DPH3 (diphthamide biosynthesis 3)

2006-10-01  

Identity

HGNC
DPH3
LOCATION
3p25.1
LOCUSID
285381
ALIAS
DELGIP,DELGIP1,DESR1,DPH3A,KTI11,ZCSL2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 285381
MIM: 608959
HGNC: 27717
Ensembl: ENSG00000154813

Variants:

dbSNP: 285381
ClinVar: 285381
TCGA: ENSG00000154813
COSMIC: DPH3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154813ENST00000383775Q96FX2
ENSG00000154813ENST00000488423Q96FX2
ENSG00000154813ENST00000488423A0A024R2P5

Expression (GTEx)

0
5
10
15
20
25
30
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
nasopharynx
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
264164252015Frequent DPH3 promoter mutations in skin cancers.31
264164252015Frequent DPH3 promoter mutations in skin cancers.31
182149552008Solution structure of human DESR1, a CSL zinc-binding protein.2
182149552008Solution structure of human DESR1, a CSL zinc-binding protein.2
149805022004Characterisation of an evolutionary conserved protein interacting with the putative guanine nucleotide exchange factor DelGEF and modulating secretion.6
149805022004Characterisation of an evolutionary conserved protein interacting with the putative guanine nucleotide exchange factor DelGEF and modulating secretion.6

Citation

Dessen P

DPH3 (diphthamide biosynthesis 3)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43559/dph3-(diphthamide-biosynthesis-3)