full name
diphthamide biosynthesis 1

synonyms
DPH2L, DPH2L1, OVCA1, DPH1, ENSG00000108963

HGNC
HGNC:3003

Entrez Gene
Gene:1801

ENSEMBL
ENSG00000108963

location
chr: 17
start: 1933431
stop: 1947183
strand: +

OMIM
OMIM:603527: DPH1
OMIM:616901: Developmental delay with short stature, dysmorphic facial features, and sparse hair

transcripts
NM_001383.3

pathways
Gamma carboxylation, hypusine formation and arylsulfatase activation [NCBI:1268702] [REACTOME:R-HSA-163841]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]
Synthesis of diphthamide-EEF2 [NCBI:1268708] [REACTOME:R-HSA-5358493] [PUBMED:721806] [PUBMED:23971743] [PUBMED:25352115] [PUBMED:20040] [PUBMED:164179] [PUBMED:23468660] [PUBMED:15485916] [PUBMED:24739148]