DPH1

Chr 17p13.3

diphthamide biosynthesis 1

Aliases:: OVCA1
MANE:: ENST00000263083.12

OMIM: 603527 ↗NCBI: 1801 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

DPH1 · Q9BZG8

v62025-08-01

Predicted Aligned Error matrix for DPH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.1/ 100

Confident

438 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)2%
Low(50–70)2%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

developmental delay with short stature, dysmorphic facial features, and sparse hair 1
0.78
developmental delay with short stature, dysmorphic facial features, and sparse hair
0.64
neurodegenerative disease
0.49
hereditary disease
0.34
Global developmental delay
0.26
Hydrocephalus
0.26
Dandy-Walker syndrome
0.26
Cerebellar vermis hypoplasia
0.26
intracerebral hemorrhage
0.22
arthritic joint disease
0.16

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

2-(3-amino-3-carboxypropyl)histidine synthase subunit 1

Catalyzes the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2 (PubMed:30877278). 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 (PubMed:10519411)