Medicine:EIF5A
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Short description: Protein-coding gene in humans
 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]
Clinical relevance
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.
References
- ↑ "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.
- ↑ "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.
- ↑ "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.
- ↑ "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.
- ↑ "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.
- ↑ "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. Bibcode: 2021NatCo..12..833F.
- ↑ "OMIM Entry - # 619376 - FAUNDES-BANKA SYNDROME; FABAS". https://omim.org/entry/619376.
Further reading
- "Eukaryotic initiation factor 5A activity and HIV-1 Rev function". Biological Signals 6 (3): 124–133. 1997. doi:10.1159/000109118. PMID 9285095.
- "Roles of HIV-1 auxiliary proteins in viral pathogenesis and host-pathogen interactions". Cell Research 15 (11–12): 923–934. 2006. doi:10.1038/sj.cr.7290370. PMID 16354571.
- "Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes". Electrophoresis 13 (12): 960–969. December 1992. doi:10.1002/elps.11501301199. PMID 1286667.
- "Eukaryotic initiation factor 5A: the molecular form of the hypusine-containing protein from human erythrocytes". Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology 1076 (3): 448–451. February 1991. doi:10.1016/0167-4838(91)90490-q. PMID 1900436.
- "Sequence determination and cDNA cloning of eukaryotic initiation factor 4D, the hypusine-containing protein". The Journal of Biological Chemistry 264 (3): 1578–1583. January 1989. doi:10.1016/S0021-9258(18)94226-2. PMID 2492279.
- "Eukaryotic initiation factor 4D. Purification from human red blood cells and the sequence of amino acids around its single hypusine residue". The Journal of Biological Chemistry 261 (31): 14515–14519. November 1986. doi:10.1016/S0021-9258(18)66899-1. PMID 3095320.
- "The genomic structure encoding human initiation factor eIF-5A". Gene 144 (2): 249–252. July 1994. doi:10.1016/0378-1119(94)90385-9. PMID 7545941.
- "Isolation and structural characterization of different isoforms of the hypusine-containing protein eIF-5A from HeLa cells". Biochemistry 34 (45): 14693–14702. November 1995. doi:10.1021/bi00045a010. PMID 7578077.
- "Identification of a new member of the human eIF-5A gene family". Gene 159 (2): 283–284. July 1995. doi:10.1016/0378-1119(95)00136-T. PMID 7622067.
- "Structural features of the eIF-5A precursor required for posttranslational synthesis of deoxyhypusine". The Journal of Biological Chemistry 269 (41): 25916–25921. October 1994. doi:10.1016/S0021-9258(18)47333-4. PMID 7929297.
- "Induced gene expression of the hypusine-containing protein eukaryotic initiation factor 5A in activated human T lymphocytes". Proceedings of the National Academy of Sciences of the United States of America 91 (23): 10829–10833. November 1994. doi:10.1073/pnas.91.23.10829. PMID 7971969. Bibcode: 1994PNAS...9110829B.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–174. January 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Eukaryotic initiation factor 5A is a cellular target of the human immunodeficiency virus type 1 Rev activation domain mediating trans-activation". The Journal of Cell Biology 123 (6 Pt 1): 1309–1320. December 1993. doi:10.1083/jcb.123.6.1309. PMID 8253832.
- "Interaction of eukaryotic initiation factor 5A with the human immunodeficiency virus type 1 Rev response element RNA and U6 snRNA requires deoxyhypusine or hypusine modification". Biological Signals 6 (3): 166–174. 1997. doi:10.1159/000109123. PMID 9285100.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–156. October 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Identification of the eukaryotic initiation factor 5A as a retinoic acid-stimulated cellular binding partner for tissue transglutaminase II". The Journal of Biological Chemistry 273 (4): 1946–1950. January 1998. doi:10.1074/jbc.273.4.1946. PMID 9442029.
- "Interaction of the HIV-1 rev cofactor eukaryotic initiation factor 5A with ribosomal protein L5". Proceedings of the National Academy of Sciences of the United States of America 95 (4): 1607–1612. February 1998. doi:10.1073/pnas.95.4.1607. PMID 9465063. Bibcode: 1998PNAS...95.1607S.
- "Complex formation between deoxyhypusine synthase and its protein substrate, the eukaryotic translation initiation factor 5A (eIF5A) precursor". The Biochemical Journal 340 (1): 273–281. May 1999. doi:10.1042/0264-6021:3400273. PMID 10229683.
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