background:
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]
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.
Down-regulation increases extracellular release of proteoglycans, indicating a possible role in the secretion process. Stimulates binding of GNEFR to SEC5.
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.
Contains 1 DPH-type zinc finger.
Database links:
Entrez Gene: 285381 Human
Omim: 608959 Human
SwissProt: Q96FX2 Human
Unigene: 317687 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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