TRMT10A
entrez
93587
canonical
uniprot
Q8TBZ6
canonical
ensembl
ENSG00000145331
resolver
ensp
ENSP00000273962
resolver
ensp
ENSP00000378342
resolver
ensp
ENSP00000378343
resolver
ensp
ENSP00000561696
resolver
ensp
ENSP00000561697
resolver
ensp
ENSP00000633850
resolver
ensp
ENSP00000760396
resolver
enst
ENST00000273962
resolver
enst
ENST00000394876
resolver
enst
ENST00000394877
resolver
enst
ENST00000891637
resolver
enst
ENST00000891638
resolver
genesymbol
HEL-S-88
resolver
genesymbol
TRMT10A
resolver
genesymbol_syn
RG9MTD2
resolver
hgnc
HGNC:28403
resolver
uniprot
A0A024RDJ9
resolver
uniprot
B2R8X7
resolver
uniprot
Q9Y2T9
resolver
uniprot
V9HVY8
resolver
uniprot_entry
TM10A_HUMAN
resolver
uniprot_entry
V9HVY8_HUMAN
resolver
uniprot_sec
A0A024RDJ9
resolver
uniprot_sec
B2R8X7
resolver
uniprot_sec
Q9Y2T9
resolver
amino_acid_sequence
MSSEMLPAFIETSNVDKKQGINEDQEESQKPRLGEGCEPISKRQMKKLIKQKQWEEQRELRKQKRKEKRKRKKLERQCQMEPNSDGHDRKRVRRDVVHSTLRLIIDCSFDHLMVLKDIKKLHKQIQRCYAENRRALHPVQFYLTSHGGQLKKNMDENDKGWVNWKDIHIKPEHYSELIKKEDLIYLTSDSPNILKELDESKAYVIGGLVDHNHHKGLTYKQASDYGINHAQLPLGNFVKMNSRKVLAVNHVFEIILEYLETRDWQEAFFTILPQRKGAVPTDKACESASHDNQSVRMEEGGSDSDSSEEEYSRNELDSPHEEKQDKENHTESTVNSLPH
uniprot
proteins
disease_involvement
DISEASE: Microcephaly, short stature, and impaired glucose metabolism 1 (MSSGM1) [MIM:616033]: An autosomal recessive disease characterized by microcephaly, intellectual disability, short stature, and disturbed glucose metabolism. Additional clinical features include delayed puberty, hypoglycemia-related seizures, hyperinsulinemic hypoglycemia, and early-onset diabetes. {ECO:0000269|PubMed:24204302, ECO:0000269|PubMed:25053765, ECO:0000269|PubMed:26526202, ECO:0000269|PubMed:26535115}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.221
uniprot
proteins
function
FUNCTION: S-adenosyl-L-methionine-dependent guanine N(1)-methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 (m1G9) in tRNAs (PubMed:23042678, PubMed:25053765). Probably not able to catalyze formation of N(1)-methyladenine at position 9 (m1A9) in tRNAs (PubMed:23042678). {ECO:0000269|PubMed:23042678, ECO:0000269|PubMed:25053765}.
uniprot
proteins
mass_dalton
39719
uniprot
proteins
protein_family
Class IV-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
TRM10 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
23042678
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24204302
uniprot
proteins
pubmed
25053765
uniprot
proteins
pubmed
26526202
uniprot
proteins
pubmed
26535115
uniprot
proteins
sequence_length
339
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24204302}. Nucleus, nucleolus {ECO:0000269|PubMed:24204302}.
uniprot
proteins