Protein Variants | Comment | Organism |
---|---|---|
K127A | inactive | Homo sapiens |
R140H | the mutation negatively affects enzyme function | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + 5'-dephospho-DNA | Homo sapiens | - |
ADP + 5'-phospho-DNA | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + 5'-dephospho-DNA | - |
Homo sapiens | ADP + 5'-phospho-DNA | - |
? |
Synonyms | Comment | Organism |
---|---|---|
CLP1 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mutations lead to a loss of enzyme interaction with the tRNA splicing endonuclease complex, largely reduced pretRNA cleavage activity, and accumulation of linear tRNA introns. The affected individuals develop severe motor-sensory defects, cortical dysgenesis, and microcephaly | Homo sapiens |