• Gene id: 221078

Gene Summary

• Gene Symbol: NSUN6   Gene   UCSC   Ensembl
• Aliases: 4933414E04Rik, ARL5B-AS1, NOPD1
• Gene name: NOP2/Sun RNA methyltransferase 6
• Alternate names: tRNA (cytosine(72)-C(5))-methyltransferase NSUN6, ARL5B antisense RNA 1, NOL1/NOP2/Sun and PUA domain-containing protein 1, NOL1/NOP2/Sun domain family, member 6, NOP2/Sun RNA methyltransferase family member 6, NOP2/Sun domain family, member 6, nucleolar protei,
• Gene location: 10p12.31 (6393185: 6379568)     Exons: 13     NC_000019.10
• OMIM: 617199

Protein Summary

• Protein general information: Q8TEA1  
  • Name: tRNA (cytosine(72) C(5)) methyltransferase NSUN6 (EC 2.1.1. ) (NOL1/NOP2/Sun and PUA domain containing protein 1) (NOL1/NOP2/Sun domain family member 6)
  • Length: 469  
  • Mass: 51770
• Sequence:

  MSIFPKISLRPEVENYLKEGFMNKEIVTALGKQEAERKFETLLKHLSHPPSFTTVRVNTHLASVQHVKNLLLDEL
  QKQFNGLSVPILQHPDLQDVLLIPVIGPRKNIKKQQCEAIVGAQCGNAVLRGAHVYAPGIVSASQFMKAGDVISV
  YSDIKGKCKKGAKEFDGTKVFLGNGISELSRKEIFSGLPELKGMGIRMTEPVYLSPSFDSVLPRYLFLQNLPSAL
  VSHVLNPQPGEKILDLCAAPGGKTTHIAALMHDQGEVIALDKIFNKVEKIKQNALLLGLNSIRAFCFDGTKAVKL
  DMVEDTEGEPPFLPESFDRILLDAPCSGMGQRPNMACTWSVKEVASYQPLQRKLFTAAVQLLKPEGVLVYSTCTI
  TLAENEEQVAWALTKFPCLQLQPQEPQIGGEGMRGAGLSCEQLKQLQRFDPSAVPLPDTDMDSLREARREDMLRL
  ANKDSIGFFIAKFVKCKST

• Structural information:
  • Protein Domains: (111..20-)
    (/note="PUA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00161"-)
  • Interpro: IPR018314  IPR001678  IPR002478  IPR015947  IPR036974   IPR023267  IPR029063  
  • Prosite: PS01153 PS50890 PS51686
  • PDB: 5WWQ 5WWR 5WWS 5WWT
  • PDBsum: 5WWQ 5WWR 5WWS 5WWT
  • STRING: ENSP00000366519
• Other Databases: GeneCards:  NSUN6  Malacards:  NSUN6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001510	RNA methylation	IBA	biological process
GO:0030488	tRNA methylation	IDA	biological process
GO:0000049	tRNA binding	IDA	molecular function
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity	IDA	molecular function
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity	IDA	molecular function
GO:0002946	tRNA C5-cytosine methylation	IDA	biological process
GO:0003723	RNA binding	IEA	molecular function
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:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity	EXP	molecular function
GO:0006400	tRNA modification	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000049	tRNA binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity	IDA	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)