Property Summary

NCBI Gene PubMed Count 22
Grant Count 25
R01 Count 17
Funding $4,897,883.74
PubMed Score 60.36
PubTator Score 9.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
hepatocellular carcinoma 1.100 0.000
osteosarcoma 1.252 0.006
juvenile dermatomyositis 1.276 0.000
acute quadriplegic myopathy 1.150 0.000
primary Sjogren syndrome 1.100 0.001
acute myeloid leukemia -1.100 0.033
ovarian cancer 1.600 0.005

Gene RIF (11)

PMID Text
26494905 two non-syndromic retinitis pigmentosa pedigrees with segregating mutations in TRNT1
25958396 The discriminator base represents an important substrate recognition element for tRNA nucleotidyltransferases.
25849199 A model of action is proposed, where motif C forms a flexible spring element modulating the relative orientation of the enzyme's head and body domains to accommodate the growing 3'-end of the tRNA.
25652405 The clinical phenotypes associated with TRNT1 mutations are largely due to impaired mitochondrial translation, resulting from defective CCA addition to mitochondrial tRNA(Ser(AGY)).
25640237 Tandem CCA addition is not the result of a modified enzymatic activity that is particular to unstable RNAs. Rather, it is a consequence of the natural activity of the CCA-adding enzyme on a substrate with increased conformational flexibility, the CCA-adding enzyme is able to trigger the degradation of potentially detrimental small RNAs and tRNAs.
25193871 The patient-associated TRNT1 mutations result in partial loss of function of TRNT1 and lead to metabolic defects in both the mitochondria and cytosol, which can account for the phenotypic pleiotropy.
20877624 Observational study of gene-disease association. (HuGE Navigator)
18575231 is a RNA polymerase which newly adds CCA sequence to tRNA 3'terminal. This reaction was named as Vice-Anchored Knock-in and Lock Dynamics.[review]
17204286 These findings strongly suggest that the splice variant of the human CCA-adding enzyme is expressed in the cell although the in vivo function remains unclear.
12729736 The crystal structure reveals a four domain architecture with a cluster of conserved residues forming a positively charged cleft between the first two domains.
More...

AA Sequence

MLRCLYHWHRPVLNRRWSRLCLPKQYLFTMKLQSPEFQSLFTEGLKSLTELFVKENHELRIAGGAVRDLL      1 - 70
NGVKPQDIDFATTATPTQMKEMFQSAGIRMINNRGEKHGTITARLHEENFEITTLRIDVTTDGRHAEVEF     71 - 140
TTDWQKDAERRDLTINSMFLGFDGTLFDYFNGYEDLKNKKVRFVGHAKQRIQEDYLRILRYFRFYGRIVD    141 - 210
KPGDHDPETLEAIAENAKGLAGISGERIWVELKKILVGNHVNHLIHLIYDLDVAPYIGLPANASLEEFDK    211 - 280
VSKNVDGFSPKPVTLLASLFKVQDDVTKLDLRLKIAKEEKNLGLFIVKNRKDLIKATDSSDPLKPYQDFI    281 - 350
IDSREPDATTRVCELLKYQGEHCLLKEMQQWSIPPFPVSGHDIRKVGISSGKEIGALLQQLREQWKKSGY    351 - 420
QMEKDELLSYIKKT                                                            421 - 434
//

Text Mined References (29)

PMID Year Title
26494905 2016 Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
25958396 2015 The identity of the discriminator base has an impact on CCA addition.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25849199 2015 Domain movements during CCA-addition: a new function for motif C in the catalytic core of the human tRNA nucleotidyltransferases.
25652405 2015 The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
25640237 2015 On-enzyme refolding permits small RNA and tRNA surveillance by the CCA-adding enzyme.
25193871 2014 Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
More...