PAPOLA: Poly(A) Polymerase Alpha
A key enzyme in mRNA polyadenylation, implicated in gene expression regulation and cancer biology.
Gene Information Card
| Symbol | PAPOLA |
|---|---|
| Full Name | Poly(A) Polymerase Alpha |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.2 |
| NCBI Gene ID | 10914 ncbi.nlm.nih.gov/gene/10914 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | P51003 |
| OMIM ID | 605553 |
| HGNC ID | 8602 |
| Aliases | PAP, PAP-alpha, PAPOL, PAPOLA1 |
Description
PAPOLA encodes poly(A) polymerase alpha, a nuclear enzyme that catalyzes the addition of adenine residues to the 3' end of pre-mRNA, a critical step in mRNA maturation and stability. It is involved in the regulation of gene expression and has been associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian Cancer | Altered PAPOLA expression may affect mRNA stability of oncogenes/tumor suppressors | COSMIC, NCBI Gene |
| Breast Cancer | Dysregulation of polyadenylation contributes to aberrant gene expression | COSMIC, NCBI Gene |
| Colorectal Cancer | PAPOLA mutations and expression changes linked to tumor progression | COSMIC, NCBI Gene |
| Intellectual Disability | De novo variants in PAPOLA associated with neurodevelopmental phenotypes | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 12.8 | Medium |
| Lung | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| HEK293 | 16.2 | Embryonic kidney cell line |
| K562 | 14.0 | Leukemia cell line |
| MCF7 | 12.3 | Breast cancer cell line |
| A549 | 11.8 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.1% | Unknown functional impact |
| c.567_568del | Frameshift | <0.01% | Loss of function |
| c.890A>G | Missense | <0.05% | Potential gain of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, reducing polyadenylation activity.
Gain of Function (GOF)
Missense mutations that may enhance enzyme activity or alter substrate specificity.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • polynucleotide adenylyltransferase activity (GO:0004652) |
| • nucleus (GO:0005634) | • mRNA polyadenylation (GO:0006378) |
| • mRNA 3'-end processing (GO:0031124) |
Pathways
• mRNA 3'-end processing (Reactome: R-HSA-72172)
• Cleavage and polyadenylation of pre-mRNA (KEGG: hsa03015)
Protein Summary
Poly(A) polymerase alpha (PAPOLA) is a 745-amino acid nuclear protein that adds poly(A) tails to pre-mRNA, essential for mRNA stability, nuclear export, and translation. It contains a nucleotidyltransferase domain and interacts with cleavage and polyadenylation factors. PAPOLA is ubiquitously expressed with higher levels in testis and brain. Dysregulation is linked to cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAPOLA Knockout HEK293 Cell Line | EDJ-KQ7213 | Human | 10914 | Details Get a Quote |
| PAPOLA Knockout A-549 Cell Line | EDJ-KQ32161 | Human | 10914 | Details Get a Quote |
| PAPOLA Knockout HCT 116 Cell Line | EDJ-KQ32162 | Human | 10914 | Details Get a Quote |
| PAPOLA Knockout HeLa Cell Line | EDJ-KQ32163 | Human | 10914 | Details Get a Quote |
