TRNT1 polymerizes CCA at the 3' end of pre-tRNA

Stable Identifier
R-HSA-6786881
Type
Reaction [transition]
Species
Homo sapiens
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TRNT1 (CCA-adding enzyme) polymerizes a nontemplated CCA sequence on the 3' end of mitochondrial tRNA (Nagaike et al. 2001). Mutations in TRNT1 or tRNAs that affect the rate of CCA addition cause pathological consequences in humans (Tomari et al. 2003, Chakraborty et al. 2014, Sasarman et al. 2015).

Literature References
PubMed ID Title Journal Year
11504732 Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases

Nagaike, T, Suzuki, T, Tomari, Y, Takemoto-Hori, C, Negayama, F, Watanabe, K, Ueda, T

J. Biol. Chem. 2001
12621050 Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation

Tomari, Y, Hino, N, Nagaike, T, Suzuki, T, Ueda, T

J. Biol. Chem. 2003
25193871 Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Chakraborty, PK, Schmitz-Abe, K, Kennedy, EK, Mamady, H, Naas, T, Durie, D, Campagna, DR, Lau, A, Sendamarai, AK, Wiseman, DH, May, A, Jolles, S, Connor, P, Powell, C, Heeney, MM, Giardina, PJ, Klaassen, RJ, Kannengiesser, C, Thuret, I, Thompson, AA, Marques, L, Hughes, S, Bonney, DK, Bottomley, SS, Wynn, RF, Laxer, RM, Minniti, CP, Moppett, J, Bordon, V, Geraghty, M, Joyce, PB, Markianos, K, Rudner, AD, Holcik, M, Fleming, MD

Blood 2014
25652405 The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1

Sasarman, F, Thiffault, I, Weraarpachai, W, Salomon, S, Maftei, C, Gauthier, J, Ellazam, B, Webb, N, Antonicka, H, Janer, A, Brunel-Guitton, C, Elpeleg, O, Mitchell, G, Shoubridge, EA

Hum. Mol. Genet. 2015
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Catalyst Activity
Title
5'-3' RNA polymerase activity of TRNT1 [mitochondrial matrix]
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