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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]
ZBTB33 (Zinc Finger And BTB Domain Containing 33) is a Protein Coding gene. Diseases associated with ZBTB33 include Rett Syndrome and Prostate Transitional Cell Carcinoma. Among its related pathways are Wnt Signaling Pathway and Pluripotency. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and methyl-CpG binding. An important paralog of this gene is ZBTB21.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 16354688 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | TAS | 10207085 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Wnt Signaling Pathway and Pluripotency |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006357 | regulation of transcription by RNA polymerase II | IEA,IBA | 21873635 |
GO:0016055 | Wnt signaling pathway | IEA | -- |
GO:0035556 | intracellular signal transduction | TAS | 10207085 |
GO:0045892 | negative regulation of transcription, DNA-templated | IMP | 23251453 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZBTB33 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MGC155143 31 |
|
OneToOne | |
ZBTB33 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | ZBTB33 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Zbtb33 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Zbtb33 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ZBTB33 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ZBTB33 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ZBTB33 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ZBTB33 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | zbtb33 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Kaiso 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zbtb33 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
781643 | Benign: not provided | 120,255,288(+) | C/A | MISSENSE_VARIANT | |
783911 | Benign: not provided | 120,254,091(+) | A/G | MISSENSE_VARIANT | |
rs1057518570 | Uncertain Significance: not specified | 120,253,452(+) | C/G | MISSENSE_VARIANT | |
rs143114425 | Uncertain Significance: not provided | 120,254,068(+) | A/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
rett syndrome |
|
|
prostate transitional cell carcinoma |
|
|
cri-du-chat syndrome |
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome |
|
|