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lördag 13 juni 2020

Lysiiniin PTM modifikaatio Hypusiini (N-e-4-amino-2-OH-butyyli)lysiini esiintyy vain eIF-5A- proteiinissa

https://pubmed.ncbi.nlm.nih.gov/19997760/

doi: 10.1007/s00726-009-0408-7. Epub 2009 Dec 8.
Functional Significance of eIF5A and Its Hypusine Modification in Eukaryotes
Affiliations
Free PMC article

Abstract
The unusual basic amino acid, hypusine [N(epsilon)-(4-amino-2-hydroxybutyl)-lysine], is a modified lysine with the addition of the 4-aminobutyl moiety from the polyamine spermidine. This naturally occurring amino acid is a product of a unique posttranslational modification that occurs in only one cellular protein, eukaryotic translation initiation factor 5A (eIF5A, eIF-5A).
 Hypusine is synthesized exclusively in this protein by two sequential enzymatic steps involving deoxyhypusine synthase (DHS) and deoxyhypusine hydroxylase (DOHH). The deoxyhypusine/hypusine synthetic pathway has evolved in archaea and eukaryotes, and eIF5A, DHS and DOHH are highly conserved suggesting a vital cellular function of eIF5A. Gene disruption and mutation studies in yeast and higher eukaryotes have provided valuable information on the essential nature of eIF5A and the deoxyhypusine/hypusine modification in cell growth and in protein synthesis. In view of the extraordinary specificity and functional significance of hypusine-containing eIF5A in mammalian cell proliferation, eIF5A and the hypusine biosynthetic enzymes are novel potential targets for intervention in aberrant cell proliferation.

DHPS (19p13.13)

https://www.genecards.org/cgi-bin/carddisp.pl?gene=DHPS&keywords=DHPS
 Aliases for DHPS Gene
  • Deoxyhypusine Synthase 2 3 4 5
  • Migration-Inducing Gene 13 2 3
  • EC 2.5.1.46 4 52
  • DHS 3 4
  • DS 3 4
  • EC 2.5.1 52
  • NEDSSWI 3
  • MIG13 3
DHPS Gene:  This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]
GeneCards Summary for DHPS Gene
DHPS (Deoxyhypusine Synthase) is a Protein Coding gene. Diseases associated with DHPS include Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment and Pneumocystosis. Among its related pathways are Metabolism of proteins and Gamma carboxylation, hypusine formation and arylsulfatase activation. Gene Ontology (GO) annotations related to this gene include deoxyhypusine synthase activity. An important paralog of this gene is ENSG00000285589.
UniProtKB/Swiss-Prot Summary for DHPS Gene
Catalyzes the NAD-dependent oxidative cleavage of spermidine and the subsequent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a critical lysine residue of the eIF-5A precursor protein to form the intermediate deoxyhypusine residue (PubMed:30661771). This is the first step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine. Hypusination is unique to mature eIF-5A factor and is essential for its function. DHYS_HUMAN,P49366.
 Protein attributes for DHPS Gene
Size: 369 amino acids Molecular mass: 40971 Da 
Cofactor Name=NAD(+); Xref=ChEBI:CHEBI:57540;
Quaternary structure: Homotetramer formed by a dimer of dimers.
Miscellaneous: [Isoform Short]: Inactive.
SequenceCaution: Sequence=AL520040; Type=Frameshift; Evidence={ECO:0000305}; 

DOHH ( 19p13.3) NM_031304.5NP_112594.1  deoxyhypusine hydroxylase

 https://www.genecards.org/cgi-bin/carddisp.pl?gene=DOHH&keywords=DOHH
Aliases for DOHH Gene
  • Deoxyhypusine Hydroxylase 2 3 4 5
  • HEAT-Like (PBS Lyase) Repeat Containing 1 2 3
  • Deoxyhypusine Hydroxylase/Monooxygenase 2 3
  • HEAT-Like Repeat-Containing Protein 1 3 4
  • Deoxyhypusine Monooxygenase 3 4
  • Deoxyhypusine Dioxygenase 3 4
  • EC 1.14.99.29 4 52
  • HLRC1 3 4
  • HDOHH 3 4
External Ids for DOHH Gene: This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
GeneCards Summary for DOHH Gene
DOHH (Deoxyhypusine Hydroxylase) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Gamma carboxylation, hypusine formation and arylsulfatase activation. Gene Ontology (GO) annotations related to this gene include binding and deoxyhypusine monooxygenase activity.
UniProtKB/Swiss-Prot Summary for DOHH Gene: Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)-L-lysine intermediate produced by deoxyhypusine synthase/DHPS on a critical lysine of the eukaryotic translation initiation factor 5A/eIF-5A. This is the second step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine (PubMed:16533814, PubMed:16371467, PubMed:19706422). Hypusination is unique to mature eIF-5A factor and is essential for its function (By similarity). DOHH_HUMAN,Q9BU89
 Protein attributes for DOHH Gene
Size:302 amino acids. Molecular mass: 32904 Da. Cofactor: Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Quaternary structure: No Data Available
 DOI: 10.1016/j.str.2015.03.002 

Highlights
  • Spectroscopic studies demonstrate extreme longevity of hDOHH peroxo intermediate
  • Crystal structures of hDOHH were solved in two forms, peroxo and glycerol complex
  • The diiron core environment explains the unusual stability of the peroxo intermediate
  • A docking experiment provides a plausible model for deoxyhypusine binding to hDOHH

    The polyamine-hypusine pathway. The most common polyamines are putrescine, spermidine and spermine, which are predominantly derived from the amino acids ornithine and methionine. One of the polyamines, spermidine, is used as the substrate to synthesize a unique amino acid coined hypusine, which is covalently linked to the lysine-50 residue of eIF5A. In cancer cells, ornithine decarboxylase 1 (ODC1), the enzyme catalyzing the first step of polyamine biosynthesis, is often up-regulated, especially in Myc-driven malignant cancers, which in turn, increases levels of polyamines. As a result, the levels of polyamines are elevated in cancer cells. 2-difluoromethylornithine (DFMO) is suicide inhibitor of ODC1 and has shown impressive efficacy in several clinical cancer prevention trials, including colon and prostate cancer. Hypusination of eIF5A is mediated by two enzymes, DHPS and DOHH. Hypusination is conserved among all eukaryotes. MAT methionine adenosyltransferase, SAM S-adenosyl-l-methionine, AMD1 AdoMet decarboxylase, SRM spermidine synthase, SMS spermine synthase, SMO spermine oxidase, SSAT spermidine/ spermine N1-acetyltransferase, PAO polyamine oxidase

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