Identity
HGNC
LOCATION
5q33.3
LOCUSID
ALIAS
ICF45,IHG-1,IHG1,SCAR28,THG1,hTHG1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54974
MIM: 618802
HGNC: 26053
Ensembl: ENSG00000113272
Variants:
dbSNP: 54974
ClinVar: 54974
TCGA: ENSG00000113272
COSMIC: THG1L
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000113272 | ENST00000231198 | Q9NWX6 |
| ENSG00000113272 | ENST00000521655 | E5RIQ8 |
| ENSG00000113272 | ENST00000523575 | H0YC78 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Gene Expression | REACTOME | R-HSA-74160 |
| tRNA processing | REACTOME | R-HSA-72306 |
| tRNA modification in the nucleus and cytosol | REACTOME | R-HSA-6782315 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36107775 | 2022 | Human Thg1 displays tRNA-inducible GTPase activity. | 0 |
| 36107775 | 2022 | Human Thg1 displays tRNA-inducible GTPase activity. | 0 |
| 33682303 | 2021 | Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population. | 2 |
| 33758037 | 2021 | Analysis of GTP addition in the reverse (3'-5') direction by human tRNA(His) guanylyltransferase. | 1 |
| 33682303 | 2021 | Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population. | 2 |
| 33758037 | 2021 | Analysis of GTP addition in the reverse (3'-5') direction by human tRNA(His) guanylyltransferase. | 1 |
| 27307223 | 2016 | A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. | 11 |
| 27307223 | 2016 | A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. | 11 |
| 25008184 | 2014 | IHG-1 increases mitochondrial fusion and bioenergetic function. | 6 |
| 25008184 | 2014 | IHG-1 increases mitochondrial fusion and bioenergetic function. | 6 |
| 22136300 | 2012 | Kinetic analysis of 3'-5' nucleotide addition catalyzed by eukaryotic tRNA(His) guanylyltransferase. | 17 |
| 22136300 | 2012 | Kinetic analysis of 3'-5' nucleotide addition catalyzed by eukaryotic tRNA(His) guanylyltransferase. | 17 |
| 21784897 | 2011 | IHG-1 promotes mitochondrial biogenesis by stabilizing PGC-1α. | 15 |
| 21784897 | 2011 | IHG-1 promotes mitochondrial biogenesis by stabilizing PGC-1α. | 15 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
Citation
Dessen P
THG1L (tRNA-histidine guanylyltransferase 1 like)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56058/thg1l-(trna-histidine-guanylyltransferase-1-like)
