Literature summary for 2.7.1.78 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.

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Protein Variants

Protein Variants	Comment	Organism
K127A	inactive	Homo sapiens
R140H	the mutation negatively affects enzyme function	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	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Synonyms

Synonyms	Comment	Organism
CLP1	-	Homo sapiens

General Information

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

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Release 2023.1 (January 2023)