DPH1

Description

The DPH1 (diphthamide biosynthesis 1) is a protein-coding gene located on chromosome 17.

Diphthamide biosynthesis protein 1 is a protein that in humans is encoded by the DPH1 gene. It encodes a protein that performs posttranslational modification of histidine-715 on eukaryotic translation elongation factor 2 to diphthamide. This modification appears to be important in the translation of Cyclin D in ovarian cells. DPH1 is mutated in 90% of ovarian cancers end stage, usually by loss of heterozygosity.

DPH1 catalyzes the initial step of diphthamide biosynthesis, a post-translational modification of histidine in elongation factor 2 (eEF2). Along with DPH2, DPH1 transfers a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine (SAM) to a histidine residue. This reaction is facilitated by a reduction system involving DPH3 and a NADH-dependent reductase. DPH1 functions as a tumor suppressor.

DPH1 is also known as DEDSSH, DPH2L, DPH2L1, OVCA1.

Associated Diseases

• Developmental delay with short stature, dysmorphic features, and sparse hair
• Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome