CPSF1
Function
Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. This subunit is involved in the RNA recognition step of the polyadenylation reaction (PubMed:14749727). May play a role in eye morphogenesis and the development of retinal ganglion cell projections to the midbrain (By similarity).
Involvement in disease
Myopia 27, autosomal dominant
MYP27
A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP27 patients are affected by early-onset high myopia with increased axial lengths. Fundus changes include optic nerve head crescent and tigroid appearance of the posterior retina.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The N-terminus is blocked.
Sequence Similarities
Belongs to the CPSF1 family.
Tissue Specificity
Widely expressed, with high expression in the retina.
Cellular localization
- Nucleus
- Nucleoplasm
Alternative names
CPSF160, CPSF1, Cleavage and polyadenylation specificity factor subunit 1, Cleavage and polyadenylation specificity factor 160 kDa subunit, CPSF 160 kDa subunit