NSUN5
entrez
55695
canonical
uniprot
Q96P11
canonical
ensembl
ENSG00000130305
resolver
ensp
ENSP00000252594
resolver
ensp
ENSP00000309126
resolver
ensp
ENSP00000388464
resolver
ensp
ENSP00000393081
resolver
ensp
ENSP00000657216
resolver
genesymbol
NSUN5
resolver
genesymbol_syn
NSUN5A
resolver
genesymbol_syn
WBSCR20
resolver
genesymbol_syn
WBSCR20A
resolver
hgnc
HGNC:16385
resolver
uniprot
B3KX04
resolver
uniprot
B4DP79
resolver
uniprot
G3V0G9
resolver
uniprot
Q6ZUI8
resolver
uniprot
Q96HT9
resolver
uniprot
Q9NW70
resolver
uniprot_entry
NSUN5_HUMAN
resolver
uniprot_sec
B3KX04
resolver
uniprot_sec
B4DP79
resolver
uniprot_sec
G3V0G9
resolver
uniprot_sec
Q6ZUI8
resolver
uniprot_sec
Q96HT9
resolver
uniprot_sec
Q9NW70
resolver
amino_acid_sequence
MGLYAAAAGVLAGVESRQGSIKGLVYSSNFQNVKQLYALVCETQRYSAVLDAVIASAGLLRAEKKLRPHLAKVLVYELLLGKGFRGGGGRWKALLGRHQARLKAELARLKVHRGVSRNEDLLEVGSRPGPASQLPRFVRVNTLKTCSDDVVDYFKRQGFSYQGRASSLDDLRALKGKHFLLDPLMPELLVFPAQTDLHEHPLYRAGHLILQDRASCLPAMLLDPPPGSHVIDACAAPGNKTSHLAALLKNQGKIFAFDLDAKRLASMATLLARAGVSCCELAEEDFLAVSPSDPRYHEVHYILLDPSCSGSGMPSRQLEEPGAGTPSPVRLHALAGFQQRALCHALTFPSLQRLVYSTCSLCQEENEDVVRDALQQNPGAFRLAPALPAWPHRGLSTFPGAEHCLRASPETTLSSGFFVAVIERVEVPR
uniprot
proteins
disease_involvement
DISEASE: Note=NSUN5 is located in the Williams-Beuren syndrome (WBS) critical region (PubMed:11978965, PubMed:12073013). WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region (PubMed:11978965, PubMed:12073013). Its deletion in WBS results in decreased methylation of the C(5) position of cytosine 3782 (m5C3782) in 28S rRNA (PubMed:31722427). {ECO:0000269|PubMed:11978965, ECO:0000269|PubMed:12073013, ECO:0000269|PubMed:31722427}.
uniprot
proteins
ec_number
2.1.1.-
uniprot
proteins
function
FUNCTION: S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 (m5C3782) in 28S rRNA (PubMed:23913415, PubMed:31428936, PubMed:31722427). m5C3782 promotes protein translation without affecting ribosome biogenesis and fidelity (PubMed:31428936, PubMed:31722427). Required for corpus callosum and cerebral cortex development (By similarity). {ECO:0000250|UniProtKB:Q8K4F6, ECO:0000269|PubMed:23913415, ECO:0000269|PubMed:31428936, ECO:0000269|PubMed:31722427}.
uniprot
proteins
mass_dalton
46692
uniprot
proteins
mutagenesis
MUTAGEN 308; /note="C->S: Abolished methyltransferase activity without affecting nucleolar localization; when associated with S-359."; /evidence="ECO:0000269|PubMed:31722427"; MUTAGEN 359; /note="C->S: Abolished methyltransferase activity without affecting nucleolar localization; when associated with S-308."; /evidence="ECO:0000269|PubMed:31722427
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
RsmB/NOP family
uniprot
proteins
pubmed
11978965
uniprot
proteins
pubmed
12073013
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23913415
uniprot
proteins
pubmed
31428936
uniprot
proteins
pubmed
31722427
uniprot
proteins
sequence_length
429
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:31722427}.
uniprot
proteins