DPH3 (diphthamide biosynthesis 3)

2006-10-01  

Identity

HGNC
LOCATION
3p25.1
LOCUSID
ALIAS
DELGIP,DELGIP1,DESR1,DPH3A,KTI11,ZCSL2
FUSION GENES

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

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

Citation

Dessen P

DPH3 (diphthamide biosynthesis 3)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43559/dph3