• Gene id: 51603

Gene Summary

• Gene Symbol: EEF1AKNMT   Gene   UCSC   Ensembl
• Aliases: 5630401D24Rik, CGI-01, DFNB26, DFNB26M, DFNM1, KIAA0859, METTL13, feat
• Gene name: eEF1A lysine and N-terminal methyltransferase
• Alternate names: eEF1A lysine and N-terminal methyltransferase, antiapoptotic protein FEAT, deafness (autosomal recessive, nonsyndromic) modifier 1, deafness (recessive, non-syndromic) modifier 1, deafness (recessive, nonsyndromic) modifier 1, eEF1A-KNMT, methyltransferase like,
• Gene location: 1q24.3 (171781659: 171797715)     Exons: 8     NC_000001.11
• OMIM: 605213

Protein Summary

• Protein general information: Q8N6R0  
  • Name: eEF1A lysine and N terminal methyltransferase (eEF1A KNMT) (Methyltransferase like protein 13) [Includes: eEF1A lysine methyltransferase (EC 2.1.1. ); eEF1A N terminal methyltransferase (EC 2.1.1. )]
  • Length: 699  
  • Mass: 78768
• Sequence:

  MNLLPKSSREFGSVDYWEKFFQQRGKKAFEWYGTYLELCGVLHKYIKPREKVLVIGCGNSELSEQLYDVGYRDIV
  NIDISEVVIKQMKECNATRRPQMSFLKMDMTQMEFPDASFQVVLDKGTLDAVLTDEEEKTLQQVDRMLAEVGRVL
  QVGGRYLCISLAQAHILKKAVGHFSREGWMVRVHQVANSQDQVLEAEPQFSLPVFAFIMTKFRPVPGSALQIFEL
  CAQEQRKPVRLESAERLAEAVQERQQYAWLCSQLRRKARLGSVSLDLCDGDTGEPRYTLHVVDSPTVKPSRDNHF
  AIFIIPQGRETEWLFGMDEGRKQLAASAGFRRLITVALHRGQQYESMDHIQAELSARVMELAPAGMPTQQQVPFL
  SVGGDIGVRTVQHQDCSPLSGDYVIEDVQGDDKRYFRRLIFLSNRNVVQSEARLLKDVSHKAQKKRKKDRKKQRP
  ADAEDLPAAPGQSIDKSYLCCEHHKAMIAGLALLRNPELLLEIPLALLVVGLGGGSLPLFVHDHFPKSCIDAVEI
  DPSMLEVATQWFGFSQSDRMKVHIADGLDYIASLAGGGEARPCYDVIMFDVDSKDPTLGMSCPPPAFVEQSFLQK
  VKSILTPEGVFILNLVCRDLGLKDSVLAGLKAVFPLLYVRRIEGEVNEILFCQLHPEQKLATPELLETAQALERT
  LRKPGRGWDDTYVLSDMLKTVKIV

• Structural information:
  • Interpro: IPR013216  IPR029063  
  • PDB: 5WCJ
  • PDBsum: 5WCJ
  • STRING: ENSP00000354920
• Other Databases: GeneCards:  EEF1AKNMT  Malacards:  EEF1AKNMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq