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EIF1AX

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EIF1AX
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEIF1AX, EIF1A, EIF1AP1, EIF4C, eIF-1A, eIF-4C, eukaryotic translation initiation factor 1A, X-linked, eukaryotic translation initiation factor 1A X-linked
External IDsOMIM: 300186; MGI: 95298; HomoloGene: 20364; GeneCards: EIF1AX; OMA:EIF1AX - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001412

NM_010120
NM_001374654

RefSeq (protein)

NP_001403

NP_034250

Location (UCSC)Chr X: 20.12 – 20.14 MbChr 18: 46.73 – 46.75 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Eukaryotic translation initiation factor 1A, X-chromosomal (eIF1A) is a protein that in humans is encoded by the EIF1AX gene.[5][6][7] This gene encodes an essential eukaryotic translation initiation factor. The protein is a component of the 43S pre-initiation complex (PIC), which mediates the recruitment of the small 40S ribosomal subunit to the 5' cap of messenger RNAs.[7]

Function

eIF1A is a small proteins (17 kDa in budding yeast) and a component of the 43S preinitiation complexes (PIC). eIF1A binds near the ribosomal A-site, in a manner similar to the functionally related bacterial counterpart IF1.[8]

Clinical significance

Mutations in this gene have been recurrently seen associated to cases of uveal melanoma with disomy 3.[9]

Interactions

EIF1AX has been shown to interact with IPO13.[10]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000173674Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057561Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Dever TE, Wei CL, Benkowski LA, Browning K, Merrick WC, Hershey JW (Feb 1994). "Determination of the amino acid sequence of rabbit, human, and wheat germ protein synthesis factor eIF-4C by cloning and chemical sequencing". The Journal of Biological Chemistry. 269 (5): 3212–8. PMID 8106356.
  6. ^ Lahn BT, Page DC (Oct 1997). "Functional coherence of the human Y chromosome". Science. 278 (5338): 675–80. Bibcode:1997Sci...278..675L. doi:10.1126/science.278.5338.675. PMID 9381176.
  7. ^ a b "Entrez Gene: EIF1AX eukaryotic translation initiation factor 1A, X-linked".
  8. ^ Fraser, Christopher S. (2015). "Quantitative studies of mRNA recruitment to the eukaryotic ribosome". Biochimie. 114: 58–71. doi:10.1016/j.biochi.2015.02.017. PMC 4458453. PMID 25742741. Retrieved 6 March 2016.
  9. ^ Martin M, Maßhöfer L, Temming P, Rahmann S, Metz C, Bornfeld N, van de Nes J, Klein-Hitpass L, Hinnebusch AG, Horsthemke B, Lohmann DR, Zeschnigk M (Aug 2013). "Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3". Nature Genetics. 45 (8): 933–6. doi:10.1038/ng.2674. PMID 23793026.
  10. ^ Mingot JM, Kostka S, Kraft R, Hartmann E, Görlich D (Jul 2001). "Importin 13: a novel mediator of nuclear import and export". The EMBO Journal. 20 (14): 3685–94. doi:10.1093/emboj/20.14.3685. PMC 125545. PMID 11447110.

Further reading