PAPOLG: Poly(A) Polymerase Gamma – A Key Regulator of mRNA Polyadenylation
Comprehensive genomic and functional analysis of PAPOLG, a nuclear poly(A) polymerase involved in 3' end processing of RNA transcripts.
Gene Information Card
| Symbol | PAPOLG |
|---|---|
| Full Name | poly(A) polymerase gamma |
| Gene Type | protein-coding |
| Chromosomal Location | 2p16.1 |
| NCBI Gene ID | 64895 ncbi.nlm.nih.gov/gene/64895 |
| Ensembl ID | ENSG00000115421 |
| UniProt ID | Q9BWT3 |
| OMIM ID | 610206 |
| HGNC ID | 29965 |
| Aliases | PAP-gamma, PAP2, PAPG |
Description
PAPOLG (poly(A) polymerase gamma) encodes a nuclear poly(A) polymerase that catalyzes the addition of adenine residues to the 3' end of pre-mRNA, a critical step in mRNA maturation and stability. The enzyme is part of the cleavage and polyadenylation specificity factor (CPSF) complex and is involved in alternative polyadenylation, influencing transcript diversity and gene expression regulation. PAPOLG is ubiquitously expressed with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of polyadenylation leading to altered mRNA stability and expression of oncogenes/tumor suppressors | COSMIC database reports somatic mutations in multiple cancer types; ClinVar lists variants of uncertain significance |
| Neurodevelopmental disorders | Potential impact on neuronal mRNA processing; limited direct evidence | OMIM notes association with intellectual disability in some case studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells; moderate expression |
| HeLa | 7.4 | Cervical cancer cells; low expression |
| K562 | 6.5 | Leukemia cells; low expression |
| HepG2 | 5.1 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.001% (gnomAD) | Unknown; predicted damaging by SIFT |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; likely pathogenic |
| c.890A>G (p.Asn297Ser) | Missense | 0.002% | Benign; tolerated |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the catalytic domain lead to loss of polyadenylation activity.
Gain of Function (GOF)
Not reported; no activating mutations documented.
Dominant Negative (DN)
No evidence for dominant-negative effects; PAPOLG functions as part of a complex and haploinsufficiency may occur.
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: hsa03040)
Protein Summary
Poly(A) polymerase gamma (PAPOLG) is a 745-amino acid nuclear protein containing a nucleotidyltransferase domain responsible for adding poly(A) tails to mRNA. It interacts with CPSF and other polyadenylation factors. The protein is essential for proper mRNA maturation and has been implicated in cancer through altered polyadenylation patterns.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAPOLG Knockout HEK293 Cell Line | EDJ-KQ14675 | Human | 64895 | Details Get a Quote |
| PAPOLG Knockout A-549 Cell Line | EDJ-KQ44966 | Human | 64895 | Details Get a Quote |
| PAPOLG Knockout HCT 116 Cell Line | EDJ-KQ44967 | Human | 64895 | Details Get a Quote |
| PAPOLG Knockout HeLa Cell Line | EDJ-KQ44968 | Human | 64895 | Details Get a Quote |
