Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary extracted from

  • Karaca, E.; Weitzer, S.; Pehlivan, D.; Shiraishi, H.; Gogakos, T.; Hanada, T.; Jhangiani, S.N.; Wiszniewski, W.; Withers, M.; Campbell, I.M.; Erdin, S.; Isikay, S.; Franco, L.M.; Gonzaga-Jauregui, C.; Gambin, T.; Gelowani, V.; Hunter, J.V.; Yesil, G.; Koparir, E.; Yilmaz, S.; Brown, M.; Briskin, D.; H, H.a.
    Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function (2014), Cell, 157, 636-650.
    View publication on PubMedView publication on EuropePMC

Protein Variants

EC Number Protein Variants Comment Organism
2.7.1.78 K127A inactive Homo sapiens
2.7.1.78 R140H the mutation negatively affects enzyme function Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

EC Number Organism UniProt Comment Textmining
2.7.1.78 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.1.78 fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

EC Number Synonyms Comment Organism
2.7.1.78 CLP1
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.7.1.78 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