METTL13

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Description

The METTL13 (methyltransferase 13, eEF1A N-terminus and K55) is a protein-coding gene located on chromosome 1.

METTL13 is a dual methyltransferase that modifies elongation factor 1-alpha (EEF1A1 and EEF1A2) at two distinct sites, thereby influencing mRNA translation. Specifically, it methylates EEF1A1 and EEF1A2 at the N-terminal residue 'Gly-2' using its C-terminus, and dimethylates these proteins at residue 'Lys-55' via its N-terminus. Notably, METTL13 exhibits no activity towards core histones H2A, H2B, H3, and H4. Furthermore, METTL13 plays a role in regulating cell proliferation, specifically at the G1/S transition, by suppressing the transcription of cell cycle regulatory genes such as CDK4 and CDK6.

METTL13 is also known as 5630401D24Rik, CGI-01, DFNB26, DFNB26M, DFNM1, EEF1AKNMT, KIAA0859, feat.

Associated Diseases

• glaucoma
• partial chromosome Y deletion
• urinary bladder carcinoma
• nonpapillary renal cell carcinoma
• cancer
• male infertility with teratozoospermia due to single gene mutation
• spermatogenic failures 50
• spermatogenic failure 25
• isolated congenital hypogonadotropic hypogonadism
• spermatogenic failure 63
• congenital bilateral absence of vas deferens
• spermatogenic failure, X-linked, 2
• spermatogenic failure 73
• spermatogenic failure 74