FTSJ1
entrez
24140
canonical
uniprot
Q9UET6
canonical
ensembl
ENSG00000068438
resolver
ensp
ENSP00000019019
resolver
ensp
ENSP00000326948
resolver
ensp
ENSP00000380103
resolver
ensp
ENSP00000568867
resolver
ensp
ENSP00000673359
resolver
ensp
ENSP00000699295
resolver
ensp
ENSP00000734173
resolver
enst
ENST00000396894
resolver
genesymbol
FTSJ1
resolver
hgnc
HGNC:13254
resolver
uniprot
A0A024QYX5
resolver
uniprot
A0A0S2Z5C9
resolver
uniprot
B2RCJ0
resolver
uniprot
B3KN91
resolver
uniprot
B7Z4K4
resolver
uniprot
F8W6M8
resolver
uniprot
O75670
resolver
uniprot_entry
A0A024QYX5_HUMAN
resolver
uniprot_entry
A0A0S2Z5C9_HUMAN
resolver
uniprot_entry
B3KN91_HUMAN
resolver
uniprot_entry
B7Z4K4_HUMAN
resolver
uniprot_entry
F8W6M8_HUMAN
resolver
uniprot_entry
TRM7_HUMAN
resolver
uniprot_sec
B2RCJ0
resolver
uniprot_sec
O75670
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by 2,6-diaminopurine (DAP); inhibition promotes UGA stop-codon readthrough during translation by misincorporation of tRNA(Trp) in the nascent polypeptide. {ECO:0000269|PubMed:32198346}.
uniprot
proteins
amino_acid_sequence
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMAPLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRGRDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGDLSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEMEDNEMSCSP
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked 9 (XLID9) [MIM:309549]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed:15162322, ECO:0000269|PubMed:15342698, ECO:0000269|PubMed:18081026, ECO:0000269|PubMed:18401546, ECO:0000269|PubMed:19012053, ECO:0000269|PubMed:26310293, ECO:0000269|PubMed:33771871, ECO:0000269|PubMed:36720500}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.205
uniprot
proteins
function
FUNCTION: Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs (PubMed:25404562, PubMed:26310293, PubMed:32198346, PubMed:32558197, PubMed:33771871, PubMed:36720500). Requisite for faithful cytoplasmic translation (PubMed:32393790). Requires THADA for methylation of the nucleotide at position 32 of the anticodon loop of substrate tRNAs (PubMed:25404562, PubMed:26310293). Requires WDR6 for methylation of the nucleotide at position 34 of the anticodon loop of substrate tRNAs (PubMed:32558197, PubMed:33771871). Promotes translation efficiency of the UUU codon (PubMed:32558197). Plays a role in neurogenesis (PubMed:36720500). Required for expression of genes involved in neurogenesis, mitochondrial translation and energy generation, and lipid biosynthesis (PubMed:33771871, PubMed:36720500). Requisite for RNA-mediated gene silencing (PubMed:36720500). May modify position 32 in tRNA(Arg(ACG)), tRNA(Arg(CCG)), tRNA(Arg(UCG)), tRNA(Cys(GCA)), tRNA(Cys(ACA)), tRNA(Gln(CUG)), tRNA(Gln(UUG)), tRNA(Gly(CCC)), tRNA(Leu(CAG))/tRNA(Leu(CAA)), tRNA(Leu(A/IAG)), tRNA(Leu(UAG)), tRNA(Phe(GAA)), tRNA(Pro(AGG))/tRNA(Pro(CGG))/tRNA(Pro(UGG)) and tRNA(Trp(CCA)), and position 34 in tRNA(Phe(GAA)), tRNA(Leu(CAA)), tRNA(Sec(UCA)), and tRNA(Trp(CCA)) (PubMed:26310293, PubMed:32198346, PubMed:32558197, PubMed:33771871, PubMed:36720500). {ECO:0000269|PubMed:25404562, ECO:0000269|PubMed:26310293, ECO:0000269|PubMed:32198346, ECO:0000269|PubMed:32393790, ECO:0000269|PubMed:32558197, ECO:0000269|PubMed:33771871, ECO:0000269|PubMed:36720500}.
uniprot
proteins
mass_dalton
36079
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
RNA methyltransferase RlmE family
uniprot
proteins
protein_family
TRM7 subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15162322
uniprot
proteins
pubmed
15342698
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
18081026
uniprot
proteins
pubmed
18401546
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19012053
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25404562
uniprot
proteins
pubmed
26310293
uniprot
proteins
pubmed
32198346
uniprot
proteins
pubmed
32393790
uniprot
proteins
pubmed
32488007
uniprot
proteins
pubmed
32558197
uniprot
proteins
pubmed
33771871
uniprot
proteins
pubmed
36720500
uniprot
proteins
sequence_length
329
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:32558197}. Nucleus {ECO:0000269|PubMed:32558197}. Note=Predominantly cytoplasmic. {ECO:0000269|PubMed:32558197}.
uniprot
proteins