Details for: TRNT1

Gene ID: 51095

Symbol: TRNT1

Ensembl ID: ENSG00000072756

Description: tRNA nucleotidyl transferase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 155.6460
    Cell Significance Index: -24.2100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 89.1015
    Cell Significance Index: -22.6000
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 61.1971
    Cell Significance Index: -25.2100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 55.1128
    Cell Significance Index: -26.0200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 55.0944
    Cell Significance Index: -22.3800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 23.5247
    Cell Significance Index: -22.4600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 20.4144
    Cell Significance Index: -25.1700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.2427
    Cell Significance Index: -24.7600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.4850
    Cell Significance Index: -25.5900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.5967
    Cell Significance Index: -17.1900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.1997
    Cell Significance Index: -11.3800
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.6433
    Cell Significance Index: 26.3700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.5891
    Cell Significance Index: 157.2000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9590
    Cell Significance Index: 104.3200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.9374
    Cell Significance Index: 25.0300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.9033
    Cell Significance Index: 54.2300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8725
    Cell Significance Index: 787.7800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7499
    Cell Significance Index: 148.8200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7080
    Cell Significance Index: 9.6600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.6124
    Cell Significance Index: 16.6700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6058
    Cell Significance Index: 27.4600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5411
    Cell Significance Index: 15.5900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4947
    Cell Significance Index: 89.1800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4870
    Cell Significance Index: 97.6900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4799
    Cell Significance Index: 59.0100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4702
    Cell Significance Index: 32.5200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.4207
    Cell Significance Index: 61.1500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3931
    Cell Significance Index: 20.4200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3804
    Cell Significance Index: 10.6300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3047
    Cell Significance Index: 41.8400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2832
    Cell Significance Index: 7.0800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2619
    Cell Significance Index: 143.0100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2431
    Cell Significance Index: 13.6400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2431
    Cell Significance Index: 168.1700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2411
    Cell Significance Index: 15.5600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2281
    Cell Significance Index: 14.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2273
    Cell Significance Index: 81.5300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1943
    Cell Significance Index: 22.9100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1870
    Cell Significance Index: 3.6500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1767
    Cell Significance Index: 8.3100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1608
    Cell Significance Index: 71.1100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1550
    Cell Significance Index: 11.9000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1281
    Cell Significance Index: 24.3700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1092
    Cell Significance Index: 5.0900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0847
    Cell Significance Index: 5.9900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0809
    Cell Significance Index: 5.1000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0736
    Cell Significance Index: 9.4300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0546
    Cell Significance Index: 1.9200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0454
    Cell Significance Index: 1.3000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0400
    Cell Significance Index: 1.7700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0372
    Cell Significance Index: 57.2600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0369
    Cell Significance Index: 2.7500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0318
    Cell Significance Index: 0.6900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0281
    Cell Significance Index: 17.8200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0280
    Cell Significance Index: 0.4800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0279
    Cell Significance Index: 51.4100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0271
    Cell Significance Index: 51.0500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0239
    Cell Significance Index: 0.6400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0164
    Cell Significance Index: 22.3100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0158
    Cell Significance Index: 0.6000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0056
    Cell Significance Index: 2.5500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0008
    Cell Significance Index: 0.5700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0047
    Cell Significance Index: -0.6100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0097
    Cell Significance Index: -0.1400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0175
    Cell Significance Index: -1.1800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0179
    Cell Significance Index: -13.5700
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0242
    Cell Significance Index: -0.5600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0261
    Cell Significance Index: -19.3500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0338
    Cell Significance Index: -0.7200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0384
    Cell Significance Index: -21.6300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0452
    Cell Significance Index: -28.2500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0491
    Cell Significance Index: -8.3900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0537
    Cell Significance Index: -5.4900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0708
    Cell Significance Index: -20.3700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0925
    Cell Significance Index: -10.6000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0950
    Cell Significance Index: -11.0800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1221
    Cell Significance Index: -3.2100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1233
    Cell Significance Index: -3.1700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1293
    Cell Significance Index: -27.2400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1352
    Cell Significance Index: -7.0400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1384
    Cell Significance Index: -3.3200
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1688
    Cell Significance Index: -1.0200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1735
    Cell Significance Index: -9.1100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2063
    Cell Significance Index: -4.2800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2193
    Cell Significance Index: -4.5900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2201
    Cell Significance Index: -7.0500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2213
    Cell Significance Index: -23.0400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2323
    Cell Significance Index: -3.4300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2342
    Cell Significance Index: -3.9200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2506
    Cell Significance Index: -19.8500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2591
    Cell Significance Index: -7.6100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2713
    Cell Significance Index: -6.9300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2791
    Cell Significance Index: -2.5700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2927
    Cell Significance Index: -10.1700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2996
    Cell Significance Index: -18.3700
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.3073
    Cell Significance Index: -4.4200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3832
    Cell Significance Index: -8.3900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3925
    Cell Significance Index: -10.5000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4089
    Cell Significance Index: -11.6700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4278
    Cell Significance Index: -9.0800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Location**: The TRNT1 gene is primarily expressed in the mitochondria, specifically in the mitochondrial matrix. 2. **Function**: The enzyme adds the CCA sequence to the 3'-end of mature tRNAs, a crucial step in the processing of tRNAs. 3. **Expression**: The TRNT1 gene is significantly expressed in various cell types, including hematopoietic oligopotent progenitor cells, embryonic stem cells, and smooth muscle fibers of the ileum. 4. **Cellular localization**: The enzyme is localized in the mitochondrial matrix, where it plays a critical role in the processing of tRNAs. **Pathways and Functions:** 1. **Mitochondrial tRNA processing**: The TRNT1 enzyme is involved in the processing of tRNAs in the mitochondrial matrix, where it adds the CCA sequence to the 3'-end of mature tRNAs. 2. **5'-3' RNA polymerase activity**: The enzyme has been shown to possess 5'-3' RNA polymerase activity, which is essential for the processing of tRNAs. 3. **Metal ion binding**: The TRNT1 enzyme has been shown to bind metal ions, which is necessary for its catalytic activity. 4. **Trna 3'-end processing**: The enzyme is involved in the processing of tRNAs at the 3'-end, where it adds the CCA sequence. 5. **Trna surveillance**: The TRNT1 enzyme is involved in the surveillance of tRNAs, ensuring that only mature tRNAs are released into the cytosol. **Clinical Significance:** 1. **Mitochondrial disorders**: Mutations in the TRNT1 gene have been associated with mitochondrial disorders, such as mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). 2. **Neurodegenerative diseases**: The TRNT1 enzyme has been implicated in the pathogenesis of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 3. **Cancer**: The TRNT1 gene has been shown to be overexpressed in certain types of cancer, including leukemia and lymphoma. 4. **Regulatory T cells**: The TRNT1 enzyme has been shown to play a critical role in the regulation of regulatory T cells, which are essential for maintaining immune tolerance. In conclusion, the TRNT1 gene encodes for a crucial enzyme involved in the processing of tRNAs in the mitochondrial matrix. The enzyme plays a critical role in the mitochondrial translation process and has been implicated in various diseases, including mitochondrial disorders, neurodegenerative diseases, and cancer. Further research is needed to fully understand the functional significance of the TRNT1 enzyme and its role in human disease.

Genular Protein ID: 3094041751

Symbol: TRNT1_HUMAN

Name: Mitochondrial tRNA nucleotidyl transferase, CCA-adding

UniProtKB Accession Codes:

Q96Q11 A8K2Z6 B7WP13 C9JKA2 Q8ND57 Q9BS97 Q9Y362

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 27 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EC 1 EMBL 8 EMDB 1 Ensembl 9 EvolutionaryTrace 1 ExpressionAtlas 1 GO 17 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 2 RefSeq 5 Rhea 8 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11504732

Title: Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases.

PubMed ID: 11504732

DOI: 10.1074/jbc.m106202200

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11256614

Title: Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.

PubMed ID: 11256614

DOI: 10.1093/embo-reports/kvd058

PubMed ID: 17204286

Title: A splice variant of the human CCA-adding enzyme with modified activity.

PubMed ID: 17204286

DOI: 10.1016/j.jmb.2006.12.016

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 22076379

Title: tRNAs marked with CCACCA are targeted for degradation.

PubMed ID: 22076379

DOI: 10.1126/science.1213671

PubMed ID: 31011209

Title: Mechanism for recycling tRNAs on stalled ribosomes.

PubMed ID: 31011209

DOI: 10.1038/s41594-019-0211-4

PubMed ID: 34023389

Title: Mechanistic insights into mitochondrial tRNAAla 3'-end metabolism deficiency.

PubMed ID: 34023389

DOI: 10.1016/j.jbc.2021.100816

PubMed ID: 25193871

Title: Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

PubMed ID: 25193871

DOI: 10.1182/blood-2014-08-591370

PubMed ID: 25652405

Title: The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

PubMed ID: 25652405

DOI: 10.1093/hmg/ddv044

PubMed ID: 26494905

Title: Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

PubMed ID: 26494905

DOI: 10.1093/hmg/ddv446

PubMed ID: 27317422

Title: Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.

PubMed ID: 27317422

DOI: 10.1186/s13023-016-0466-3

PubMed ID: 27370603

Title: TRNT1 deficiency: clinical, biochemical and molecular genetic features.

PubMed ID: 27370603

DOI: 10.1186/s13023-016-0477-0

PubMed ID: 27531075

Title: Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood.

PubMed ID: 27531075

DOI: 10.1016/j.jaci.2016.06.050

PubMed ID: 29358286

Title: Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

PubMed ID: 29358286

DOI: 10.1136/annrheumdis-2017-212401

PubMed ID: 29454993

Title: In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity.

PubMed ID: 29454993

DOI: 10.1016/j.bbapap.2018.02.002

PubMed ID: 29170023

Title: Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.

PubMed ID: 29170023

DOI: 10.1016/j.clim.2017.11.008

PubMed ID: 29055896

Title: SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis.

PubMed ID: 29055896

DOI: 10.1136/jclinpath-2017-204698

PubMed ID: 30959222

Title: Analysis of the pathogenic I326T variant of human tRNA nucleotidyltransferase reveals reduced catalytic activity and thermal stability in vitro linked to a conformational change.

PubMed ID: 30959222

DOI: 10.1016/j.bbapap.2019.04.003

PubMed ID: 32181284

Title: Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects.

PubMed ID: 32181284

DOI: 10.1016/j.gendis.2020.01.005

PubMed ID: 34310935

Title: Two 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.

PubMed ID: 34310935

DOI: 10.1016/j.cca.2021.07.019

PubMed ID: 12729736

Title: Crystal structure of the human CCA-adding enzyme: insights into template-independent polymerization.

PubMed ID: 12729736

DOI: 10.1016/s0022-2836(03)00381-4

PubMed ID: 25640237

Title: On-enzyme refolding permits small RNA and tRNA surveillance by the CCA-adding enzyme.

PubMed ID: 25640237

DOI: 10.1016/j.cell.2015.01.005

Sequence Information:

  • Length: 434
  • Mass: 50128
  • Checksum: 60B7387E203A53D0
  • Sequence:
    • MLRCLYHWHR PVLNRRWSRL CLPKQYLFTM KLQSPEFQSL FTEGLKSLTE LFVKENHELR 
IAGGAVRDLL NGVKPQDIDF ATTATPTQMK EMFQSAGIRM INNRGEKHGT ITARLHEENF 
EITTLRIDVT TDGRHAEVEF TTDWQKDAER RDLTINSMFL GFDGTLFDYF NGYEDLKNKK 
VRFVGHAKQR IQEDYLRILR YFRFYGRIVD KPGDHDPETL EAIAENAKGL AGISGERIWV 
ELKKILVGNH VNHLIHLIYD LDVAPYIGLP ANASLEEFDK VSKNVDGFSP KPVTLLASLF 
KVQDDVTKLD LRLKIAKEEK NLGLFIVKNR KDLIKATDSS DPLKPYQDFI IDSREPDATT 
RVCELLKYQG EHCLLKEMQQ WSIPPFPVSG HDIRKVGISS GKEIGALLQQ LREQWKKSGY 
QMEKDELLSY IKKT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.