PAPOLA
Description
The PAPOLA (poly(A) polymerase alpha) is a protein-coding gene located on chromosome 14.
PAPOLA (Poly(A) polymerase alpha) is an enzyme encoded by the PAPOLA gene in humans. It forms a complex with FIP1L1 (Factor interacting with PAPOLA and CPSF1), a subunit of the CPSF1 complex (cleavage and polyadenylation specificity factor subunit 1). This complex adds a poly(A) tail to the 3' end of pre-mRNA (precursor mRNA). CPSF1 binds to uracil-rich sequences in pre-mRNA and stimulates PAPOLA's Polynucleotide adenylyltransferase activity, adding adenylyl residues to pre-mRNA. This poly-adenylyl action enhances pre-mRNA maturation and nuclear export, while significantly increasing the stability of the mRNA formed from pre-mRNA. FIP1L1 is a Pre-mRNA 3'-end-processing factor. Fusions between FIP1L1 and either the PDGDFRA (platelet-derived growth factor receptor, alpha) or RARA (Retinoic acid receptor alpha) genes are associated with certain human diseases characterized by abnormally high levels of blood eosinophils and/or Leukemias.
PAPOLA is an enzyme that adds a poly(A) tail to the 3' end of mRNA molecules. This process is essential for mRNA stability, nuclear export, and translation. PAPOLA also plays a role in the endoribonucleolytic cleavage reaction at some polyadenylation sites. The specificity of PAPOLA is influenced by its interaction with a cleavage and polyadenylation specificity factor (CPSF) at its C-terminus.
PAPOLA is also known as PAP, PAP-alpha.
Associated Diseases
- Alzheimer disease
- Parkinson disease
- lysosomal storage disease
- multiple sclerosis
- hypoparathyroidism, familial isolated, 2
- isolated asymptomatic elevation of creatine phosphokinase
- pseudohypoparathyroidism type 2
- pentosuria
- 22q11.2 deletion syndrome
- adamantinoma
- ulna metaphyseal dysplasia syndrome
- familial isolated hyperparathyroidism
- blue diaper syndrome
