TRNT1

Chr 3p26.2

tRNA nucleotidyl transferase 1

Aliases:: MtCCA, CGI-47, CCA1
MANE:: ENST00000251607.11

OMIM: 612907 ↗NCBI: 51095 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TRNT1 · Q96Q11

v62025-08-01

Predicted Aligned Error matrix for TRNT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.3/ 100

Very high

434 residues

Confidence breakdown

Very high(≥ 90)84%
Confident(70–90)7%
Low(50–70)4%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Rare anaemia
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
0.84
retinitis pigmentosa and erythrocytic microcytosis
0.76
Retinal dystrophy
0.53
hereditary disease
0.47
autosomal recessive non-syndromic intellectual disability
0.41
sideroblastic anemia
0.37
arthropathy
0.32
neurodegenerative disease
0.29
aneurysm
0.29
genetic developmental and epileptic encephalopathy
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

CCA tRNA nucleotidyltransferase 1, mitochondrial

Nucleotidyltransferase that catalyzes the addition and repair of the essential 3'-terminal CCA sequence in tRNAs, which is necessary for the attachment of amino acids to the 3' terminus of tRNA molecules, using CTP and ATP as substrates (PubMed:11504732, PubMed:25193871, PubMed:25640237, PubMed:25652405, PubMed:29454993, PubMed:30959222, PubMed:31011209, PubMed:34023389). tRNA 3'-terminal CCA addition is required both for tRNA processing and repair (PubMed:22076379, PubMed:25640237). Promotes tRNA repair and recycling downstream of the ribosome-associated quality control (RQC) pathway by mediating addition of the tRNA 3'-terminal CCA following cleavage by ANKZF1 and repair by ELAC1 (PubMed:31011209). Also involved in tRNA surveillance by mediating tandem CCA addition to generate a CCACCA at the 3' terminus of unstable tRNAs and tRNA-like transcripts (PubMed:22076379, PubMed:25640237). While stable tRNAs receive only 3'-terminal CCA, unstable tRNAs beginning with GG are marked with CCACCA and rapidly degraded (PubMed:22076379, PubMed:25640237). The structural flexibility of RNA controls the choice between CCA versus CCACCA addition: following the first CCA addition cycle, nucleotide-binding to the active site triggers a clockwise screw motion, producing torque on the RNA (PubMed:25640237). This ejects stable RNAs, whereas unstable RNAs are refolded while bound to the enzyme and subjected to a second CCA catalytic cycle (PubMed:25640237)