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DPH2
Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). Belongs to the DPH1/DPH2 family. DPH2 subfamily. Strongly expressed in skeletal muscle. Moderately expressed in heart, small intestine, liver, pancreas, testis and colon. Weakly expressed in brain, placenta, kidney, spleen, thymus, prostate, ovary and lymphocytes. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Chromosomal Location of human Ortholog: 1p34.1 |
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Cellular Component:
cytosol; protein-containing complex
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Molecular Function:
2-(3-amino-3-carboxypropyl)histidine synthase activity; 4 iron, 4 sulfur cluster binding; metal ion binding; protein binding
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Biological Process:
peptidyl-diphthamide biosynthetic process from peptidyl-histidine
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Disease: Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
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Reference #:
Q9BQC3
(UniProtKB)
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Alt. Names/Synonyms: 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2; diphthamide biosynthesis 2; Diphthamide biosynthesis protein 2; Diphthamide biosynthesis protein 2 homolog-like 2; diphthamide biosynthesis-like protein 2; Diphtheria toxin resistance protein 2; diptheria toxin resistance protein required for diphthamide biosynthesis-like 2; DPH2; DPH2 homolog; DPH2 homolog (S. cerevisiae); DPH2-like 2; DPH2L2; HsDph2; S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2
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Gene Symbols: DPH2
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Molecular weight:
52,083 Da
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Basal Isoelectric point:
5.36
Predict pI for various phosphorylation states
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