.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375587.1 → XP_054231562.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375595.1 → XP_054231570.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375586.1 → XP_054231561.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375600.1 → XP_054231575.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375593.1 → XP_054231568.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375594.1 → XP_054231569.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375607.1 → XP_054231582.1 zinc finger and BTB domain-containing protein 1 isoform X2
XM_054375582.1 → XP_054231557.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375584.1 → XP_054231559.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375581.1 → XP_054231556.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375604.1 → XP_054231579.1 zinc finger and BTB domain-containing protein 1 isoform X2
XM_054375588.1 → XP_054231563.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375592.1 → XP_054231567.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375598.1 → XP_054231573.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375599.1 → XP_054231574.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375605.1 → XP_054231580.1 zinc finger and BTB domain-containing protein 1 isoform X2
XM_054375603.1 → XP_054231578.1 zinc finger and BTB domain-containing protein 1 isoform X2
XM_054375606.1 → XP_054231581.1 zinc finger and BTB domain-containing protein 1 isoform X2
XM_054375583.1 → XP_054231558.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375597.1 → XP_054231572.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375585.1 → XP_054231560.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375590.1 → XP_054231565.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375601.1 → XP_054231576.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1
XM_054375596.1 → XP_054231571.1 zinc finger and BTB domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

A8K6S8, Q86SW8, Q9Y2K1