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

Stable Identifier
Reaction [transition]
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
12621050 Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation

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

J. Biol. Chem. 2003
11504732 Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases

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

J. Biol. Chem. 2001
25193871 Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

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

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

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

Hum. Mol. Genet. 2015
Event Information
Catalyst Activity

5'-3' RNA polymerase activity of TRNT1 [mitochondrial matrix]

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