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Literature summary for 2.7.1.78 extracted from

  • Schaffer, A.E.; Eggens, V.R.; Caglayan, A.O.; Reuter, M.S.; Scott, E.; Coufal, N.G.; Silhavy, J.L.; Xue, Y.; Kayserili, H.; Yasuno, K.; Rosti, R.O.; Abdellateef, M.; Caglar, C.; Kasher, P.R.; Cazemier, J.L.; Weterman, M.A.; Cantagrel, V.; Cai, N.; Zweier, C.; Altunoglu, U.; Satkin, N.B.; Aktar, F.; Tuysuz, B.
    CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration (2014), Cell, 157, 651-663.
    View publication on PubMedView publication on EuropePMC
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Protein Variants

Protein Variants Comment Organism
R140H the mutation does not destabilize the protein but substantially impairs kinase activity (less than 40% compared to the wild type). The mutation is associated with degeneration/hypoplasia of the central nervous system Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
48000
-
 x * 48000, SDS-PAGE Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + 5'-dephospho-DNA Homo sapiens
-
 ADP + 5'-phospho-DNA
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q92989
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + 5'-dephospho-DNA
-
 Homo sapiens ADP + 5'-phospho-DNA
-
 ?

Subunits

Subunits Comment Organism
? x * 48000, SDS-PAGE Homo sapiens

Synonyms

Synonyms Comment Organism
CLP1
-
 Homo sapiens
tRNA endonuclease complex
-
 Homo sapiens
TSEN
-
 Homo sapiens