PABPC1L: Poly(A) Binding Protein Cytoplasmic 1 Like
A testis-specific poly(A)-binding protein involved in mRNA stability and translational control during spermatogenesis.
Gene Information Card
| Symbol | PABPC1L |
|---|---|
| Full Name | Poly(A) Binding Protein Cytoplasmic 1 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 80336 ncbi.nlm.nih.gov/gene/80336 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q4VXU2 |
| OMIM ID | 617407 |
| HGNC ID | 23383 |
| Aliases | PABPC3, PABP3, PABPL |
Description
PABPC1L (Poly(A) Binding Protein Cytoplasmic 1 Like) is a protein-coding gene that encodes a member of the cytoplasmic poly(A)-binding protein family. This protein is predominantly expressed in testis and plays a critical role in mRNA stability, polyadenylation, and translation initiation during spermatogenesis. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Impaired mRNA poly(A) binding and translation in germ cells | OMIM #617407; ClinVar |
| Male infertility | Defective spermatogenesis due to reduced PABPC1L expression | NCBI Gene; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 1.2 | Low |
| Prostate | 0.9 | Low |
| Ovary | 0.6 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.3 | Testis-derived |
| HEK293 | 0.2 | Very low |
| HeLa | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; predicted loss of function |
| c.742C>T (p.Arg248*) | nonsense | <0.01% | Premature stop; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants in PABPC1L are predicted to cause loss of poly(A)-binding activity, impairing mRNA translation in spermatids.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mRNA binding (GO:0003729) | • poly(A) binding (GO:0008143) |
| • translation initiation (GO:0006413) | • mRNA stabilization (GO:0048255) |
| • cytoplasm (GO:0005737) |
Pathways
• mRNA surveillance pathway (KEGG hsa03015)
• RNA transport (KEGG hsa03013)
Protein Summary
The PABPC1L protein (UniProt Q4VXU2) is a 633-amino acid cytoplasmic poly(A)-binding protein containing four RNA recognition motifs (RRMs). It binds with high affinity to the poly(A) tail of mRNAs, promoting translation initiation and protecting transcripts from deadenylation. Expression is highly restricted to testis, where it is essential for proper spermatid development and male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PABPC1L Knockout HEK293 Cell Line | EDJ-KQ2835 | Human | 80336 | Details Get a Quote |
| PABPC1L2A Knockout HEK293 Cell Line | EDJ-KQ14663 | Human | 340529 | Details Get a Quote |
| PABPC1L2B Knockout HEK293 Cell Line | EDJ-KQ14664 | Human | 645974 | Details Get a Quote |
| PABPC1L Knockout HeLa Cell Line | EDJ-KQ22453 | Human | 80336 | Details Get a Quote |
| PABPC1L Knockout A-549 Cell Line | EDJ-KQ23819 | Human | 80336 | Details Get a Quote |
| PABPC1L Knockout HCT 116 Cell Line | EDJ-KQ23820 | Human | 80336 | Details Get a Quote |
| PABPC1L2A Knockout HeLa Cell Line | EDJ-KQ59681 | Human | 340529 | Details Get a Quote |
| PABPC1L2B Knockout HeLa Cell Line | EDJ-KQ60597 | Human | 645974 | Details Get a Quote |
| PABPC1L2A Knockout A-549 Cell Line | EDJ-KQ68152 | Human | 340529 | Details Get a Quote |
| PABPC1L2B Knockout A-549 Cell Line | EDJ-KQ69067 | Human | 645974 | Details Get a Quote |
| PABPC1L2A Knockout HCT 116 Cell Line | EDJ-KQ76529 | Human | 340529 | Details Get a Quote |
| PABPC1L2B Knockout HCT 116 Cell Line | EDJ-KQ77420 | Human | 645974 | Details Get a Quote |
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