THG1L Gene Summary [Human]

The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

Details

Type
Protein Coding
Official Symbol
THG1L
Official Name
tRNA-histidine guanylyltransferase 1 like [Source:HGNC Symbol;Acc:HGNC:26053]
Ensembl ID
ENSG00000113272
Bio databases IDs NCBI: 54974 Ensembl: ENSG00000113272
Aliases tRNA-histidine guanylyltransferase 1 like, interphase cytoplasmic foci protein 45, induced by high glucose-1
Synonyms hTHG1, ICF45, IHG-1, SCAR28, THG1, tRNA-histidine guanylyltransferase 1-like, tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human THG1L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • GTP binding
  • tRNA binding
  • tRNAHis guanylyltransferase
  • nucleotidyltransferase
  • guanyl-nucleotide exchange factor
  • Thg1 C terminal domain
  • ATP binding
  • tRNA guanylyltransferase
  • enzyme
  • protein binding
  • magnesium ion binding
  • identical protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • autosomal recessive spinocerebellar ataxia type 28
  • neurodevelopmental disorder
regulated by
regulates
role in cell
  • proliferation
  • apoptosis
  • quantity
  • growth
  • fusion

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • centrosome
  • Mitochondria
  • cytoplasmic aggregates
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human THG1L gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • response to oxidative stress
  • protein homotetramerization
  • tRNA processing
  • mitochondrial fusion
  • tRNA modification

Cellular Component

Where in the cell the gene product is active
  • mitochondrion
  • cytosol
  • mitochondrial outer membrane

Molecular Function

What the gene product does at the molecular level
  • GTP binding
  • magnesium ion binding
  • ATP binding
  • identical protein binding
  • tRNA guanylyltransferase activity
  • nucleotidyltransferase activity
  • protein binding
  • guanyl-nucleotide exchange factor activity
  • tRNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.