PWP1: PWP1 Homolog, Endonuclein
A gene encoding a nuclear protein involved in cell cycle regulation and ribosome biogenesis, with implications in cancer and developmental disorders.
Gene Information Card
| Symbol | PWP1 |
|---|---|
| Full Name | PWP1 homolog, endonuclein |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 11137 ncbi.nlm.nih.gov/gene/11137 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q13610 |
| OMIM ID | 608338 |
| HGNC ID | 17005 |
| Aliases | endonuclein, PWP1 homolog (S. cerevisiae) |
Description
PWP1 (PWP1 homolog, endonuclein) is a protein-coding gene located on chromosome 12q24.33. The encoded protein is a nuclear protein that contains WD40 repeats and is involved in cell cycle progression, ribosome biogenesis, and chromatin remodeling. It is ubiquitously expressed and has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Dysregulation of PWP1 expression may alter cell cycle control and ribosome biogenesis, promoting tumorigenesis. | COSMIC; literature |
| Developmental disorders | Mutations in PWP1 may disrupt nuclear functions, leading to developmental abnormalities. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 10.2 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 7.1 | Low |
| Liver | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 12.1 | Medium expression |
| K562 | 11.4 | Medium expression |
| A549 | 9.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Ala34Val) | Missense | <0.1% | Unknown; likely benign |
| c.452G>A (p.Arg151Gln) | Missense | <0.1% | Unknown; likely benign |
| c.788_789insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.788_789insA) are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleus | • WD40 repeat domain binding |
| • cell cycle | • ribosome biogenesis |
| • chromatin binding |
Pathways
• Ribosome biogenesis in eukaryotes
• Cell cycle
Protein Summary
The PWP1 protein (endonuclein) is a 446-amino acid nuclear protein containing WD40 repeats. It is involved in cell cycle regulation, ribosome biogenesis, and chromatin remodeling. It interacts with histones and other nuclear proteins to modulate gene expression and cellular proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PWP1 Knockout HEK293 Cell Line | EDJ-KQ51043 | Human | 11137 | Details Get a Quote |
| PWP1 Knockout HeLa Cell Line | EDJ-KQ55580 | Human | 11137 | Details Get a Quote |
| PWP1 Knockout A-549 Cell Line | EDJ-KQ64077 | Human | 11137 | Details Get a Quote |
| PWP1 Knockout HCT 116 Cell Line | EDJ-KQ72526 | Human | 11137 | Details Get a Quote |
