TRNT1 (tRNA nucleotidyl transferase 1)

2021-06-01  

Identity

HGNC
LOCATION
3p26.2
LOCUSID
ALIAS
CCA1,CGI-47,MtCCA,RPEM,SIFD

Other Information

Locus ID:

NCBI: 51095
MIM: 612907
HGNC: 17341
Ensembl: ENSG00000072756

Variants:

dbSNP: 51095
ClinVar: 51095
TCGA: ENSG00000072756
COSMIC: TRNT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072756ENST00000251607Q96Q11
ENSG00000072756ENST00000280591Q96Q11
ENSG00000072756ENST00000339437Q96Q11
ENSG00000072756ENST00000397779F8W8C3
ENSG00000072756ENST00000402675Q96Q11
ENSG00000072756ENST00000413000C9JRS7
ENSG00000072756ENST00000420393Q96Q11
ENSG00000072756ENST00000434583Q96Q11
ENSG00000072756ENST00000650755A0A494C1P4
ENSG00000072756ENST00000650814A0A494C1L4
ENSG00000072756ENST00000650839A0A494C1D4
ENSG00000072756ENST00000651093A0A494C181
ENSG00000072756ENST00000651316A0A494C0Y2
ENSG00000072756ENST00000651352A0A494C0A0
ENSG00000072756ENST00000651591A0A494BZV5
ENSG00000072756ENST00000652340A0A494C0N8

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA processing in the nucleusREACTOMER-HSA-6784531
tRNA processing in the mitochondrionREACTOMER-HSA-6785470

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
251938712014Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).49
127297362003Crystal structure of the human CCA-adding enzyme: insights into template-independent polymerization.27
256402372015On-enzyme refolding permits small RNA and tRNA surveillance by the CCA-adding enzyme.27
264949052016Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.22
256524052015The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.19
117278262001A eubacterial origin for the human tRNA nucleotidyltransferase?17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
283909922017Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa.12
259583962015The identity of the discriminator base has an impact on CCA addition.7
273895232016Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.7

Citation

Dessen P

TRNT1 (tRNA nucleotidyl transferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58353/trnt1