• Gene id: 27292

Gene Summary

• Gene Symbol: DIMT1   Gene   UCSC   Ensembl
• Aliases: DIM1, DIMT1L, HSA9761, HUSSY5
• Gene name: DIMT1 rRNA methyltransferase and ribosome maturation factor
• Alternate names: probable dimethyladenosine transferase, 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase, 18S rRNA dimethylase, DIM1 dimethyladenosine transferase 1 homolog, DIM1 dimethyladenosine transferase 1-like, S-adenosylmethionine-6-N',N'-adenosyl(r,
• Gene location: 5q12.1 (62403904: 62387253)     Exons: 13     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a methyltransferase that is responsible for dimethylation of adjacent adenosines near the 18S rRNA decoding site. The encoded protein is essential for ribosome biogenesis, although its catalytic activity is not involved
• OMIM: 612499

Protein Summary

• Protein general information: Q9UNQ2  
  • Name: Probable dimethyladenosine transferase (EC 2.1.1.183) (DIM1 dimethyladenosine transferase 1 homolog) (DIM1 dimethyladenosine transferase 1 like) (Probable 18S rRNA (adenine(1779) N(6)/adenine(1780) N(6)) dimethyltransferase) (Probable 18S rRNA dimethylase
  • Length: 313  
  • Mass: 35236
• Sequence:

  MPKVKSGAIGRRRGRQEQRRELKSAGGLMFNTGIGQHILKNPLIINSIIDKAALRPTDVVLEVGPGTGNMTVKLL
  EKAKKVVACELDPRLVAELHKRVQGTPVASKLQVLVGDVLKTDLPFFDTCVANLPYQISSPFVFKLLLHRPFFRC
  AILMFQREFALRLVAKPGDKLYCRLSINTQLLARVDHLMKVGKNNFRPPPKVESSVVRIEPKNPPPPINFQEWDG
  LVRITFVRKNKTLSAAFKSSAVQQLLEKNYRIHCSVHNIIIPEDFSIADKIQQILTSTGFSDKRARSMDIDDFIR
  LLHGFNAEGIHFS

• Structural information:
  • Interpro: IPR001737  IPR020596  IPR020598  IPR011530  IPR029063  
  • Prosite: PS01131 PS51689
  • PDB: 1ZQ9
  • PDBsum: 1ZQ9
  • STRING: ENSP00000199320
• Other Databases: GeneCards:  DIMT1  Malacards:  DIMT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031167	rRNA methylation	IBA	biological process
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0000179	rRNA (adenine-N6,N6-)-dimethyltransferase activity	IBA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:2000234	positive regulation of rRNA processing	IMP	biological process
GO:0031167	rRNA methylation	IMP	biological process
GO:0000179	rRNA (adenine-N6,N6-)-dimethyltransferase activity	IMP	molecular function
GO:0000154	rRNA modification	IEA	biological process
GO:0000179	rRNA (adenine-N6,N6-)-dimethyltransferase activity	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0008649	rRNA methyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0052909	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity	IEA	molecular function
GO:0000179	rRNA (adenine-N6,N6-)-dimethyltransferase activity	EXP	molecular function
GO:0031167	rRNA methylation	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881