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Literature summary for 2.1.1.221 extracted from

  • Igoillo-Esteve, M.; Genin, A.; Lambert, N.; Desir, J.; Pirson, I.; Abdulkarim, B.; Simonis, N.; Drielsma, A.; Marselli, L.; Marchetti, P.; Vanderhaeghen, P.; Eizirik, D.; Wuyts, W.; Julier, C.; Chakera, A.; Ellard, S.; Hattersley, A.; Abramowicz, M.; Cno
    tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans (2013), PLoS Genet., 9, e1003888.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.1.1.221

Cloned(Commentary)

Cloned (Comment) Organism
gene TRMT10A or RG9MTD2, genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
R127stop naturally occuring nonsene mutation involved in the syndrome of young onset diabetes Homo sapiens

Localization

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/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens Q8TBZ6 gene TRMT10A or RG9MTD2
-

Source Tissue

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 and Products (Substrate)

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

Synonyms Comment Organism
TRMT10A
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
S-adenosyl-L-methionine
-
 Homo sapiens

General Information

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