Protein-coding gene in humans
Poly(A) polymerase alpha is an enzyme that in humans is encoded by the PAPOLA gene.[5][6][7]
PAPOLA binds to FIP1L1 (Factor interacting with PAPOLA and CPSF1), a subunit of the cleavage and polyadenylation specificity factor subunit 1 (CPSF1) complex. This complex polyadenylates the 3' end of precursor mRNAs (pre-mRNA) (see CPSF). CPSF1 is an RNA processing protein that binds to uracil-rich sequences in pre-mRNA, binds with and stimulates PAPOLA's Polynucleotide adenylyltransferase activity, and thereby adds adenylyl residues to pre-mRNA. This poly-adenylyl action increases pre mRNA's maturation and movement from the nucleus to cytoplasm while dramatically increasing the stability of the mRNA formed from pre-mRNA: FIP1L1 is a Pre-mRNA 3'-end-processing factor. FIP1L1 gene fusions between it and either the platelet-derived growth factor receptor, alpha (PGDFRA) or Retinoic acid receptor alpha (RARA) genes are causes of certain human diseases associated with pathologically increased levels of blood eosinophils and/or Leukemias.[8]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000090060 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021111 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Thuresson AC, Astrom J, Astrom A, Gronvik KO, Virtanen A (Mar 1994). "Multiple forms of poly(A) polymerases in human cells". Proc Natl Acad Sci U S A. 91 (3): 979–83. Bibcode:1994PNAS...91..979T. doi:10.1073/pnas.91.3.979. PMC 521437. PMID 8302877.
- ^ Yamauchi T, Sugimoto J, Hatakeyama T, Asakawa S, Shimizu N, Isobe M (Sep 1999). "Assignment of the human poly(A) polymerase (PAP) gene to chromosome 14q32.1-q32.2 and isolation of a polymorphic CA repeat sequence". J Hum Genet. 44 (4): 253–5. doi:10.1007/s100380050154. PMID 10429366.
- ^ "Entrez Gene: PAPOLA poly(A) polymerase alpha".
- ^ "FIP1L1 factor interacting with PAPOLA and CPSF1 [Homo sapiens (Human)] - Gene - NCBI".