Aliases for CLP1 Gene
External Ids for CLP1 Gene
Previous GeneCards Identifiers for CLP1 Gene
This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA cleavage complex II. This protein is implicated in tRNA, mRNA, and siRNA maturation. Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10). Alternatively splice transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
GeneCards Summary for CLP1 Gene
CLP1 (Cleavage Factor Polyribonucleotide Kinase Subunit 1) is a Protein Coding gene. Diseases associated with CLP1 include Pontocerebellar Hypoplasia, Type 10 and Pontocerebellar Hypoplasia. Among its related pathways are Processing of Capped Intronless Pre-mRNA and Tat-mediated elongation of the HIV-1 transcript. Gene Ontology (GO) annotations related to this gene include ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity and ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity. An important paralog of this gene is NOL9.
UniProtKB/Swiss-Prot Summary for CLP1 Gene
Polynucleotide kinase that can phosphorylate the 5'-hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double-stranded DNA (dsDNA) and double-stranded DNA:RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA:RNA hybrid is phosphorylated more efficiently than the DNA component. Plays a key role in both tRNA splicing and mRNA 3'-end formation. Component of the tRNA splicing endonuclease complex: phosphorylates the 5'-terminus of the tRNA 3'-exon during tRNA splicing; this phosphorylation event is a prerequisite for the subsequent ligation of the two exon halves and the production of a mature tRNA (PubMed:24766809, PubMed:24766810). Its role in tRNA splicing and maturation is required for cerebellar development (PubMed:24766809, PubMed:24766810). Component of the pre-mRNA cleavage complex II (CF-II), which seems to be required for mRNA 3'-end formation. Also phosphorylates the 5'-terminus of exogenously introduced short interfering RNAs (siRNAs), which is a necessary prerequisite for their incorporation into the RNA-induced silencing complex (RISC). However, endogenous siRNAs and microRNAs (miRNAs) that are produced by the cleavage of dsRNA precursors by DICER1 already contain a 5'-phosphate group, so this protein may be dispensible for normal RNA-mediated gene silencing.