PABPN1
Poly(A) Binding Protein Nuclear 1
Gene Information Card
| Symbol | PABPN1 |
|---|---|
| Full Name | Poly(A) Binding Protein Nuclear 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 8106 ncbi.nlm.nih.gov/gene/8106 |
| Ensembl ID | ENSG00000100836 |
| UniProt ID | Q86U42 |
| OMIM ID | 602279 |
| HGNC ID | 8567 |
| Aliases | PAB2, PABP-2, PABPN1 |
Description
PABPN1 (Poly(A) Binding Protein Nuclear 1) encodes a nuclear protein that binds to the poly(A) tail of mRNA and stimulates poly(A) polymerase activity during pre-mRNA polyadenylation. The protein contains a coiled-coil domain and an RNA recognition motif. Expansion of a GCG trinucleotide repeat in the coding region leads to oculopharyngeal muscular dystrophy (OPMD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oculopharyngeal muscular dystrophy (OPMD) | Expansion of a GCG trinucleotide repeat (normally 10; expanded to 12-17) in the coding region of PABPN1 leads to an expanded polyalanine tract, causing nuclear aggregates and toxicity in skeletal muscle. | ClinVar, OMIM #164300 |
| Inclusion body myopathy | Similar nuclear aggregates of mutant PABPN1 are observed in sporadic inclusion body myositis, though the genetic basis is distinct. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Brain | 8.7 | Medium |
| Liver | 6.3 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical carcinoma cell line |
| HEK 293 | 14.8 | Embryonic kidney cell line |
| K562 | 12.1 | Leukemia cell line |
| HepG2 | 9.4 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| GCG repeat expansion (10 to 12-17 repeats) | Trinucleotide repeat expansion | ~1 in 100,000 (OPMD prevalence) | Expanded polyalanine tract leads to nuclear aggregation and muscle cell death |
| c.35G>A (p.Gly12Asp) | Missense | Rare | Uncertain significance; reported in OPMD-like phenotypes |
Mutation functional classification
Loss of Function (LOF)
Not established; OPMD mutations are gain-of-function/dominant-negative.
Gain of Function (GOF)
Expanded polyalanine tract confers toxic gain-of-function via aggregation.
Dominant Negative (DN)
Mutant PABPN1 interferes with wild-type function in polyadenylation and nuclear transport.
View complete mutation data：
Gene Ontology (GO)
| • mRNA polyadenylation | • poly(A) RNA binding |
| • nuclear speck | • RNA processing |
| • mRNA 3'-end processing |
Pathways
• mRNA 3'-end processing
• Cleavage and polyadenylation of pre-mRNA
Protein Summary
PABPN1 is a 306-amino acid nuclear protein that binds poly(A) tails with high affinity. It contains an N-terminal coiled-coil domain and a C-terminal RNA recognition motif. The protein shuttles between the nucleus and cytoplasm but predominantly localizes to nuclear speckles. It is essential for efficient polyadenylation and mRNA export.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PABPN1L Knockout HEK293 Cell Line | EDJ-KQ14665 | Human | 390748 | Details Get a Quote |
| BCL2L2-PABPN1 Knockout HEK293 Cell Line | EDJ-KQ52491 | Human | 100529063 | Details Get a Quote |
| PABPN1L Knockout HeLa Cell Line | EDJ-KQ60190 | Human | 390748 | Details Get a Quote |
| BCL2L2-PABPN1 Knockout HeLa Cell Line | EDJ-KQ60954 | Human | 100529063 | Details Get a Quote |
| PABPN1L Knockout A-549 Cell Line | EDJ-KQ68652 | Human | 390748 | Details Get a Quote |
| BCL2L2-PABPN1 Knockout A-549 Cell Line | EDJ-KQ69429 | Human | 100529063 | Details Get a Quote |
| PABPN1L Knockout HCT 116 Cell Line | EDJ-KQ77020 | Human | 390748 | Details Get a Quote |
| BCL2L2-PABPN1 Knockout HCT 116 Cell Line | EDJ-KQ77780 | Human | 100529063 | Details Get a Quote |
