TRNT1
entrez
51095
canonical
uniprot
Q96Q11
canonical
ensembl
ENSG00000072756
resolver
ensp
ENSP00000251607
resolver
ensp
ENSP00000280591
resolver
ensp
ENSP00000513705
resolver
ensp
ENSP00000536321
resolver
ensp
ENSP00000595809
resolver
ensp
ENSP00000700309
resolver
genesymbol
TRNT1
resolver
hgnc
HGNC:17341
resolver
uniprot
A8K2Z6
resolver
uniprot
B7WP13
resolver
uniprot
C9JKA2
resolver
uniprot
Q8ND57
resolver
uniprot
Q9BS97
resolver
uniprot
Q9Y362
resolver
uniprot_entry
TRNT1_HUMAN
resolver
uniprot_sec
A8K2Z6
resolver
uniprot_sec
B7WP13
resolver
uniprot_sec
C9JKA2
resolver
uniprot_sec
Q8ND57
resolver
uniprot_sec
Q9BS97
resolver
uniprot_sec
Q9Y362
resolver
amino_acid_sequence
MLRCLYHWHRPVLNRRWSRLCLPKQYLFTMKLQSPEFQSLFTEGLKSLTELFVKENHELRIAGGAVRDLLNGVKPQDIDFATTATPTQMKEMFQSAGIRMINNRGEKHGTITARLHEENFEITTLRIDVTTDGRHAEVEFTTDWQKDAERRDLTINSMFLGFDGTLFDYFNGYEDLKNKKVRFVGHAKQRIQEDYLRILRYFRFYGRIVDKPGDHDPETLEAIAENAKGLAGISGERIWVELKKILVGNHVNHLIHLIYDLDVAPYIGLPANASLEEFDKVSKNVDGFSPKPVTLLASLFKVQDDVTKLDLRLKIAKEEKNLGLFIVKNRKDLIKATDSSDPLKPYQDFIIDSREPDATTRVCELLKYQGEHCLLKEMQQWSIPPFPVSGHDIRKVGISSGKEIGALLQQLREQWKKSGYQMEKDELLSYIKKT
uniprot
proteins
disease_involvement
DISEASE: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) [MIM:616084]: An autosomal recessive disease characterized by severe sideroblastic anemia with onset in the neonatal period or infancy, recurrent periodic fevers without an infectious etiology, B-cell lymphopenia and hypogammaglobulinemia. Affected individuals show delayed psychomotor development with variable neurodegeneration. Additional variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. {ECO:0000269|PubMed:25193871, ECO:0000269|PubMed:25652405, ECO:0000269|PubMed:27317422, ECO:0000269|PubMed:27370603, ECO:0000269|PubMed:27531075, ECO:0000269|PubMed:29055896, ECO:0000269|PubMed:29170023, ECO:0000269|PubMed:29358286, ECO:0000269|PubMed:29454993, ECO:0000269|PubMed:30959222, ECO:0000269|PubMed:32181284, ECO:0000269|PubMed:34310935}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa and erythrocytic microcytosis (RPEM) [MIM:616959]: An autosomal recessive disease characterized by retinitis pigmentosa, red blood cell microcytosis and anisocytosis with mild anemia. {ECO:0000269|PubMed:26494905}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.7.72
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:11504732, ECO:0000269|PubMed:22076379, ECO:0000269|PubMed:25193871, ECO:0000269|PubMed:25640237, ECO:0000269|PubMed:25652405, ECO:0000269|PubMed:29454993, ECO:0000269|PubMed:30959222, ECO:0000269|PubMed:31011209, ECO:0000269|PubMed:34023389}.; FUNCTION: [Isoform 2]: Adds 2 C residues (CC-) to the 3' terminus of tRNA molecules instead of a complete CCA end as isoform 1 does (in vitro). {ECO:0000269|PubMed:17204286}.
uniprot
proteins
mass_dalton
50128
uniprot
proteins
mutagenesis
MUTAGEN 326; /note="I->A: Decreased CCA tRNA nucleotidyltransferase activity; abolished homodimerization and disulfide bond formation."; /evidence="ECO:0000269|PubMed:30959222"; MUTAGEN 373; /note="C->A: Abolished homodimerization and disulfide bond formation."; /evidence="ECO:0000269|PubMed:30959222
uniprot
proteins
protein_family
TRNA nucleotidyltransferase/poly(A) polymerase family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11256614
uniprot
proteins
pubmed
11504732
uniprot
proteins
pubmed
12729736
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17204286
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22076379
uniprot
proteins
pubmed
25193871
uniprot
proteins
pubmed
25640237
uniprot
proteins
pubmed
25652405
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26494905
uniprot
proteins
pubmed
27317422
uniprot
proteins
pubmed
27370603
uniprot
proteins
pubmed
27531075
uniprot
proteins
pubmed
29055896
uniprot
proteins
pubmed
29170023
uniprot
proteins
pubmed
29358286
uniprot
proteins
pubmed
29454993
uniprot
proteins
pubmed
30959222
uniprot
proteins
pubmed
31011209
uniprot
proteins
pubmed
32181284
uniprot
proteins
pubmed
34023389
uniprot
proteins
pubmed
34310935
uniprot
proteins
sequence_length
434
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11256614, ECO:0000269|PubMed:27317422, ECO:0000305|PubMed:11504732}. Cytoplasm {ECO:0000269|PubMed:27317422, ECO:0000305|PubMed:11504732}. Nucleus {ECO:0000269|PubMed:27317422}.
uniprot
proteins