THG1L

THG1L is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. THG1L appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of it is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His).

Full Name

tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)

Function

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).

Biological Process

Biological Process mitochondrial fusionSource:UniProtKB1 Publication
Biological Process protein homotetramerizationSource:UniProtKB1 Publication
Biological Process response to oxidative stressSource:UniProtKB1 Publication
Biological Process stress-induced mitochondrial fusionSource:UniProtKB1 Publication
Biological Process tRNA modificationSource:UniProtKB
Biological Process tRNA processingSource:UniProtKB1 Publication

Cellular Location

Cytoplasm
Mitochondrion outer membrane

Involvement in disease

Spinocerebellar ataxia, autosomal recessive, 28 (SCAR28):
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR28 patients manifest mild motor developmental delay, gait ataxia, and dysarthria. Some patients show mildly impaired intellectual development. Disease onset is in early childhood.