Homo sapiens Protein: NSUN5
Summary
InnateDB Protein IDBP-19667.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NSUN5
Protein Name NOP2/Sun domain family, member 5
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000252594
InnateDB Gene IDBG-19665 (NSUN5)
Protein Structure
UniProt Annotation
Function S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 in 28S rRNA. {ECO:0000250}.
Subcellular Localization
Disease Associations Note=NSUN5 is located in the Williams-Beuren syndrome (WBS) critical region. 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.
Tissue Specificity Ubiquitous. Detected in placenta, heart and skeletal muscle. {ECO:0000269PubMed:11978965, ECO:0000269PubMed:12073013}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008168 methyltransferase activity
GO:0044822 poly(A) RNA binding
Biological Process
GO:0032259 methylation
Cellular Component
GO:0005634 nucleus
GO:0005730 nucleolus
Protein Structure and Domains
PDB ID
InterPro IPR001678 Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p
IPR023267 RNA (C5-cytosine) methyltransferase
IPR029063 S-adenosyl-L-methionine-dependent methyltransferase-like
PFAM PF01189
PRINTS PR02008
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96P11
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 55695
UniGene Hs.647060
RefSeq NP_060514
HUGO HGNC:16385
OMIM 615732
CCDS CCDS5547
HPRD 11678
IMGT
EMBL AC073841 AF412028 AF420249 AK001129 AK125667 AK126375 AK298221 BC008084 CH471200
GenPept AAH08084 AAL16067 AAM62310 AAQ96838 AAQ96839 BAA91515 BAG54316 BAG60491 EAW69694