InnateDB Protein
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IDBP-19667.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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NSUN5
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Protein Name
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NOP2/Sun domain family, member 5
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000252594
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InnateDB Gene
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IDBG-19665 (NSUN5)
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Protein Structure
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Function |
S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 in 28S rRNA. {ECO:0000250}.
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Subcellular Localization |
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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.
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Tissue Specificity |
Ubiquitous. Detected in placenta, heart and skeletal muscle. {ECO:0000269PubMed:11978965, ECO:0000269PubMed:12073013}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
7
[view]
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Protein-Protein |
7
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001678
Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p
IPR023267
RNA (C5-cytosine) methyltransferase
IPR029063
S-adenosyl-L-methionine-dependent methyltransferase-like
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PFAM |
PF01189
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PRINTS |
PR02008
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96P11
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
55695
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UniGene |
Hs.647060
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RefSeq |
NP_060514
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HUGO |
HGNC:16385
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OMIM |
615732
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CCDS |
CCDS5547
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HPRD |
11678
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IMGT |
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EMBL |
AC073841
AF412028
AF420249
AK001129
AK125667
AK126375
AK298221
BC008084
CH471200
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GenPept |
AAH08084
AAL16067
AAM62310
AAQ96838
AAQ96839
BAA91515
BAG54316
BAG60491
EAW69694
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