THG1L

Chr 5q33.3

tRNA-histidine guanylyltransferase 1 like

Aliases:: ICF45, FLJ11601, FLJ20546, IHG-1, hTHG1
MANE:: ENST00000231198.12

OMIM: 618802 ↗NCBI: 54974 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

THG1L · Q9NWX6

v62025-08-01

Predicted Aligned Error matrix for THG1L — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.4/ 100

Confident

298 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)8%
Low(50–70)2%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

spinocerebellar ataxia, autosomal recessive 28
0.56
neurodevelopmental disorder
0.41
hereditary disease
0.19
Brugada syndrome
0.08
Romano-Ward syndrome
0.08
familial long QT syndrome
0.08
familial atrial fibrillation
0.07
Hirschsprung disease
0.07
Familial progressive cardiac conduction defect
0.06
Wolff-Parkinson-White syndrome
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Probable tRNA(His) guanylyltransferase

Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis (Probable). Also functions as a guanyl-nucleotide exchange factor/GEF for the MFN1 and MFN2 mitofusins thereby regulating mitochondrial fusion (PubMed:25008184, PubMed:27307223). By regulating both mitochondrial dynamics and bioenergetic function, it contributes to cell survival following oxidative stress (PubMed:25008184, PubMed:27307223)