Medicine:EIF5A

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Short description: Protein-coding gene in humans


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Eukaryotic translation initiation factor 5A-1 is a protein that in humans is encoded by the EIF5A gene.[1]

It is the only known protein to contain the unusual amino acid hypusine [Nε-(4-amino-2-hydroxybutyl)-lysine], which is synthesized on eIF5A at a specific lysine residue from the polyamine spermidine by two catalytic steps.[2]

EF-P is the bacterial homolog of eIF5A, which is modified post-translationally in a similar but distinct way.[3][4] Both proteins are believed to catalyze peptide bond formation and help resolve ribosomal stalls, making them elongation factors despite the "initiation factor" name originally assigned.[5]

Faundes-Banka syndrome

Long ear is seen in patients with Faundes-Banka syndrome

Germline deleterious heterozygous EIF5A variants cause Faundes-Banka syndrome.[6][7] This rare human disorder is characterized by variable combinations of developmental delay, microcephaly, micrognathia and dysmorphic features. It was named after Víctor Faundes and Siddharth Banka, two geneticists who discovered the condition.

See also

EIF5A2

References

  1. "The eukaryotic cofactor for the human immunodeficiency virus type 1 (HIV-1) rev protein, eIF-5A, maps to chromosome 17p12-p13: three eIF-5A pseudogenes map to 10q23.3, 17q25, and 19q13.2". Genomics 25 (3): 749–752. February 1995. doi:10.1016/0888-7543(95)80025-H. PMID 7759117. 
  2. "Posttranslational synthesis of hypusine: evolutionary progression and specificity of the hypusine modification". Amino Acids 33 (2): 341–350. August 2007. doi:10.1007/s00726-007-0525-0. PMID 17476569. 
  3. "Post-translational modification by β-lysylation is required for activity of Escherichia coli elongation factor P (EF-P)". The Journal of Biological Chemistry 287 (4): 2579–2590. January 2012. doi:10.1074/jbc.M111.309633. PMID 22128152. 
  4. "Lys34 of translation elongation factor EF-P is hydroxylated by YfcM". Nature Chemical Biology 8 (8): 695–697. August 2012. doi:10.1038/nchembio.1001. PMID 22706199. 
  5. "eIF5A and EF-P: two unique translation factors are now traveling the same road". Wiley Interdisciplinary Reviews. RNA 5 (2): 209–222. 2013. doi:10.1002/wrna.1211. PMID 24402910. 
  6. "Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine". Nature Communications 12 (1): 833. February 2021. doi:10.1038/s41467-021-21053-2. PMID 33547280. Bibcode2021NatCo..12..833F. 
  7. "OMIM Entry - # 619376 - FAUNDES-BANKA SYNDROME; FABAS". https://omim.org/entry/619376. 

Further reading

Template:Initiation factors