ZBTB48
Zinc Finger and BTB Domain Containing 48
Gene Information Card
| Symbol | ZBTB48 |
|---|---|
| Full Name | Zinc Finger and BTB Domain Containing 48 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 3104 ncbi.nlm.nih.gov/gene/3104 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | P10074 |
| OMIM ID | 604423 |
| HGNC ID | 12830 |
| Aliases | HKR3, ZNF855, TZFP |
Description
ZBTB48 (Zinc Finger and BTB Domain Containing 48) is a protein-coding gene that encodes a transcription factor belonging to the Krüppel-like zinc finger protein family. It contains an N-terminal BTB (POZ) domain and multiple C-terminal C2H2 zinc finger motifs. ZBTB48 functions as a transcriptional repressor and is involved in telomere maintenance, chromatin regulation, and cell cycle control. It is also known as HKR3 (human Krüppel-related 3) and TZFP (telomeric zinc finger protein).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | ZBTB48 mutations and altered expression may contribute to oncogenesis through dysregulation of telomere homeostasis and transcriptional targets. | COSMIC; ClinVar |
| Telomere-related disorders | ZBTB48 binds telomeric DNA and regulates telomere length; variants may affect telomere stability. | UniProt; NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Brain | 6.1 | Low |
| Lung | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney |
| HeLa | 7.4 | Cervical carcinoma |
| K562 | 6.9 | Leukemia |
| A549 | 5.2 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334Ter) | Nonsense | <0.1% | Loss of function; truncation of zinc finger domains |
| c.1456G>A (p.Gly486Arg) | Missense | <0.1% | Unknown; predicted damaging by SIFT |
| c.1789_1790insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ZBTB48 are predicted to cause loss of function, impairing transcriptional repression and telomere binding.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ZBTB48.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ZBTB48.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • chromatin binding | • telomeric DNA binding |
| • protein homodimerization activity | • negative regulation of transcription by RNA polymerase II |
| • regulation of telomere maintenance |
Pathways
• Telomere maintenance
• Transcriptional regulation by ZBTB48
Protein Summary
ZBTB48 is a 544-amino acid protein with a BTB domain at the N-terminus and 12 C2H2 zinc fingers at the C-terminus. It localizes to the nucleus and binds telomeric DNA repeats, functioning as a transcriptional repressor. The protein is involved in telomere length regulation and chromatin organization. Alternative splicing generates multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZBTB48 Knockout HEK293 Cell Line | EDJ-KQ4072 | Human | 3104 | Details Get a Quote |
| ZBTB48 Knockout A-549 Cell Line | EDJ-KQ27651 | Human | 3104 | Details Get a Quote |
| ZBTB48 Knockout HCT 116 Cell Line | EDJ-KQ27653 | Human | 3104 | Details Get a Quote |
| ZBTB48 Knockout HeLa Cell Line | EDJ-KQ27654 | Human | 3104 | Details Get a Quote |
