Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.1.1.-
Transferases;
Transferring one-carbon groups;
Methyltransferases;
2.1.1.218
Transferases;
Transferring one-carbon groups;
Methyltransferases;
tRNA (adenine9-N1)-methyltransferase
2.1.1.221
Transferases;
Transferring one-carbon groups;
Methyltransferases;
tRNA (guanine9-N1)-methyltransferase
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0080009 | mRNA methylation |
| Biological Process | GO:0000964 | mitochondrial RNA 5'-end processing |
| Biological Process | GO:1990180 | mitochondrial tRNA 3'-end processing |
| Biological Process | GO:0097745 | mitochondrial tRNA 5'-end processing |
| Biological Process | GO:0070901 | mitochondrial tRNA methylation |
| Biological Process | GO:0090646 | mitochondrial tRNA processing |
| Biological Process | GO:0070131 | positive regulation of mitochondrial translation |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0061953 | mRNA (adenine-N1-)-methyltransferase activity |
| Molecular Function | GO:0016429 | tRNA (adenine-N1-)-methyltransferase activity |
| Molecular Function | GO:0052905 | tRNA (guanine(9)-N(1))-methyltransferase activity |
| Molecular Function | GO:0009019 | tRNA (guanine-N1-)-methyltransferase activity |
| Molecular Function | GO:0000049 | tRNA binding |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0042645 | mitochondrial nucleoid |
| Cellular Component | GO:0030678 | mitochondrial ribonuclease P complex |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0043527 | tRNA methyltransferase complex |
| InterPro
|
InterPro name |
|---|---|
| IPR007356 | tRNA (guanine-N1-)-methyltransferase, eukaryotic |
| IPR016009 | tRNA methyltransferase TRMD/TRM10-type domain |
| IPR025812 | tRNA methyltransferase 10 homologue C, SAM-dependent MTase TRM10-type |
| IPR028564 | tRNA methyltransferase TRM10-type domain |
| IPR038459 | tRNA methyltransferase TRM10-type domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF01746 | tRNA (Guanine-1)-methyltransferase |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-6785470 | tRNA processing in the mitochondrion | Leaf | R-HSA-8953854 | Metabolism of RNA |
| R-HSA-6787450 | tRNA modification in the mitochondrion | Leaf | R-HSA-8953854 | Metabolism of RNA |
| R-HSA-8868766 | rRNA processing in the mitochondrion | Internal node | R-HSA-8953854 | Metabolism of RNA |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion matrix, mitochondrion nucleoid | ECO:0000269 | PubMed:18984158 |
| Mitochondrion matrix, mitochondrion nucleoid | ECO:0000269 | PubMed:23473034 |
| Mitochondrion matrix, mitochondrion nucleoid | ECO:0000269 | PubMed:24703694 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0001252 | Hypotonia |
| HP:0001410 | Decreased liver function |
| HP:0001508 | Failure to thrive |
| HP:0001522 | Death in infancy |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002033 | Poor suck |
| HP:0002098 | Respiratory distress |
| HP:0002126 | Polymicrogyria |
| HP:0002151 | Increased serum lactate |
| HP:0002490 | Increased CSF lactate |
| HP:0003128 | Lactic acidosis |
| HP:0003348 | Hyperalaninemia |
| HP:0003623 | Neonatal onset |
| HP:0011968 | Feeding difficulties |
| HP:0030948 | Elevated gamma-glutamyltransferase level |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration |
| HP:0032653 | Elevated lactate:pyruvate ratio |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| combined oxidative phosphorylation defect type 30 | MONDO:0014856 | G93 | chapter6, Diseases of the nervous system | OMIM:616974 | Orphanet:478042 |