ZNF451: Zinc Finger Protein 451 – A Key Regulator in SUMOylation and DNA Repair
Comprehensive genomic and proteomic overview of ZNF451, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | ZNF451 |
|---|---|
| Full Name | zinc finger protein 451 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p12.1 |
| NCBI Gene ID | 26036 ncbi.nlm.nih.gov/gene/26036 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q9Y4E5 |
| OMIM ID | 617533 |
| HGNC ID | 21011 |
| Aliases | FLJ12529, ZNF451a, ZNF451b |
Description
ZNF451 (zinc finger protein 451) encodes a protein that functions as a SUMO E3 ligase and plays a critical role in SUMOylation, a post-translational modification involved in DNA repair, transcriptional regulation, and chromatin remodeling. The gene is located on chromosome 6p12.1 and is expressed in multiple tissues. ZNF451 has been implicated in cancer and other diseases through its regulatory functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Altered SUMOylation of DNA repair proteins | COSMIC mutation data |
| Breast cancer | Dysregulation of ZNF451 expression affecting DNA damage response | ClinVar and literature |
| Colorectal cancer | ZNF451 mutations linked to genomic instability | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.7 | Low |
| Liver | 5.1 | Low |
| Kidney | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | High expression in embryonic kidney cells |
| HeLa | 8.9 | Moderate expression in cervical cancer cells |
| MCF7 | 7.5 | Moderate expression in breast cancer cells |
| A549 | 6.1 | Low expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Pro412Ser – potential loss of SUMO ligase activity |
| c.567_568insA | Frameshift | 0.01% | Truncation – likely loss of function |
| c.890G>A | Nonsense | 0.005% | p.Trp297* – premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in ZNF451 are predicted to truncate the protein, impairing its SUMO E3 ligase activity and disrupting DNA repair pathways.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ZNF451 in curated databases.
Dominant Negative (DN)
Missense mutations in the catalytic domain may produce a dominant-negative effect by competing with wild-type ZNF451 for substrate binding.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • protein SUMOylation (GO:0016925) | • DNA repair (GO:0006281) |
| • DNA binding (GO:0003677) |
Pathways
• SUMOylation pathway
• DNA damage response (DDR)
• p53 signaling pathway (via SUMOylation regulation)
Protein Summary
ZNF451 is a 1067-amino acid protein containing multiple zinc finger domains and a SUMO-interacting motif. It acts as a SUMO E3 ligase, facilitating the attachment of SUMO proteins to target substrates, thereby regulating DNA repair, transcription, and chromatin dynamics. The protein is predominantly nuclear and is expressed in various tissues, with highest levels in testis. Dysregulation of ZNF451 is associated with cancer and genomic instability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF451 Knockout HEK293 Cell Line | EDJ-KQ8364 | Human | 26036 | Details Get a Quote |
| ZNF451 Knockout A-549 Cell Line | EDJ-KQ34400 | Human | 26036 | Details Get a Quote |
| ZNF451 Knockout HCT 116 Cell Line | EDJ-KQ34401 | Human | 26036 | Details Get a Quote |
| ZNF451 Knockout HeLa Cell Line | EDJ-KQ34402 | Human | 26036 | Details Get a Quote |
