• Gene id: 55695

Gene Summary

• Gene Symbol: NSUN5   Gene   UCSC   Ensembl
• Aliases: NOL1, NOL1R, NSUN5A, WBSCR20, WBSCR20A, p120, p120(NOL1)
• Gene name: NOP2/Sun RNA methyltransferase 5
• Alternate names: probable 28S rRNA (cytosine-C(5))-methyltransferase, NOL1-related protein, NOL1/NOP2/Sun domain family member 5, NOP2/Sun RNA methyltransferase family member 5, NOP2/Sun domain family, member 5, NOP2/Sun domain family, member 5A, Williams Beuren syndrome chromo,
• Gene location: 7q11.23 (80073471: 79901145)     Exons: 18     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder
• OMIM: 615732

Protein Summary

• Protein general information: Q96P11  
  • Name: Probable 28S rRNA (cytosine C(5)) methyltransferase (EC 2.1.1. ) (NOL1 related protein) (NOL1R) (NOL1/NOP2/Sun domain family member 5) (Williams Beuren syndrome chromosomal region 20A protein)
  • Length: 429  
  • Mass: 46692
  • Tissue specificity: Ubiquitous. Detected in placenta, heart and skeletal muscle. {ECO
• Sequence:

  MGLYAAAAGVLAGVESRQGSIKGLVYSSNFQNVKQLYALVCETQRYSAVLDAVIASAGLLRAEKKLRPHLAKVLV
  YELLLGKGFRGGGGRWKALLGRHQARLKAELARLKVHRGVSRNEDLLEVGSRPGPASQLPRFVRVNTLKTCSDDV
  VDYFKRQGFSYQGRASSLDDLRALKGKHFLLDPLMPELLVFPAQTDLHEHPLYRAGHLILQDRASCLPAMLLDPP
  PGSHVIDACAAPGNKTSHLAALLKNQGKIFAFDLDAKRLASMATLLARAGVSCCELAEEDFLAVSPSDPRYHEVH
  YILLDPSCSGSGMPSRQLEEPGAGTPSPVRLHALAGFQQRALCHALTFPSLQRLVYSTCSLCQEENEDVVRDALQ
  QNPGAFRLAPALPAWPHRGLSTFPGAEHCLRASPETTLSSGFFVAVIERVEVPR

• Structural information:
  • Interpro: IPR001678  IPR023267  IPR029063  
  • Prosite: PS51686
  • PDB: 2B9E
  • PDBsum: 2B9E
  • STRING: ENSP00000309126
• Other Databases: GeneCards:  NSUN5  Malacards:  NSUN5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001510	RNA methylation	IBA	biological process
GO:0005730	nucleolus	IBA	cellular component
GO:0070475	rRNA base methylation	IBA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0009383	rRNA (cytosine-C5-)-methyltransferase activity	IDA	molecular function
GO:0009383	rRNA (cytosine-C5-)-methyltransferase activity	IDA	molecular function
GO:0070475	rRNA base methylation	IDA	biological process
GO:0070475	rRNA base methylation	IDA	biological process
GO:0045727	positive regulation of translation	IMP	biological process
GO:0014003	oligodendrocyte development	ISS	biological process
GO:0045727	positive regulation of translation	IMP	biological process
GO:0031641	regulation of myelination	ISS	biological process
GO:0021987	cerebral cortex development	ISS	biological process
GO:0050890	cognition	ISS	biological process
GO:0022038	corpus callosum development	ISS	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq