DPH1 (diphthamide biosynthesis 1)

2003-11-01  

Identity

HGNC
LOCATION
17p13.3
LOCUSID
ALIAS
DEDSSH,DPH2L,DPH2L1,OVCA1
FUSION GENES

Other Information

Locus ID:

NCBI: 1801
MIM: 603527
HGNC: 3003
Ensembl: ENSG00000108963

Variants:

dbSNP: 1801
ClinVar: 1801
TCGA: ENSG00000108963
COSMIC: DPH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108963ENST00000263083Q9BZG8
ENSG00000108963ENST00000263084V9GYS2
ENSG00000108963ENST00000570477Q9BZG8
ENSG00000108963ENST00000570833K7EQQ6
ENSG00000108963ENST00000571418I3L1H5
ENSG00000108963ENST00000571710I3L3X9
ENSG00000108963ENST00000575162V9GYC0
ENSG00000108963ENST00000575667A0A0A0MTR4
ENSG00000108963ENST00000607788U3KQN3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Gamma carboxylation, hypusine formation and arylsulfatase activationREACTOMER-HSA-163841
Synthesis of diphthamide-EEF2REACTOMER-HSA-5358493

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
262208232015Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.13
214879392011OVCA1 inhibits the proliferation of epithelial ovarian cancer cells by decreasing cyclin D1 and increasing p16.7
240706522013Methylation of the DPH1 promoter causes immunotoxin resistance in acute lymphoblastic leukemia cell line KOPN-8.7
291452102017Diphthamide Biosynthesis 1 is a Novel Oncogene in Colorectal Cancer Cells and is Regulated by MiR-218-5p.6
293624922018Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.3
294105132018A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.3

Citation

Dessen P

DPH1 (diphthamide biosynthesis 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40359/dph1