Protein isoform

Protein A, B and C are isoforms encoded from the same gene through alternative splicing.

A protein isoform, or "protein variant",[1] is a member of a set of highly similar proteins that originate from a single gene and are the result of genetic differences.[2] While many perform the same or similar biological roles, some isoforms have unique functions. A set of protein isoforms may be formed from alternative splicings, variable promoter usage, or other post-transcriptional modifications of a single gene; post-translational modifications are generally not considered. (For that, see Proteoforms.) Through RNA splicing mechanisms, mRNA has the ability to select different protein-coding segments (exons) of a gene, or even different parts of exons from RNA to form different mRNA sequences. Each unique sequence produces a specific form of a protein.

The discovery of isoforms could explain the discrepancy between the small number of protein coding regions of genes revealed by the human genome project and the large diversity of proteins seen in an organism: different proteins encoded by the same gene could increase the diversity of the proteome. Isoforms at the RNA level are readily characterized by cDNA transcript studies. Many human genes possess confirmed alternative splicing isoforms. It has been estimated that ~100,000 expressed sequence tags (ESTs) can be identified in humans.[1] Isoforms at the protein level can manifest in the deletion of whole domains or shorter loops, usually located on the surface of the protein.[3]

  1. ^ a b Brett D, Pospisil H, Valcárcel J, Reich J, Bork P (January 2002). "Alternative splicing and genome complexity". Nature Genetics. 30 (1): 29–30. doi:10.1038/ng803. PMID 11743582. S2CID 2724843.
  2. ^ Schlüter H, Apweiler R, Holzhütter HG, Jungblut PR (September 2009). "Finding one's way in proteomics: a protein species nomenclature". Chemistry Central Journal. 3: 11. doi:10.1186/1752-153X-3-11. PMC 2758878. PMID 19740416.
  3. ^ Kozlowski, L.; Orlowski, J.; Bujnicki, J. M. (2012). "Structure Prediction for Alternatively Spliced Proteins". Alternative pre-mRNA Splicing. p. 582. doi:10.1002/9783527636778.ch54. ISBN 9783527636778.