Diphthamide biosynthesis protein 1

Definition:

Catalyzes the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2. DPH1 and DPH2 transfer a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine (SAM) to a histidine residue, the reaction is assisted by a reduction system comprising DPH3 and a NADH-dependent reductase (By similarity). Acts as a tumor suppressor.

References:

[1]. Harmen Hawer, et al. Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy. Eur J Hum Genet. 2020 Nov;28(11):1497-1508. [Content Brief]

[2]. W Bruening, et al. Expression of OVCA1, a candidate tumor suppressor, is reduced in tumors and inhibits growth of ovarian cancer cells. Cancer Res. 1999 Oct 1;59(19):4973-83. [Content Brief]

[3]. Roser Urreizti, et al. DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. Eur J Hum Genet. 2020 Jan;28(1):64-75. [Content Brief]

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