TRNT1 (tRNA nucleotidyl transferase 1)

2021-06-01  

Identity

HGNC
TRNT1
LOCATION
3p26.2
LOCUSID
51095
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
372394032023TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins.0
372394032023TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins.0
345107122022A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.4
348645482022Genes for tRNA recycling are upregulated in response to infection with Theiler's mouse encephalitis virus.0
345107122022A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.4
348645482022Genes for tRNA recycling are upregulated in response to infection with Theiler's mouse encephalitis virus.0
343109352021Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene.4
343109352021Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene.4
307587232019Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.8
309592222019Analysis of the pathogenic I326T variant of human tRNA nucleotidyltransferase reveals reduced catalytic activity and thermal stability in vitro linked to a conformational change.3
315125542019Exploration of CCA-added RNAs revealed the expression of mitochondrial non-coding RNAs regulated by CCA-adding enzyme.6
307587232019Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.8
309592222019Analysis of the pathogenic I326T variant of human tRNA nucleotidyltransferase reveals reduced catalytic activity and thermal stability in vitro linked to a conformational change.3
315125542019Exploration of CCA-added RNAs revealed the expression of mitochondrial non-coding RNAs regulated by CCA-adding enzyme.6
293582862018Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.17

Citation

Dessen P

TRNT1 (tRNA nucleotidyl transferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

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