ZBTB33 zinc finger and BTB domain containing 33 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZBTB33provided by HGNC
Official Full Name: zinc finger and BTB domain containing 33provided by HGNC
Primary source: HGNC:HGNC:16682
See related: Ensembl:ENSG00000177485 MIM:300329; AllianceGenome:HGNC:16682
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ZNF348; ZNF-kaiso
Summary: This gene encodes a transcriptional regulator with bimodal DNA-binding specificity, which binds to methylated CGCG and also to the non-methylated consensus KAISO-binding site TCCTGCNA. The protein contains an N-terminal POZ/BTB domain and 3 C-terminal zinc finger motifs. It recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. It may contribute to the repression of target genes of the Wnt signaling pathway, and may also activate transcription of a subset of target genes by the recruitment of catenin delta-2 (CTNND2). Its interaction with catenin delta-1 (CTNND1) inhibits binding to both methylated and non-methylated DNA. It also interacts directly with the nuclear import receptor Importin-α2 (also known as karyopherin alpha2 or RAG cohort 1), which may mediate nuclear import of this protein. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, May 2010]
Expression: Ubiquitous expression in skin (RPKM 10.2), bone marrow (RPKM 8.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq24

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (120250812..120258398)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (118625869..118633458)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (119384667..119392253)

Chromosome X - NC_000023.11 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 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?

Expressional variations of Kaiso: an association with pathological characteristics and field cancerization of OSCC.
Title: Expressional variations of Kaiso: an association with pathological characteristics and field cancerization of OSCC.
Kaiso phosphorylation at threonine 606 leads to its accumulation in the cytoplasm, reducing its transcriptional repression of the tumour suppressor CDH1.
Title: Kaiso phosphorylation at threonine 606 leads to its accumulation in the cytoplasm, reducing its transcriptional repression of the tumour suppressor CDH1.
A Conformational Switch in the Zinc Finger Protein Kaiso Mediates Differential Readout of Specific and Methylated DNA Sequences.
Title: A Conformational Switch in the Zinc Finger Protein Kaiso Mediates Differential Readout of Specific and Methylated DNA Sequences.
The critical apoptosis regulator KAISO is a p53 target gene that is differently regulated by phosphorylated p53 or acetylated p53, depending on DNA damage responses stage.
Title: Temporal and differential regulation of KAISO-controlled transcription by phosphorylated and acetylated p53 highlights a crucial regulatory role of apoptosis.
Kaiso plays a role in regulating intestinal epithelial cell integrity and function
Title: Kaiso-induced intestinal inflammation is preceded by diminished E-cadherin expression and intestinal integrity.
Kaiso modifies MTG16-driven inflammation and tumorigenesis; this suggests that Kaiso deregulation contributes to MTG16-dependent colitis and Colitis-associated carcinoma phenotypes.
Title: Kaiso is required for MTG16-dependent effects on colitis-associated carcinoma.
EGFR-Kaiso signaling axis is a critical regulator of the miR-200-ZEB1 feedback loop promoting epithelial to mesenchymal transition and metastasis in prostate cancer.
Title: Transcriptional repressor Kaiso promotes epithelial to mesenchymal transition and metastasis in prostate cancer through direct regulation of miR-200c.
Genomic editing of Kaiso by conversion of K42 into R42 (K42R) in HEK293 cells that resulted in fully deSUMOylated endogenous protein led to misregulation of genes associated with ion transport, blood pressure, and the immune response.
Title: DeSUMOylation switches Kaiso from activator to repressor upon hyperosmotic stress.
that Kaiso can inhibit endothelial apoptosis via differentially regulating expression of BCL2, BAX, and BIK and that methylated DNA and specific Kaiso binding site (KBS) contribute to the gene regulatory activity of Kaiso.
Title: Kaiso protects human umbilical vein endothelial cells against apoptosis by differentially regulating the expression of B-cell CLL/lymphoma 2 family members.
The level of miR-4262 was found to be significantly decreased in CC tissues and cell lines. Moreover, decreased expression of miR-4262 was closely related to increased expression of Kaiso (ZBTB33).
Title: Upregulation of MicroRNA-4262 Targets Kaiso (ZBTB33) to Inhibit the Proliferation and EMT of Cervical Cancer Cells.

Submit: New GeneRIF Correction See all GeneRIFs (53)

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

AL008944 (e-PCR)
- UniSTS:71182

RH78409 (e-PCR)
- UniSTS:28943

RH47097 (e-PCR)
- UniSTS:83773

SHGC-30611 (e-PCR)
- UniSTS:3154

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
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 methyl-CpG binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	TAS Traceable Author Statement 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 transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
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

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	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
located_in nucleus	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: transcriptional regulator Kaiso

Names: WUGSC:H_DJ525N14.1; kaiso transcription factor; zinc finger and BTB domain-containing protein 33

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.

Genomic

NG_021334.1 RefSeqGene

Range

5061..12647

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001184742.2 → NP_001171671.1 transcriptional regulator Kaiso

See identical proteins and their annotated locations for NP_001171671.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC002086, AK312321, BC042753, DB468333

Consensus CDS

CCDS14596.1

UniProtKB/Swiss-Prot

B2R5U6, O00319, Q7Z361, Q86T24, Q8IVP6, Q8N3P0

Related

ENSP00000450969.1, ENST00000557385.2

Conserved Domains (4) summary

smart00225
Location:33 → 116

BTB; Broad-Complex, Tramtrack and Bric a brac

sd00017
Location:496 → 516

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00651
Location:22 → 116

BTB; BTB/POZ domain

pfam13465
Location:508 → 531

zf-H2C2_2; Zinc-finger double domain
NM_006777.4 → NP_006768.1 transcriptional regulator Kaiso

See identical proteins and their annotated locations for NP_006768.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' UTR, as compared to variant 1.

Source sequence(s)

AC002086, BC042753, BX538016

Consensus CDS

CCDS14596.1

UniProtKB/Swiss-Prot

B2R5U6, O00319, Q7Z361, Q86T24, Q8IVP6, Q8N3P0

Related

ENSP00000314153.2, ENST00000326624.2

Conserved Domains (4) summary

smart00225
Location:33 → 116

BTB; Broad-Complex, Tramtrack and Bric a brac

sd00017
Location:496 → 516

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00651
Location:22 → 116

BTB; BTB/POZ domain

pfam13465
Location:508 → 531

zf-H2C2_2; Zinc-finger double domain