WAPL
WAPL Cohesin Release Factor
Gene Information Card
| Symbol | WAPL |
|---|---|
| Full Name | WAPL cohesin release factor |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.2 |
| NCBI Gene ID | 23067 ncbi.nlm.nih.gov/gene/23067 |
| Ensembl ID | ENSG00000070915 |
| UniProt ID | Q7Z5K2 |
| OMIM ID | 610754 |
| HGNC ID | 23272 |
| Aliases | WAPAL, FOE, KIAA0265 |
Description
WAPL (WAPL cohesin release factor) encodes a protein that regulates cohesin dynamics by promoting the release of cohesin from chromatin during interphase and prophase. It is essential for proper sister chromatid cohesion, chromosome segregation, and DNA repair. WAPL interacts with PDS5A and PDS5B to control cohesin loading and unloading, and its dysregulation is implicated in developmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cornelia de Lange syndrome (CdLS) | WAPL mutations disrupt cohesin release, leading to altered gene expression and developmental defects. | ClinVar, OMIM |
| Breast cancer | WAPL overexpression promotes genomic instability and tumor progression by increasing cohesin turnover. | COSMIC, NCBI |
| Colorectal cancer | Somatic mutations in WAPL are associated with chromosomal instability and poor prognosis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Bone marrow | 8.2 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 12.8 | High expression |
| MCF7 | 10.5 | Medium expression |
| HCT116 | 9.1 | Medium expression |
| K562 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.205C>T (p.Arg69Trp) | Missense | Rare | Loss of cohesin release function; associated with CdLS |
| c.1234G>A (p.Glu412Lys) | Missense | Rare | Impaired PDS5 binding; reduced cohesin unloading |
| c.1567_1568insA (p.Thr523Asnfs*2) | Frameshift | Very rare | Truncation; loss of function; CdLS |
| Amplification | Copy number gain | Common in breast cancer | Overexpression; increased cohesin turnover; genomic instability |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations (e.g., p.Arg69Trp, p.Thr523Asnfs*2) impair cohesin release, leading to cohesion defects and developmental disorders like Cornelia de Lange syndrome.
Gain of Function (GOF)
Gene amplification and overexpression in cancers enhance cohesin unloading, promoting chromosomal instability and tumor progression.
Dominant Negative (DN)
Some missense variants (e.g., p.Glu412Lys) may interfere with wild-type WAPL function by disrupting PDS5 interaction, reducing cohesin release efficiency.
View complete mutation data：
Gene Ontology (GO)
| • sister chromatid cohesion | • chromatin binding |
| • protein heterodimerization activity | • mitotic sister chromatid separation |
| • regulation of chromosome segregation | • nucleus |
Pathways
• Cohesin loading and unloading
• Cell cycle
• mitotic
• Chromosome maintenance
Protein Summary
WAPL is a 1190-amino-acid protein that functions as a cohesin release factor. It contains HEAT repeats and interacts with PDS5 proteins to mediate the removal of cohesin from chromatin. This process is critical for establishing proper sister chromatid cohesion during S phase and for resolving cohesion during mitosis. WAPL also participates in DNA double-strand break repair by facilitating cohesin reloading. Its dysregulation contributes to aneuploidy and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WAPL Knockout HEK293 Cell Line | EDJ-KQ7818 | Human | 23063 | Details Get a Quote |
| WAPL Knockout A-549 Cell Line | EDJ-KQ33347 | Human | 23063 | Details Get a Quote |
| WAPL Knockout HCT 116 Cell Line | EDJ-KQ33348 | Human | 23063 | Details Get a Quote |
| WAPL Knockout HeLa Cell Line | EDJ-KQ33349 | Human | 23063 | Details Get a Quote |
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