TRMT5
entrez
57570
canonical
uniprot
Q32P41
canonical
ensembl
ENSG00000126814
resolver
ensp
ENSP00000261249
resolver
enst
ENST00000261249
resolver
genesymbol
TRMT5
resolver
genesymbol_syn
KIAA1393
resolver
genesymbol_syn
TRM5
resolver
hgnc
HGNC:23141
resolver
uniprot
B2RN19
resolver
uniprot
Q9P2F4
resolver
uniprot_entry
TRM5_HUMAN
resolver
uniprot_sec
B2RN19
resolver
uniprot_sec
Q9P2F4
resolver
amino_acid_sequence
MVLWILWRPFGFSGRFLKLESHSITESKSLIPVAWTSLTQMLLEAPGIFLLGQRKRFSTMPETETHERETELFSPPSDVRGMTKLDRTAFKKTVNIPVLKVRKEIVSKLMRSLKRAALQRPGIRRVIEDPEDKESRLIMLDPYKIFTHDSFEKAELSVLEQLNVSPQISKYNLELTYEHFKSEEILRAVLPEGQDVTSGFSRIGHIAHLNLRDHQLPFKHLIGQVMIDKNPGITSAVNKINNIDNMYRNFQMEVLSGEQNMMTKVRENNYTYEFDFSKVYWNPRLSTEHSRITELLKPGDVLFDVFAGVGPFAIPVAKKNCTVFANDLNPESHKWLLYNCKLNKVDQKVKVFNLDGKDFLQGPVKEELMQLLGLSKERKPSVHVVMNLPAKAIEFLSAFKWLLDGQPCSSEFLPIVHCYSFSKDANPAEDVRQRAGAVLGISLEACSSVHLVRNVAPNKEMLCITFQIPASVLYKNQTRNPENHEDPPLKRQRTAEAFSDEKTQIVSNT
uniprot
proteins
disease_involvement
DISEASE: Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay (PNSED) [MIM:616539]: An autosomal recessive mitochondrial disorder with multisystemic and highly variable manifestations. Affected individuals suffer from a peripheral neuropathy, with distal muscle weakness and atrophy, and distal sensory impairment. Additional variable features include early-onset hypotonia and global developmental delay, poor or absent motor skills, exercise intolerance, poor growth, cerebellar signs, spasticity, and seizures. Biochemical analysis may show deficiencies in mitochondrial respiratory complex. Lactic acidosis is frequently observed. {ECO:0000269|PubMed:26189817}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.228
uniprot
proteins
function
FUNCTION: Involved in mitochondrial tRNA methylation (PubMed:26189817). Specifically methylates the N1 position of guanosine-37 in various tRNAs. Methylation is not dependent on the nature of the nucleoside 5' of the target nucleoside. This is the first step in the biosynthesis of wybutosine (yW), a modified base adjacent to the anticodon of tRNAs and required for accurate decoding. {ECO:0000269|PubMed:26189817}.
uniprot
proteins
mass_dalton
58256
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
TRM5/TYW2 family
uniprot
proteins
pubmed
10718198
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15248782
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
26189817
uniprot
proteins
sequence_length
509
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000255|HAMAP-Rule:MF_03152, ECO:0000269|PubMed:26189817}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03152}. Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03152}. Note=Predominantly in the mitochondria and in the nucleus. {ECO:0000255|HAMAP-Rule:MF_03152}.
uniprot
proteins