UniProt functional annotation for Q10570



	UniProt functional annotation for Q10570

UniProt code: Q10570.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

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). {ECO:0000250|UniProtKB:A0A0R4IC37, ECO:0000269|PubMed:14749727}.

Subunit: Component of the cleavage and polyadenylation specificity factor (CPSF) complex, composed of CPSF1, CPSF2, CPSF3, CPSF4 and FIP1L1. Found in a complex with CPSF1, FIP1L1 and PAPOLA. Interacts with FIP1L1, TENT2/GLD2 and SRRM1. Interacts with TUT1; the interaction is direct and mediates the recruitment of the CPSF complex on the 3'UTR of selected pre-mRNAs. {ECO:0000269|PubMed:11739730, ECO:0000269|PubMed:14749727, ECO:0000269|PubMed:21102410}.

Subcellular location: Nucleus, nucleoplasm.

Tissue specificity: Widely expressed, with high expression in the retina. {ECO:0000269|PubMed:30689892}.

Ptm: The N-terminus is blocked.

Disease: Myopia 27 (MYP27) [MIM:618827]: 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. {ECO:0000269|PubMed:30689892}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the CPSF1 family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



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). {ECO:0000250\|UniProtKB:A0A0R4IC37, ECO:0000269\|PubMed:14749727}.


Subunit:		Component of the cleavage and polyadenylation specificity factor (CPSF) complex, composed of CPSF1, CPSF2, CPSF3, CPSF4 and FIP1L1. Found in a complex with CPSF1, FIP1L1 and PAPOLA. Interacts with FIP1L1, TENT2/GLD2 and SRRM1. Interacts with TUT1; the interaction is direct and mediates the recruitment of the CPSF complex on the 3'UTR of selected pre-mRNAs. {ECO:0000269\|PubMed:11739730, ECO:0000269\|PubMed:14749727, ECO:0000269\|PubMed:21102410}.
Subcellular location:		Nucleus, nucleoplasm.
Tissue specificity:		Widely expressed, with high expression in the retina. {ECO:0000269\|PubMed:30689892}.
Ptm:		The N-terminus is blocked.
Disease:		Myopia 27 (MYP27) [MIM:618827]: 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. {ECO:0000269\|PubMed:30689892}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the CPSF1 family. {ECO:0000305}.