DPH1 (diphthamide biosynthesis 1)

2003-11-01  

Identity

HGNC
DPH1
LOCATION
17p13.3
LOCUSID
1801
ALIAS
DEDSSH,DPH2L,DPH2L1,OVCA1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376754632023DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models.4
376754632023DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models.4
349908692022The functional variant in promoter of OVCA1 was associated with the risk of gastric cancer in the northeast Chinese Han population.0
349908692022The functional variant in promoter of OVCA1 was associated with the risk of gastric cancer in the northeast Chinese Han population.0
337049022021An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome).2
337049022021An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome).2
308772782020DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.10
330573312020Identification of the transcription factor Miz1 as an essential regulator of diphthamide biosynthesis using a CRISPR-mediated genome-wide screen.2
308772782020DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.10
330573312020Identification of the transcription factor Miz1 as an essential regulator of diphthamide biosynthesis using a CRISPR-mediated genome-wide screen.2
293624922018Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.7
294105132018A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.9
293624922018Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.7
294105132018A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.9
291452102017Diphthamide Biosynthesis 1 is a Novel Oncogene in Colorectal Cancer Cells and is Regulated by MiR-218-5p.11

Citation

Dessen P

DPH1 (diphthamide biosynthesis 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

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