PABPN1

Chr 14q11.2

poly(A) binding protein nuclear 1

Aliases:: PAB2
MANE:: ENST00000216727.9

OMIM: 602279 ↗NCBI: 8106 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PABPN1 · Q86U42

v62025-08-01

Predicted Aligned Error matrix for PABPN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.9/ 100

Low

306 residues

Confidence breakdown

Very high(≥ 90)26%
Confident(70–90)14%
Low(50–70)35%
Very low(< 50)24%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

oculopharyngeal muscular dystrophy 1
0.66
oculopharyngeal muscular dystrophy
0.63
hereditary disease
0.41
influenza
0.37
dengue disease
0.37
cancer
0.08
colorectal carcinoma
0.08
breast cancer
0.08
amyotrophic lateral sclerosis
0.07
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Polyadenylate-binding protein 2

Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product (By similarity). Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and also controls the poly(A) tail length (By similarity). Increases the affinity of poly(A) polymerase for RNA (By similarity). Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription through MYOD1 and may regulate the expression of muscle-specific genes (PubMed:11371506). Binds to poly(A) and to poly(G) with high affinity (By similarity). May protect the poly(A) tail from degradation (By similarity). Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484)