NSUN6
entrez
221078
canonical
uniprot
Q8TEA1
canonical
ensembl
ENSG00000241058
resolver
ensp
ENSP00000366519
resolver
ensp
ENSP00000655619
resolver
ensp
ENSP00000655621
resolver
ensp
ENSP00000655622
resolver
ensp
ENSP00000701865
resolver
ensp
ENSP00000798399
resolver
enst
ENST00000377304
resolver
genesymbol
NSUN6
resolver
genesymbol_syn
NOPD1
resolver
hgnc
HGNC:23529
resolver
uniprot
B0YJ54
resolver
uniprot_entry
NSUN6_HUMAN
resolver
uniprot_sec
B0YJ54
resolver
amino_acid_sequence
MSIFPKISLRPEVENYLKEGFMNKEIVTALGKQEAERKFETLLKHLSHPPSFTTVRVNTHLASVQHVKNLLLDELQKQFNGLSVPILQHPDLQDVLLIPVIGPRKNIKKQQCEAIVGAQCGNAVLRGAHVYAPGIVSASQFMKAGDVISVYSDIKGKCKKGAKEFDGTKVFLGNGISELSRKEIFSGLPELKGMGIRMTEPVYLSPSFDSVLPRYLFLQNLPSALVSHVLNPQPGEKILDLCAAPGGKTTHIAALMHDQGEVIALDKIFNKVEKIKQNALLLGLNSIRAFCFDGTKAVKLDMVEDTEGEPPFLPESFDRILLDAPCSGMGQRPNMACTWSVKEVASYQPLQRKLFTAAVQLLKPEGVLVYSTCTITLAENEEQVAWALTKFPCLQLQPQEPQIGGEGMRGAGLSCEQLKQLQRFDPSAVPLPDTDMDSLREARREDMLRLANKDSIGFFIAKFVKCKST
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 82 (MRT82) [MIM:620779]: An autosomal recessive disorder characterized by developmental delay, motor and speech delay, intellectual disability, and behavioral anomalies. {ECO:0000269|PubMed:37226891}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.-
uniprot
proteins
function
FUNCTION: S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C5 position of cytosine 72 in tRNA(Thr)(TGT) and tRNA(Cys)(GCA) (PubMed:26160102, PubMed:27703015, PubMed:28531330). In vitro also methylates tRNA(Thr)(AGT) (PubMed:26160102, PubMed:27703015). Methylation requires, in the acceptor stem region, the presence of the 3'-CCA terminus, the target site C72, the discriminator base U73, and the second and third base pairs (2:71 and 3:70) in the tRNA substrates (PubMed:26160102, PubMed:27703015). {ECO:0000269|PubMed:26160102, ECO:0000269|PubMed:27703015, ECO:0000269|PubMed:28531330}.
uniprot
proteins
mass_dalton
51770
uniprot
proteins
mutagenesis
MUTAGEN 126; /note="R->A: Decreases substantially tRNA methyltransferase activity."; /evidence="ECO:0000269|PubMed:28531330"; MUTAGEN 131; /note="Y->A: Abolishes methylation of tRNA (Cys)."; /evidence="ECO:0000269|PubMed:28531330"; MUTAGEN 159; /note="K->A: Decreases tRNA methyltransferase activity. Abolishes tRNA methyltransferase activity; when associated with A-181."; /evidence="ECO:0000269|PubMed:28531330"; MUTAGEN 160; /note="K->A: Decreases tRNA methyltransferase activity. Abolishes tRNA methyltransferase activity; when associated with A-181."; /evidence="ECO:0000269|PubMed:28531330"; MUTAGEN 181; /note="R->A: Substantially decreases tRNA methyltransferase activity."; /evidence="ECO:0000269|PubMed:28531330"; MUTAGEN 218; /note="L->A: Decreases substantially tRNA methyltransferase activity."; /evidence="ECO:0000269|PubMed:28531330"; MUTAGEN 220; /note="N->A: Decreases substantially tRNA methyltransferase activity."; /evidence="ECO:0000269|PubMed:28531330"; MUTAGEN 223; /note="S->A: Does not affect tRNA methyltransferase activity."; /evidence="ECO:0000269|PubMed:28531330"; MUTAGEN 248; /note="K->A: Abolishes tRNA methyltransferase activity. Does not affect S-Adenosylmethionine binding."; /evidence="ECO:0000269|PubMed:28531330"; MUTAGEN 266; /note="D->A: Loss of S-Adenosylmethionine binding. Loss of tRNA methyltransferase activity."; /evidence="ECO:0000269|PubMed:28531330"; MUTAGEN 271; /note="K->A: Loss of S-Adenosylmethionine binding. Loss of tRNA methyltransferase activity."; /evidence="ECO:0000269|PubMed:28531330"; MUTAGEN 293; /note="D->A: Loss of S-Adenosylmethionine binding. Loss of tRNA methyltransferase activity."; /evidence="ECO:0000269|PubMed:28531330"; MUTAGEN 323; /note="D->A: Abolishes tRNA methyltransferase activity. Abolishes S-Adenosylmethionine binding."; /evidence="ECO:0000269|PubMed:28531330"; MUTAGEN 373; /note="C->A: Does not impair target RNA binding. Abolishes tRNA (cytosine-5-)-methyltransferase activity."; /evidence="ECO:0000269|PubMed:26160102, ECO:0000269|PubMed:28531330"; MUTAGEN 458; /note="F->A: Abolishes tRNA methyltransferase activity."; /evidence="ECO:0000269|PubMed:28531330
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
RsmB/NOP family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
26160102
uniprot
proteins
pubmed
27703015
uniprot
proteins
pubmed
28531330
uniprot
proteins
pubmed
37226891
uniprot
proteins
sequence_length
469
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:26160102}.
uniprot
proteins