PABPC5
Poly(A) Binding Protein Cytoplasmic 5
Gene Information Card
| Symbol | PABPC5 |
|---|---|
| Full Name | Poly(A) Binding Protein Cytoplasmic 5 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq21.31 |
| NCBI Gene ID | 140886 ncbi.nlm.nih.gov/gene/140886 |
| Ensembl ID | ENSG00000184792 |
| UniProt ID | Q96DU9 |
| OMIM ID | 300653 |
| HGNC ID | 8565 |
| Aliases | PABP5, PABPC6 |
Description
PABPC5 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 polyadenylation. The protein is predominantly cytoplasmic and is expressed in various tissues. The gene is located on the X chromosome and escapes X-inactivation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, X-linked | Potential role in mRNA regulation affecting neuronal development | Limited evidence; reported in rare case studies (ClinVar) |
| Cancer (general) | Altered expression may impact mRNA stability and translation in tumorigenesis | COSMIC database reports somatic mutations in various cancers |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Heart | 6.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.2 | Low expression |
| HepG2 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon; predicted loss of function |
| c.256C>T (p.Arg86Trp) | Missense | Rare | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare and may affect mRNA binding and translation regulation.
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)
| • RNA binding | • poly(A) RNA binding |
| • cytoplasm | • mRNA processing |
| • translation initiation factor activity |
Pathways
• mRNA surveillance pathway
• Translation regulation by PABPs
Protein Summary
PABPC5 is a 623-amino acid protein containing four RNA recognition motifs (RRMs) and a C-terminal domain. It binds specifically to poly(A) tails of mRNA, facilitating translation initiation and mRNA stability. The protein is widely expressed and may have tissue-specific roles in spermatogenesis and neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PABPC5 Knockout HEK293 Cell Line | EDJ-KQ9825 | Human | 140886 | Details Get a Quote |
| PABPC5 Knockout HeLa Cell Line | EDJ-KQ58472 | Human | 140886 | Details Get a Quote |
| PABPC5 Knockout A-549 Cell Line | EDJ-KQ66958 | Human | 140886 | Details Get a Quote |
| PABPC5 Knockout HCT 116 Cell Line | EDJ-KQ75359 | Human | 140886 | Details Get a Quote |
