ZBTB1
Zinc Finger and BTB Domain Containing 1
Gene Information Card
| Symbol | ZBTB1 |
|---|---|
| Full Name | Zinc Finger and BTB Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q23.3 |
| NCBI Gene ID | 22890 ncbi.nlm.nih.gov/gene/22890 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q9Y2K1 |
| OMIM ID | 617830 |
| HGNC ID | 20259 |
| Aliases | ZNF909, KIAA0992 |
Description
ZBTB1 (Zinc Finger and BTB Domain Containing 1) is a protein-coding gene that encodes a transcription factor involved in the regulation of gene expression. It belongs to the POK (POZ and Krüppel) family of zinc finger proteins, characterized by an N-terminal BTB/POZ domain and C-terminal C2H2 zinc finger motifs. ZBTB1 plays a role in DNA repair, cell cycle control, and lymphocyte development. It is implicated in several cancers and primary immunodeficiency disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute lymphoblastic leukemia | ZBTB1 mutations may impair DNA repair and promote genomic instability | COSMIC, ClinVar |
| Breast cancer | Altered expression and somatic mutations reported | COSMIC |
| Primary immunodeficiency with T-cell deficiency | Loss-of-function mutations disrupt lymphocyte development | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Testis | 6.7 | Low |
| Brain | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HeLa (cervical cancer) | 9.8 | Medium expression |
| HEK293 (embryonic kidney) | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Ter) | Nonsense | Rare | Loss of function; associated with T-cell deficiency |
| c.1456G>A (p.Glu486Lys) | Missense | 0.01% | Unknown functional effect |
| c.789_790insA (p.Glu264ArgfsTer12) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ZBTB1 lead to truncated proteins and loss of transcriptional repressor activity, impairing lymphocyte development and DNA repair.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ZBTB1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ZBTB1.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • protein homodimerization activity |
| • regulation of transcription by RNA polymerase II | • DNA repair |
| • cell cycle |
Pathways
• DNA damage response
• p53 signaling pathway
• Lymphocyte development
Protein Summary
ZBTB1 is a 748-amino acid protein containing a BTB/POZ domain at the N-terminus and six C2H2 zinc finger motifs at the C-terminus. It functions as a transcriptional repressor by recruiting histone deacetylase complexes. ZBTB1 is involved in the maintenance of genomic stability through its role in homologous recombination repair. It is essential for normal T-cell and B-cell development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZBTB16 Knockout HEK293 Cell Line | EDJ-KQ2480 | Human | 7704 | Details Get a Quote |
| ZBTB14 Knockout HEK293 Cell Line | EDJ-KQ6022 | Human | 7541 | Details Get a Quote |
| ZBTB18 Knockout HEK293 Cell Line | EDJ-KQ7054 | Human | 10472 | Details Get a Quote |
| ZBTB1 Knockout HEK293 Cell Line | EDJ-KQ7720 | Human | 22890 | Details Get a Quote |
| ZBTB12 Knockout HEK293 Cell Line | EDJ-KQ8845 | Human | 221527 | Details Get a Quote |
| ZBTB10 Knockout HEK293 Cell Line | EDJ-KQ16184 | Human | 65986 | Details Get a Quote |
| ZBTB1 Knockout A-549 Cell Line | EDJ-KQ33133 | Human | 22890 | Details Get a Quote |
| ZBTB1 Knockout HCT 116 Cell Line | EDJ-KQ33134 | Human | 22890 | Details Get a Quote |
| ZBTB1 Knockout HeLa Cell Line | EDJ-KQ33135 | Human | 22890 | Details Get a Quote |
| ZBTB12 Knockout A-549 Cell Line | EDJ-KQ35155 | Human | 221527 | Details Get a Quote |
| ZBTB12 Knockout HCT 116 Cell Line | EDJ-KQ35156 | Human | 221527 | Details Get a Quote |
| ZBTB12 Knockout HeLa Cell Line | EDJ-KQ35157 | Human | 221527 | Details Get a Quote |
| ZBTB14 Knockout A-549 Cell Line | EDJ-KQ29643 | Human | 7541 | Details Get a Quote |
| ZBTB14 Knockout HCT 116 Cell Line | EDJ-KQ29644 | Human | 7541 | Details Get a Quote |
| ZBTB14 Knockout HeLa Cell Line | EDJ-KQ29645 | Human | 7541 | Details Get a Quote |
Displaying Records 1 To 15 Of 24 Records
