| 1352320 | DPH1 | diphthamide biosynthesis 1 | The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been asso ciated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016] | 17 | 2030112 | 2043898 | Human | 153 | symbol , old_gene_name , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1557600 | Dph1 | diphthamide biosynthesis 1 | Enables 2-(3-amino-3-carboxypropyl)histidine synthase activity. Involved in protein histidyl modification to diphthamide. Acts upstream of or within fibroblast proliferation. Part of 2-(3-amino-3-carboxypropyl)histidine synthase complex. Is expressed in several structures, including gonad; gut; hemo lymphoid system gland; liver; and lung. Used to study Miller-Dieker lissencephaly syndrome and diphthamide deficiency syndrome 1. Human ortholog(s) of this gene implicated in diphthamide deficiency syndrome 1. Orthologous to human DPH1 (diphthamide biosynthesis 1). [provided by Alliance of Genome Resources, Jul 2025] | 11 | 75068469 | 75081309 | Mouse | 143 | symbol , old_gene_name , PhenoGen , description , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1562694 | Dph1 | diphthamide biosynthesis 1 | ENCODES a protein that exhibits 2-(3-amino-3-carboxypropyl)histidine synthase activity (ortholog); INVOLVED IN cell population proliferation (ortholog); protein histidyl modification to diphthamide (ortholog); ASSOCIATED WITH congenital disorder of glycosylation Ia (ortholog); Dandy-Walker syndrome (ortholog); diphthamide deficiency syndrome (ortholog); FOUND IN 2-(3-amino-3-carboxypropyl)histidine synthase complex (ortholog); cytosol (ortholog); nucleoplasm (ortholog); INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil | 10 | 60526417 | 60538102 | Rat | 79 | symbol , old_gene_name , PhenoGen | gene, protein-coding, PROVISIONAL [RefSeq] |
| 9020744 | Dph1 | diphthamide biosynthesis 1 | ENCODES a protein that exhibits 2-(3-amino-3-carboxypropyl)histidine synthase activity (ortholog); INVOLVED IN cell population proliferation (ortholog); protein histidyl modification to diphthamide (ortholog); ASSOCIATED WITH congenital disorder of glycosylation Ia (ortholog); Dandy-Walker syndrome (ortholog); diphthamide deficiency syndrome (ortholog); FOUND IN 2-(3-amino-3-carboxypropyl)histidine synthase complex (ortholog); cytosol (ortholog); nucleoplasm (ortholog) | NW_004955481 | 1194428 | 1205231 | Chinchilla | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11798057 | DPH1 | diphthamide biosynthesis 1 | ENCODES a protein that exhibits 2-(3-amino-3-carboxypropyl)histidine synthase activity (inferred); 4 iron, 4 sulfur cluster binding (inferred); iron-sulfur cluster binding (inferred); INVOLVED IN cell population proliferation (ortholog); ASSOCIATED WITH congenital disorder of glycosylation Ia (ortho log); Dandy-Walker syndrome (ortholog); diphthamide deficiency syndrome (ortholog); FOUND IN 2-(3-amino-3-carboxypropyl)histidine synthase complex (inferred); cytosol (inferred); nucleoplasm (inferred) | 17 | 2020163 | 2035044 | Bonobo | 30 | symbol , old_gene_name | gene, protein-coding, MODEL [RefSeq] |
| 12185256 | DPH1 | diphthamide biosynthesis 1 | ENCODES a protein that exhibits 2-(3-amino-3-carboxypropyl)histidine synthase activity (ortholog); INVOLVED IN cell population proliferation (ortholog); ASSOCIATED WITH congenital disorder of glycosylation Ia (ortholog); Dandy-Walker syndrome (ortholog); diphthamide deficiency syndrome (ortholog); F OUND IN 2-(3-amino-3-carboxypropyl)histidine synthase complex (ortholog); cytosol (ortholog); nucleoplasm (ortholog) | 9 | 46137573 | 46147829 | Dog | 27 | symbol , old_gene_name | gene, protein-coding, MODEL [RefSeq] |
| 12458709 | Dph1 | diphthamide biosynthesis 1 | ENCODES a protein that exhibits 2-(3-amino-3-carboxypropyl)histidine synthase activity (inferred); 4 iron, 4 sulfur cluster binding (inferred); iron-sulfur cluster binding (inferred); INVOLVED IN cell population proliferation (ortholog); ASSOCIATED WITH congenital disorder of glycosylation Ia (ortho log); Dandy-Walker syndrome (ortholog); diphthamide deficiency syndrome (ortholog); FOUND IN 2-(3-amino-3-carboxypropyl)histidine synthase complex (inferred); cytosol (inferred); nucleoplasm (inferred) | NW_004936538 | 8100977 | 8110704 | Squirrel | 31 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 284537478 | dph1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 626133486 | Dph1 | diphthamide biosynthesis 1 | ENCODES a protein that exhibits 2-(3-amino-3-carboxypropyl)histidine synthase activity (ortholog); INVOLVED IN cell population proliferation (ortholog); protein histidyl modification to diphthamide (ortholog); ASSOCIATED WITH congenital disorder of glycosylation Ia (ortholog); Dandy-Walker syndrome (ortholog); diphthamide deficiency syndrome (ortholog); FOUND IN 2-(3-amino-3-carboxypropyl)histidine synthase complex (ortholog); cytosol (ortholog); nucleoplasm (ortholog) | | | | Black Rat | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18916305 | Dph1 | diphthamide biosynthesis 1 | ENCODES a protein that exhibits 2-(3-amino-3-carboxypropyl)histidine synthase activity (ortholog); INVOLVED IN cell population proliferation (ortholog); ASSOCIATED WITH congenital disorder of glycosylation Ia (ortholog); Dandy-Walker syndrome (ortholog); diphthamide deficiency syndrome (ortholog); F OUND IN 2-(3-amino-3-carboxypropyl)histidine synthase complex (ortholog); cytosol (ortholog); nucleoplasm (ortholog) | | | | Naked Mole-Rat | 30 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18446928 | DPH1 | diphthamide biosynthesis 1 | ENCODES a protein that exhibits 2-(3-amino-3-carboxypropyl)histidine synthase activity (inferred); iron-sulfur cluster binding (inferred); metal ion binding (inferred); INVOLVED IN cell population proliferation (ortholog); ASSOCIATED WITH congenital disorder of glycosylation Ia (ortholog); Dandy-Wal ker syndrome (ortholog); diphthamide deficiency syndrome (ortholog); FOUND IN 2-(3-amino-3-carboxypropyl)histidine synthase complex (inferred); cytosol (inferred); nucleoplasm (inferred) | | | | Green Monkey | 26 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14107515 | DPH1 | diphthamide biosynthesis 1 | ENCODES a protein that exhibits 2-(3-amino-3-carboxypropyl)histidine synthase activity (inferred); 4 iron, 4 sulfur cluster binding (inferred); iron-sulfur cluster binding (inferred); INVOLVED IN cell population proliferation (ortholog); ASSOCIATED WITH congenital disorder of glycosylation Ia (ortho log); Dandy-Walker syndrome (ortholog); diphthamide deficiency syndrome (ortholog); FOUND IN 2-(3-amino-3-carboxypropyl)histidine synthase complex (inferred); cytosol (inferred); nucleoplasm (inferred) | | | | Pig | 30 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14376150 | Dph1 | | | | | | Fly | | symbol | gene, null |
| 14376149 | DPH1 | | | | | | Yeast | | symbol | gene, null |
| 286535074 | dph1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 150573741 | DPH1-AS1 | DPH1 antisense RNA 1 | | | | | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, ncrna |
| 16563669 | DPH1-AS1 | DPH1 antisense RNA 1 | | | | | Human | | symbol , COSMIC , name , Human Proteome Map | gene, lncrna |
| 16572636 | AC090617.10 | novel transcript, antisense to DPH1 | | | | | Human | | name | gene, lncrna |
| 16563587 | AC090617.3 | novel transcript, antisense to DPH1 and OVCA2 | | | | | Human | | name | gene, lncrna |
