Version 5.4
Homo sapiens Gene: NSUN5
Summary
InnateDB Gene IDBG-19665.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NSUN5
Gene Name NOP2/Sun domain family, member 5
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000130305
Encoded Proteins
IDBP-19667
NOP2/Sun domain family, member 5
IDBP-19669
NOP2/Sun domain family, member 5
IDBP-377465
NOP2/Sun domain family, member 5
IDBP-377474
NOP2/Sun domain family, member 5
IDBP-377475
NOP2/Sun domain family, member 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the evolutionarily conserved NOL1/NOP2/Sun domain family. The encoded protein may function as a DNA methyltransferase in the nucleus. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:73302517-73308867
Strand Reverse strand
Band q11.23
Transcripts
ENST00000252594 ENSP00000252594
ENST00000310326 ENSP00000309126
ENST00000428206 ENSP00000393081
ENST00000438747 ENSP00000388464
ENST00000455763 ENSP00000405757
ENST00000471461
ENST00000478977
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000000916
View Gene Order
ENSBTAG00000017941
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.647060
RefSeq NM_001168347 NM_001168348 NM_018044 NM_148956 XM_005277604
HUGO
OMIM
CCDS CCDS55118 CCDS55119 CCDS5546 CCDS5547
HPRD 11678
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca