PAPOLB
Poly(A) Polymerase Beta
Gene Information Card
| Symbol | PAPOLB |
|---|---|
| Full Name | Poly(A) Polymerase Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 56903 ncbi.nlm.nih.gov/gene/56903 |
| Ensembl ID | ENSG00000106484 |
| UniProt ID | Q9NRJ5 |
| OMIM ID | 605553 |
| HGNC ID | 8600 |
| Aliases | PAPB, PAP2, PAP-beta |
Description
PAPOLB encodes poly(A) polymerase beta, an 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 one of several nuclear poly(A) polymerases involved in polyadenylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Spleen | 5.4 | Low |
| Brain | 3.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 10.3 | Leukemia cell line |
| HEK 293 | 7.8 | Embryonic kidney |
| HeLa | 6.5 | Cervical carcinoma |
| HepG2 | 5.2 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown significance |
| c.567_568del (p.Glu189fs) | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated, non-functional protein.
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 polyadenylation | • RNA binding |
| • nucleotidyltransferase activity | • nucleus |
Pathways
• mRNA polyadenylation
• RNA processing
Protein Summary
Poly(A) polymerase beta is a 745-amino acid nuclear protein that adds poly(A) tails to mRNA transcripts. It contains a nucleotidyltransferase domain and is essential for proper mRNA 3' end processing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAPOLB Knockout HEK293 Cell Line | EDJ-KQ14674 | Human | 56903 | Details Get a Quote |
| PAPOLB Knockout HeLa Cell Line | EDJ-KQ56764 | Human | 56903 | Details Get a Quote |
| PAPOLB Knockout A-549 Cell Line | EDJ-KQ65266 | Human | 56903 | Details Get a Quote |
| PAPOLB Knockout HCT 116 Cell Line | EDJ-KQ73709 | Human | 56903 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
