PABPC4L Gene - Poly(A) Binding Protein Cytoplasmic 4 Like
Comprehensive genomic and functional analysis of PABPC4L
Gene Information Card
| Symbol | PABPC4L |
|---|---|
| Full Name | poly(A) binding protein cytoplasmic 4 like |
| Gene Type | protein-coding |
| Chromosomal Location | 4q28.3 |
| NCBI Gene ID | 132430 ncbi.nlm.nih.gov/gene/132430 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q5VTL8 |
| OMIM ID | 617446 |
| HGNC ID | 24764 |
| Aliases | PABPC4L1, PABPC4-like |
Description
PABPC4L (poly(A) binding protein cytoplasmic 4 like) is a protein-coding gene located on chromosome 4q28.3. It encodes a member of the poly(A)-binding protein family, which binds to the poly(A) tail of mRNA and is involved in mRNA stability, translation initiation, and regulation of gene expression. The protein is predominantly expressed in testis and plays a role in spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Impaired mRNA poly(A) binding and translation regulation in germ cells | Limited evidence; inferred from expression and functional homology |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 3.2 | Low |
| Prostate | 2.1 | Low |
| Ovary | 1.8 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.5 | Low expression |
| HEK293 | 0.3 | Low expression |
| K562 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Predicted loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons and truncated protein.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • poly(A) binding (GO:0008143) |
| • regulation of translation (GO:0006417) | • cytoplasm (GO:0005737) |
Pathways
• mRNA surveillance pathway
• Translation regulation by poly(A) binding proteins
Protein Summary
The PABPC4L protein (UniProt Q5VTL8) is a 636-amino acid cytoplasmic poly(A)-binding protein. It contains four RNA recognition motifs (RRMs) that mediate binding to the poly(A) tail of mRNAs, and a C-terminal domain involved in protein-protein interactions. It is thought to regulate mRNA stability and translation efficiency, particularly in germ cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PABPC4L Knockout HEK293 Cell Line | EDJ-KQ9296 | Human | 132430 | Details Get a Quote |
| PABPC4L Knockout HeLa Cell Line | EDJ-KQ34667 | Human | 132430 | Details Get a Quote |
| PABPC4L Knockout A-549 Cell Line | EDJ-KQ66803 | Human | 132430 | Details Get a Quote |
| PABPC4L Knockout HCT 116 Cell Line | EDJ-KQ75203 | Human | 132430 | Details Get a Quote |
