PAN3
PABPN1-Dependent mRNA Polyadenylation Factor
Gene Information Card
| Symbol | PAN3 |
|---|---|
| Full Name | Poly(A) Specific Ribonuclease Subunit 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.2 |
| NCBI Gene ID | 255967 ncbi.nlm.nih.gov/gene/255967 |
| Ensembl ID | ENSG00000152518 |
| UniProt ID | Q58A45 |
| OMIM ID | 617448 |
| HGNC ID | 29235 |
| Aliases | PABPN1-dependent poly(A) nuclease 3, PAN deadenylation complex subunit 3 |
Description
PAN3 is a protein-coding gene that encodes a subunit of the poly(A)-specific ribonuclease (PAN) complex. The PAN complex is involved in the deadenylation and degradation of mRNA, playing a critical role in post-transcriptional gene regulation. PAN3 interacts with PABPN1 and is essential for the poly(A) tail shortening process.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oculopharyngeal muscular dystrophy (OPMD) | PAN3 is part of the PAN complex that interacts with PABPN1; expanded polyalanine repeats in PABPN1 disrupt PAN complex function, leading to mRNA dysregulation. | ClinVar, OMIM |
| Cancer (various) | Altered expression of PAN3 may contribute to mRNA stability changes in tumor cells. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 5.3 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.3 | Low expression |
| HepG2 | 5.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G | Missense | <0.01% | Unknown |
| c.567C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of PAN complex activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • mRNA deadenylation | • poly(A)-specific ribonuclease activity |
| • cytoplasm | • nucleus |
| • protein binding |
Pathways
• mRNA surveillance pathway
• RNA degradation
Protein Summary
The PAN3 protein is a component of the poly(A)-specific ribonuclease (PAN) complex. It contains a zinc finger domain and interacts with PABPN1 to facilitate deadenylation of mRNA poly(A) tails. PAN3 is essential for the regulation of mRNA stability and translation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAN3 Knockout HEK293 Cell Line | EDJ-KQ11813 | Human | 255967 | Details Get a Quote |
| PAN3 Knockout A-549 Cell Line | EDJ-KQ40231 | Human | 255967 | Details Get a Quote |
| PAN3 Knockout HCT 116 Cell Line | EDJ-KQ40232 | Human | 255967 | Details Get a Quote |
| PAN3 Knockout HeLa Cell Line | EDJ-KQ40233 | Human | 255967 | Details Get a Quote |