• Gene id: 63899

Gene Summary

• Gene Symbol: NSUN3   Gene   UCSC   Ensembl
• Aliases: MST077, MSTP077
• Gene name: NOP2/Sun RNA methyltransferase 3
• Alternate names: tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial, NOL1/NOP2/Sun domain family member 3, NOP2/Sun RNA methyltransferase family member 3, putative methyltransferase NSUN3,
• Gene location: 3q11.2 (94063060: 94131831)     Exons: 7     NC_000003.12
• OMIM: 617491

Protein Summary

• Protein general information: Q9H649  
  • Name: tRNA (cytosine(34) C(5)) methyltransferase, mitochondrial (EC 2.1.1. ) (NOL1/NOP2/Sun domain family member 3)
  • Length: 340  
  • Mass: 38244
• Sequence:

  MLTQLKAKSEGKLAKQICKVVLDHFEKQYSKELGDAWNTVREILTSPSCWQYAVLLNRFNYPFELEKDLHLKGYH
  TLSQGSLPNYPKSVKCYLSRTPGRIPSERHQIGNLKKYYLLNAASLLPVLALELRDGEKVLDLCAAPGGKSIALL
  QCACPGYLHCNEYDSLRLRWLRQTLESFIPQPLINVIKVSELDGRKMGDAQPEMFDKVLVDAPCSNDRSWLFSSD
  SQKASCRISQRRNLPLLQIELLRSAIKALRPGGILVYSTCTLSKAENQDVISEILNSHGNIMPMDIKGIARTCSH
  DFTFAPTGQECGLLVIPDKGKAWGPMYVAKLKKSWSTGKW

• Structural information:
  • Interpro: IPR001678  IPR023267  IPR029063  
  • Prosite: PS51686
  • STRING: ENSP00000318986
• Other Databases: GeneCards:  NSUN3  Malacards:  NSUN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001510	RNA methylation	IBA	biological process
GO:0031167	rRNA methylation	IBA	biological process
GO:0008168	methyltransferase activity	IBA	molecular function
GO:0005762	mitochondrial large ribosomal subunit	IBA	cellular component
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity	IDA	molecular function
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity	IDA	molecular function
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity	IDA	molecular function
GO:0002127	tRNA wobble base cytosine methylation	IDA	biological process
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0002127	tRNA wobble base cytosine methylation	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0002127	tRNA wobble base cytosine methylation	IDA	biological process
GO:0070129	regulation of mitochondrial translation	IMP	biological process
GO:0070129	regulation of mitochondrial translation	IMP	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component

Diseases

Associated diseases	References
Azoospermia	MIK: 19478329
Oligozoospermia	MIK: 19478329
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
19478329	Azoospermia, Oligozoospermia	rs9825719	Caucasi an	45 cases	Male infertility	GWAS