DPH1

Diphthamide biosynthesis protein 1 is a protein that in humans is encoded by the DPH1 gene.^[5][6][7] It encodes a protein that performs posttranslational modification of histidine-715^[8] 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
Identifiers
Aliases	DPH1, DPH2L, DPH2L1, OVCA1, DEDSSH, diphthamide biosynthesis 1
External IDs	OMIM: 603527; MGI: 2151233; HomoloGene: 1059; GeneCards: DPH1; OMA:DPH1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p13.3 Start 2,030,137 bp[1] End 2,043,898 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 B5|11 45.76 cM Start 75,068,469 bp[2] End 75,082,067 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pituitary gland right hemisphere of cerebellum anterior pituitary right uterine tube body of pancreas right frontal lobe left ovary prostate right ovary left uterine tube Top expressed in proximal tubule adrenal gland epiblast liver spermatocyte striatum of neuraxis right kidney dentate gyrus of hippocampal formation granule cell urinary bladder embryo More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding transferase activity Cellular component cytoplasm cytosol nucleus nucleoplasm cell junction Biological process cell population proliferation peptidyl-diphthamide biosynthetic process from peptidyl-histidine Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1801 116905 Ensembl ENSG00000108963 ENSMUSG00000078789 UniProt Q9BZG8 Q5NCQ5 RefSeq (mRNA) NM_001346574 NM_001346575 NM_001346576 NM_001383 NM_144491 RefSeq (protein) NP_001333503 NP_001333504 NP_001333505 NP_001374 NP_652762 Location (UCSC) Chr 17: 2.03 – 2.04 Mb Chr 11: 75.07 – 75.08 Mb PubMed search [3] [4]
Wikidata
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