NSUN2
entrez
54888
canonical
uniprot
Q08J23
canonical
ensembl
ENSG00000037474
resolver
ensp
ENSP00000264670
resolver
ensp
ENSP00000420957
resolver
genesymbol
NSUN2
resolver
genesymbol_syn
SAKI
resolver
genesymbol_syn
TRM4
resolver
hgnc
HGNC:25994
resolver
uniprot
A8K529
resolver
uniprot
B2RNR4
resolver
uniprot
B3KP09
resolver
uniprot
B4DQW2
resolver
uniprot
G3V1R4
resolver
uniprot
Q9BVN4
resolver
uniprot
Q9H858
resolver
uniprot
Q9NXD9
resolver
uniprot_entry
NSUN2_HUMAN
resolver
uniprot_sec
A8K529
resolver
uniprot_sec
B2RNR4
resolver
uniprot_sec
B3KP09
resolver
uniprot_sec
B4DQW2
resolver
uniprot_sec
G3V1R4
resolver
uniprot_sec
Q9BVN4
resolver
uniprot_sec
Q9H858
resolver
uniprot_sec
Q9NXD9
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by magnesium ions. {ECO:0000269|PubMed:22995836}.
uniprot
proteins
amino_acid_sequence
MGRRSRGRRLQQQQRPEDAEDGAEGGGKRGEAGWEGGYPEIVKENKLFEHYYQELKIVPEGEWGQFMDALREPLPATLRITGYKSHAKEILHCLKNKYFKELEDLEVDGQKVEVPQPLSWYPEELAWHTNLSRKILRKSPHLEKFHQFLVSETESGNISRQEAVSMIPPLLLNVRPHHKILDMCAAPGSKTTQLIEMLHADMNVPFPEGFVIANDVDNKRCYLLVHQAKRLSSPCIMVVNHDASSIPRLQIDVDGRKEILFYDRILCDVPCSGDGTMRKNIDVWKKWTTLNSLQLHGLQLRIATRGAEQLAEGGRMVYSTCSLNPIEDEAVIASLLEKSEGALELADVSNELPGLKWMPGITQWKVMTKDGQWFTDWDAVPHSRHTQIRPTMFPPKDPEKLQAMHLERCLRILPHHQNTGGFFVAVLVKKSSMPWNKRQPKLQGKSAETRESTQLSPADLTEGKPTDPSKLESPSFTGTGDTEIAHATEDLENNGSKKDGVCGPPPSKKMKLFGFKEDPFVFIPEDDPLFPPIEKFYALDPSFPRMNLLTRTTEGKKRQLYMVSKELRNVLLNNSEKMKVINTGIKVWCRNNSGEEFDCAFRLAQEGIYTLYPFINSRIITVSMEDVKILLTQENPFFRKLSSETYSQAKDLAKGSIVLKYEPDSANPDALQCPIVLCGWRGKASIRTFVPKNERLHYLRMMGLEVLGEKKKEGVILTNESAASTGQPDNDVTEGQRAGEPNSPDAEEANSPDVTAGCDPAGVHPPR
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 5 (MRT5) [MIM:611091]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:22541559, ECO:0000269|PubMed:22541562}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.-
uniprot
proteins
ec_number
2.1.1.203
uniprot
proteins
function
FUNCTION: RNA cytosine C(5)-methyltransferase that methylates cytosine to 5-methylcytosine (m5C) in various RNAs, such as tRNAs, mRNAs and some long non-coding RNAs (lncRNAs) (PubMed:17071714, PubMed:22995836, PubMed:31199786, PubMed:31358969). Involved in various processes, such as epidermal stem cell differentiation, testis differentiation and maternal to zygotic transition during early development: acts by increasing protein synthesis; cytosine C(5)-methylation promoting tRNA stability and preventing mRNA decay (PubMed:31199786). Methylates cytosine to 5-methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors (PubMed:17071714, PubMed:22995836, PubMed:31199786). tRNA methylation is required generation of RNA fragments derived from tRNAs (tRFs) (PubMed:31199786). Also mediates C(5)-methylation of mitochondrial tRNAs (PubMed:31276587). Catalyzes cytosine C(5)-methylation of mRNAs, leading to stabilize them and prevent mRNA decay: mRNA stabilization involves YBX1 that specifically recognizes and binds m5C-modified transcripts (PubMed:22395603, PubMed:31358969, PubMed:34556860). Cytosine C(5)-methylation of mRNAs also regulates mRNA export: methylated transcripts are specifically recognized by THOC4/ALYREF, which mediates mRNA nucleo-cytoplasmic shuttling (PubMed:28418038). Also mediates cytosine C(5)-methylation of non-coding RNAs, such as vault RNAs (vtRNAs), promoting their processing into regulatory small RNAs (PubMed:23871666). Cytosine C(5)-methylation of vtRNA VTRNA1.1 promotes its processing into small-vault RNA4 (svRNA4) and regulates epidermal differentiation (PubMed:31186410). May act downstream of Myc to regulate epidermal cell growth and proliferation (By similarity). Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity (PubMed:19596847). {ECO:0000250|UniProtKB:Q1HFZ0, ECO:0000269|PubMed:17071714, ECO:0000269|PubMed:19596847, ECO:0000269|PubMed:22395603, ECO:0000269|PubMed:22995836, ECO:0000269|PubMed:23871666, ECO:0000269|PubMed:28418038, ECO:0000269|PubMed:31186410, ECO:0000269|PubMed:31199786, ECO:0000269|PubMed:31276587, ECO:0000269|PubMed:31358969, ECO:0000269|PubMed:34556860}.
uniprot
proteins
mass_dalton
86471
uniprot
proteins
mutagenesis
MUTAGEN 139; /note="S->A: Induces a constitutive association with NPM1."; /evidence="ECO:0000269|PubMed:17215513"; MUTAGEN 139; /note="S->E: Mimicks constitutive phosphorylation and abolishes methyltransferase activity."; /evidence="ECO:0000269|PubMed:17215513"; MUTAGEN 190; /note="K->M: Loss of RNA methyltransferase activity."; /evidence="ECO:0000269|PubMed:31186410, ECO:0000269|PubMed:31199786"; MUTAGEN 271; /note="C->A: Abolished mRNA methyltransferase activity; when associated with A-321."; /evidence="ECO:0000269|PubMed:28418038, ECO:0000269|PubMed:31358969"; MUTAGEN 321; /note="C->A: Abolished mRNA methyltransferase activity; when associated with A-271."; /evidence="ECO:0000269|PubMed:28418038, ECO:0000269|PubMed:31358969
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Ser-139 by AURKB during mitosis, leading to abolish methyltransferase activity and the interaction with NPM1. {ECO:0000269|PubMed:17215513}.
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
RsmB/NOP family
uniprot
proteins
protein_family
TRM4 subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17071714
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17215513
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19596847
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21908771
uniprot
proteins
pubmed
22395603
uniprot
proteins
pubmed
22541559
uniprot
proteins
pubmed
22541562
uniprot
proteins
pubmed
22995836
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23871666
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28418038
uniprot
proteins
pubmed
31186410
uniprot
proteins
pubmed
31199786
uniprot
proteins
pubmed
31276587
uniprot
proteins
pubmed
31287866
uniprot
proteins
pubmed
31358969
uniprot
proteins
pubmed
34556860
uniprot
proteins
sequence_length
767
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:17071714, ECO:0000269|PubMed:17215513, ECO:0000269|PubMed:31276587}. Cytoplasm {ECO:0000269|PubMed:17071714, ECO:0000269|PubMed:31276587}. Mitochondrion {ECO:0000269|PubMed:31276587, ECO:0000269|PubMed:31287866}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19596847}. Secreted, extracellular exosome {ECO:0000250|UniProtKB:Q1HFZ0}. Note=Concentrated in the nucleolus during interphase and translocates to the spindle during mitosis as an RNA-protein complex that includes 18S ribosomal RNA (PubMed:19596847). In testis, localizes to the chromatoid body (By similarity). {ECO:0000250|UniProtKB:Q1HFZ0, ECO:0000269|PubMed:19596847}.
uniprot
proteins