• Gene id: 152992

Gene Summary

• Gene Symbol: TRMT44   Gene   UCSC   Ensembl
• Aliases: C4orf23, METTL19, TRM44
• Gene name: tRNA methyltransferase 44 homolog
• Alternate names: probable tRNA (uracil-O(2)-)-methyltransferase, methyltransferase like 19, methyltransferase-like protein 19,
• Gene location: 4p16.1 (8440773: 8512530)     Exons: 12     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]
• OMIM: 614309

Protein Summary

• Protein general information: Q8IYL2  
  • Name: Probable tRNA (uracil O(2) ) methyltransferase (EC 2.1.1.211) (Methyltransferase like protein 19)
  • Length: 757  
  • Mass: 84629
• Sequence:

  MAEVGRTGISYPGALLPQGFWAAVEVWLERPQVANKRLCGARLEARWSAALPCAEARGPGTSAGSEQKERGPGPG
  QGSPGGGPGPRSLSGPEQGTACCELEEAQGQCQQEEAQREAASVPLRDSGHPGHAEGREGDFPAADLDSLWEDFS
  QSLARGNSELLAFLTSSGAGSQPEAQRELDVVLRTVIPKTSPHCPLTTPRREIVVQDVLNGTITFLPLEEDDEGN
  LKVKMSNVYQIQLSHSKEEWFISVLIFCPERWHSDGIVYPKPTWLGEELLAKLAKWSVENKKSDFKSTLSLISIM
  KYSKAYQELKEKYKEMVKVWPEVTDPEKFVYEDVAIAAYLLILWEEERAERRLTARQSFVDLGCGNGLLVHILSS
  EGHPGRGIDVRRRKIWDMYGPQTQLEEDAITPNDKTLFPDVDWLIGNHSDELTPWIPVIAARSSYNCRFFVLPCC
  FFDFIGRYSRRQSKKTQYREYLDFIKEVGFTCGFHVDEDCLRIPSTKRVCLVGKSRTYPSSREASVDEKRTQYIK
  SRRGCPVSPPGWELSPSPRWVAAGSAGHCDGQQALDARVGCVTRAWAAEHGAGPQAEGPWLPGFHPREKAERVRN
  CAALPRDFIDQVVLQVANLLLGGKQLNTRSSRNGSLKTWNGGESLSLAEVANELDTETLRRLKRECGGLQTLLRN
  SHQVFQVVNGRVHIRDWREETLWKTKQPEAKQRLLSEACKTRLCWFFMHHPDGCALSTDCCPFAHGPAELRPPRT
  TPRKKIS

• Structural information:
  • Interpro: IPR029063  IPR011671  IPR000571  
  • Prosite: PS50103
  • STRING: ENSP00000374387
• Other Databases: GeneCards:  TRMT44  Malacards:  TRMT44

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016300	tRNA (uracil) methyltransferase activity	IBA	molecular function
GO:0030488	tRNA methylation	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq