GENE NAME | CPSF3 |
CHROMOSOME | 2 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000119203 |
UNIPROT ACCESSION NUMBER | Q9UKF6 |
GO MOLECULAR FUNCTION | ["5'-3' exonuclease activity", 'endoribonuclease activity', 'protein binding', 'RNA binding', "5'-3' exoribonuclease activity", 'metal ion binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa03015; R-HSA-159231; R-HSA-159234; R-HSA-72163; R-HSA-72172; R-HSA-72187; R-HSA-72202; R-HSA-72203; R-HSA-73856; R-HSA-73857; R-HSA-74160; R-HSA-75067; R-HSA-77595; R-HSA-8953854 |
1 combination linked to CPSF3 | OLI1680 |
1 variant linked to CPSF3 | CPSF3:c.1120A>G, p.Ile374Val |
1 disease linked to CPSF3 | Non-Syndromic genetic keratoconus |