PABPC3
Poly(A) Binding Protein Cytoplasmic 3
Gene Information Card
| Symbol | PABPC3 |
|---|---|
| Full Name | Poly(A) Binding Protein Cytoplasmic 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q12.12 |
| NCBI Gene ID | 5042 ncbi.nlm.nih.gov/gene/5042 |
| Ensembl ID | ENSG00000151846 |
| UniProt ID | Q9H361 |
| OMIM ID | 604680 |
| HGNC ID | 8555 |
| Aliases | PABP3, PABPL1 |
Description
PABPC3 encodes a member of the cytoplasmic poly(A)-binding protein family. These proteins bind to the poly(A) tail of mRNA and are involved in mRNA stability, translation initiation, and polyadenylation. PABPC3 is specifically expressed in testis and plays a role in spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered PABPC3 expression may disrupt spermatogenesis | Expression studies in testicular tissue |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.5 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 12.3 | Testicular origin |
| HeLa | 0.2 | Cervical cancer |
| K-562 | 0.1 | Leukemia |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not reported
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data:
Gene Ontology (GO)
| • RNA binding | • poly(A) RNA binding |
| • cytoplasm | • mRNA processing |
| • translation |
Pathways
• mRNA surveillance pathway
• RNA transport
Protein Summary
PABPC3 is a 636-amino acid protein containing four RNA recognition motifs (RRMs) and a C-terminal domain. It specifically binds poly(A) tails and is predominantly expressed in testis, where it regulates mRNA translation and stability during spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PABPC3 Knockout HEK293 Cell Line | EDJ-KQ3498 | Human | 5042 | Details Get a Quote |
| PABPC3 Knockout A-549 Cell Line | EDJ-KQ25302 | Human | 5042 | Details Get a Quote |
| PABPC3 Knockout HCT 116 Cell Line | EDJ-KQ25303 | Human | 5042 | Details Get a Quote |
| PABPC3 Knockout HeLa Cell Line | EDJ-KQ54072 | Human | 5042 | Details Get a Quote |