Details for Gene CPSF3

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

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