PARP4: Poly(ADP-Ribose) Polymerase Family Member 4
A key player in DNA damage repair and cellular stress response, with implications in cancer susceptibility and genomic stability.
Gene Information Card
| Symbol | PARP4 |
|---|---|
| Full Name | Poly(ADP-Ribose) Polymerase Family Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q11 |
| NCBI Gene ID | 143 ncbi.nlm.nih.gov/gene/143 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q9UKK3 |
| OMIM ID | 607452 |
| HGNC ID | 271 |
| Aliases | ADPRT4, ARTD4, PARP-4, p193 |
Description
PARP4 encodes poly(ADP-ribose) polymerase 4, a member of the PARP enzyme family that catalyzes poly(ADP-ribosyl)ation, a post-translational modification involved in DNA damage repair, chromatin remodeling, and regulation of transcription. PARP4 is localized to the cytoplasm and nucleus, and it interacts with vault particles, large ribonucleoprotein complexes implicated in multidrug resistance and cellular transport. The gene is associated with susceptibility to various cancers, including breast, ovarian, and lung cancer, and its mutations may contribute to genomic instability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | PARP4 mutations may impair DNA repair, leading to accumulation of genomic damage and increased cancer risk. | ClinVar, COSMIC |
| Ovarian Cancer | Loss-of-function variants in PARP4 are associated with hereditary ovarian cancer susceptibility. | ClinVar, OMIM |
| Lung Cancer | Somatic mutations and altered expression of PARP4 have been observed in non-small cell lung cancer. | COSMIC |
| Pancreatic Cancer | PARP4 germline mutations are reported in familial pancreatic cancer cases. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Ovary | 5.4 | Low |
| Pancreas | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| MCF7 | 5.6 | Breast cancer cells |
| A549 | 4.9 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2270G>A (p.Arg757His) | Missense | 0.01% | Reduced catalytic activity; associated with breast cancer risk |
| c.3130C>T (p.Arg1044*) | Nonsense | 0.005% | Loss of function; truncation; linked to ovarian cancer |
| c.1234delA (p.Thr412fs) | Frameshift | 0.002% | Loss of function; frameshift; reported in pancreatic cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg1044*, p.Thr412fs) lead to truncated or unstable protein, impairing DNA repair and increasing cancer susceptibility.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PARP4.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg757His) may act in a dominant-negative manner by interfering with wild-type PARP4 function in DNA repair complexes.
View complete mutation data：
Gene Ontology (GO)
| • NAD+ ADP-ribosyltransferase activity (GO:0003950) | • double-strand break repair (GO:0006302) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • vault complex (GO:0070210) |
Pathways
• DNA Damage Repair (PARP-dependent)
• Vault Complex Assembly and Function
Protein Summary
PARP4 (UniProt Q9UKK3) is a 1,724-amino acid protein with a molecular weight of approximately 193 kDa. It contains a PARP catalytic domain that transfers ADP-ribose from NAD+ to target proteins. PARP4 is a component of the vault complex, where it may regulate cellular transport and drug resistance. The protein is expressed in multiple tissues, with highest levels in testis, and is involved in DNA repair pathways. Mutations in PARP4 are linked to hereditary cancer syndromes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PARP4 Knockout HEK293 Cell Line | EDJ-KQ4014 | Human | 143 | Details Get a Quote |
| PARP4 Knockout A-549 Cell Line | EDJ-KQ25001 | Human | 143 | Details Get a Quote |
| PARP4 Knockout HCT 116 Cell Line | EDJ-KQ26341 | Human | 143 | Details Get a Quote |
| PARP4 Knockout HeLa Cell Line | EDJ-KQ26342 | Human | 143 | Details Get a Quote |
