Human Gene DPH3 (ENST00000383775.4) from GENCODE V44
Description: Homo sapiens diphthamide biosynthesis 3 (DPH3), transcript variant 2, mRNA. (from RefSeq NM_001047434) RefSeq Summary (NM_001047434): This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Feb 2009]. Gencode Transcript: ENST00000383775.4 Gencode Gene: ENSG00000154813.10 Transcript (Including UTRs) Position: hg38 chr3:16,257,979-16,264,969 Size: 6,991 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr3:16,260,764-16,264,876 Size: 4,113 Coding Exon Count: 2
ID:DPH3_HUMAN DESCRIPTION: RecName: Full=DPH3 homolog; AltName: Full=CSL-type zinc finger-containing protein 2; AltName: Full=DelGEF-interacting protein 1; Short=DelGIP1; FUNCTION: Essential for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in elongation factor 2 and which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (By similarity). FUNCTION: Down-regulation increases extracellular release of proteoglycans, indicating a possible role in the secretion process. Stimulates binding of GNEFR to SEC5. INTERACTION: Q9UGK8:SERGEF; NbExp=3; IntAct=EBI-465363, EBI-465368; SUBCELLULAR LOCATION: Cytoplasm. Nucleus. TISSUE SPECIFICITY: Widely expressed with highest levels in small intestine, spleen, thymus, heart, liver and lung. SIMILARITY: Belongs to the DPH3 family. SIMILARITY: Contains 1 DPH-type zinc finger.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96FX2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine GO:0050709 negative regulation of protein secretion GO:0051099 positive regulation of binding
AK022970 - Homo sapiens cDNA FLJ12908 fis, clone NT2RP2004399. LP895459 - Sequence 323 from Patent EP3253886. BC094863 - Homo sapiens cDNA clone IMAGE:4843485. BC073931 - Homo sapiens cDNA clone IMAGE:5200193, partial cds. AK023203 - Homo sapiens cDNA FLJ13141 fis, clone NT2RP3003210. AK092040 - Homo sapiens cDNA FLJ34721 fis, clone MESAN2005766. JD142583 - Sequence 123607 from Patent EP1572962. JD222941 - Sequence 203965 from Patent EP1572962. JD497890 - Sequence 478914 from Patent EP1572962. AK311618 - Homo sapiens cDNA, FLJ18660. BC010181 - Homo sapiens DPH3, KTI11 homolog (S. cerevisiae), mRNA (cDNA clone MGC:20197 IMAGE:4543414), complete cds. JF432467 - Synthetic construct Homo sapiens clone IMAGE:100073686 DPH3, KTI11 homolog (S. cerevisiae) (DPH3) gene, encodes complete protein. KJ896002 - Synthetic construct Homo sapiens clone ccsbBroadEn_05396 DPH3 gene, encodes complete protein.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q96FX2 (Reactome details) participates in the following event(s):
R-HSA-5358494 DPH2 transfers a 3-amino-3-carboxypropyl group from AdoMet to residue 715 of nascent EEF2 R-HSA-5358493 Synthesis of diphthamide-EEF2 R-HSA-163841 Gamma carboxylation, hypusine formation and arylsulfatase activation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins