PDS5A
PDS5 cohesin associated factor A
Gene Information Card
| Symbol | PDS5A |
|---|---|
| Full Name | PDS5 cohesin associated factor A |
| Gene Type | protein-coding |
| Chromosomal Location | 4p14 |
| NCBI Gene ID | 23244 ncbi.nlm.nih.gov/gene/23244 |
| Ensembl ID | ENSG00000121892 |
| UniProt ID | Q29RF7 |
| OMIM ID | 613207 |
| HGNC ID | 29088 |
| Aliases | PDS5, SCC-112, KIAA0648, PIG54 |
Description
PDS5A encodes a protein that is a critical component of the cohesin complex, essential for sister chromatid cohesion, DNA repair, and gene regulation. It interacts with other cohesin subunits (SMC1A, SMC3, RAD21) and regulatory factors (WAPL, NIPBL) to control cohesin loading, unloading, and stability. PDS5A is involved in maintaining genomic stability and proper chromosome segregation during mitosis and meiosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cornelia de Lange Syndrome (CdLS) | PDS5A mutations disrupt cohesin complex function, leading to developmental defects characteristic of CdLS. | ClinVar; OMIM |
| Colorectal Cancer | Altered PDS5A expression and mutations contribute to chromosomal instability and tumor progression. | COSMIC; NCBI |
| Breast Cancer | PDS5A overexpression is associated with poor prognosis and may promote tumorigenesis through genomic instability. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Bone marrow | 11.5 | Medium |
| Brain | 8.9 | Low |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | High expression in cervical cancer cell line |
| HEK293 | 14.2 | Moderate expression in embryonic kidney cells |
| MCF7 | 12.1 | Moderate expression in breast cancer cell line |
| K562 | 10.8 | Moderate expression in leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with CdLS |
| c.2567A>G (p.Asn856Ser) | Missense | <0.1% | Potential dominant-negative effect; reported in CdLS |
| c.3456_3457insA | Frameshift | <0.1% | Loss of function; observed in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing cohesin function and causing genomic instability.
Gain of Function (GOF)
Not well characterized; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Asn856Ser) may interfere with wild-type PDS5A function, disrupting cohesin dynamics.
View complete mutation data：
Gene Ontology (GO)
| • sister chromatid cohesion | • chromosome segregation |
| • DNA repair | • mitotic cell cycle |
| • protein binding | • nucleus |
Pathways
• Cohesin complex pathway
• Cell cycle - mitosis
• DNA double-strand break repair
Protein Summary
PDS5A is a 1337-amino acid protein that contains HEAT repeats and localizes to chromatin. It is a key regulator of cohesin dynamics, facilitating the loading and unloading of cohesin from chromosomes. PDS5A interacts with WAPL to promote cohesin release during prophase and with NIPBL to enhance cohesin loading. It is essential for proper sister chromatid cohesion, DNA repair, and transcriptional regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDS5A Knockout HEK293 Cell Line | EDJ-KQ51089 | Human | 23244 | Details Get a Quote |
| PDS5A Knockout HeLa Cell Line | EDJ-KQ55709 | Human | 23244 | Details Get a Quote |
| PDS5A Knockout A-549 Cell Line | EDJ-KQ64207 | Human | 23244 | Details Get a Quote |
| PDS5A Knockout HCT 116 Cell Line | EDJ-KQ72651 | Human | 23244 | Details Get a Quote |
