Cloned (Comment) | Organism |
---|---|
gene TRMT10A or RG9MTD2, genotyping | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
R127stop | naturally occuring nonsene mutation involved in the syndrome of young onset diabetes | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
nucleus | TRMT10A has predominant nuclear localization. TRMT10A localizes to the nucleolus of beta- and non-beta-cells, where tRNA modifications occur | Homo sapiens | 5634 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
S-adenosyl-L-methionine + guanine9 in tRNA | Homo sapiens | - |
S-adenosyl-L-homocysteine + N1-methylguanine9 in tRNA | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q8TBZ6 | gene TRMT10A or RG9MTD2 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
adipose tissue | - |
Homo sapiens | - |
brain | TRMT10A is expressed in human embryonic and fetal brain, TRMT10A expression profile in fetal telencephalon, overview | Homo sapiens | - |
kidney | - |
Homo sapiens | - |
liver | - |
Homo sapiens | - |
lung | - |
Homo sapiens | - |
additional information | TRMT10A is ubiquitously expressed but enriched in brain and pancreatic islets | Homo sapiens | - |
pancreatic islet | - |
Homo sapiens | - |
spleen | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
S-adenosyl-L-methionine + guanine9 in tRNA | - |
Homo sapiens | S-adenosyl-L-homocysteine + N1-methylguanine9 in tRNA | - |
? |
Synonyms | Comment | Organism |
---|---|---|
TRMT10A | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
S-adenosyl-L-methionine | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | TRMT10A silencing induces human beta-cell apoptosis.. TRMT10A deficiency negatively affects beta-cell mass and the pool of neurons in the developing brain. A nonsense mutation R127stop in the enzyme is involved in the syndrome of young onset diabetes, short stature and microcephaly (small brain size) with intellectual disability in a large consanguineous family, TRMT10A mRNA and protein are absent in cells from affected siblings, phenotype, overview. Patients are homozygous for a nonsense mutation in TRMT10A and lose TRMT10A expression | Homo sapiens |