Biology:C11orf53

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Short description: Protein-coding gene in the species Homo sapiens
A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Chromosome 11 open reading frame 53 is a protein that in humans is encoded by the C11orf53 gene.[1] Reduction in C11orf53 gene expression is associated with increased odds of occurrence of colorectal cancer.[2] Specifically sequence variation (rs3802842) close to the C11orf53 gene locus that lowers the expression of C11orf53 has been observed in the colonic mucosal cells immediately adjacent to colon cancer tumors.[3][4] C11orf53 downregulation aids in cells' ability to survive in acidic conditions, which are typical of the tumor microenvironment.[5] CRISPR-Cas9 inactivation of C11orf53 in an acute myeloid leukemia cell line made the cells resistant to the BCL2 inhibitor Venetoclax, further supporting a role in cancer predisposition.[6][7]

Additional roles have been proposed.[8][9]

References

  1. ↑ "C11orf53 chromosome 11 open reading frame 53 [Homo sapiens (human) - Gene - NCBI"]. https://www.ncbi.nlm.nih.gov/gene/341032. 
  2. ↑ "Open reading frames associated with cancer in the dark matter of the human genome". Cancer Genomics & Proteomics 11 (4): 201–213. July 2014. PMID 25048349. 
  3. ↑ "Identification and characterization of functional risk variants for colorectal cancer mapping to chromosome 11q23.1". Human Molecular Genetics 23 (8): 2198–2209. April 2014. doi:10.1093/hmg/ddt584. PMID 24256810. 
  4. ↑ "Identification of candidate susceptibility genes for colorectal cancer through eQTL analysis". Carcinogenesis 35 (9): 2039–2046. September 2014. doi:10.1093/carcin/bgu092. PMID 24760461. 
  5. ↑ "The Oncogenic PRL Protein Causes Acid Addiction of Cells by Stimulating Lysosomal Exocytosis". Developmental Cell 55 (4): 387–397.e8. November 2020. doi:10.1016/j.devcel.2020.08.009. PMID 32918875. 
  6. ↑ "C11orf53 CRISPR Screens (Homo sapiens)". https://orcs.thebiogrid.org/Gene/341032. 
  7. ↑ "The TP53 Apoptotic Network Is a Primary Mediator of Resistance to BCL2 Inhibition in AML Cells". Cancer Discovery 9 (7): 910–925. July 2019. doi:10.1158/2159-8290.CD-19-0125. PMID 31048320. 
  8. ↑ "C11orf53 chromosome 11 open reading frame 53 [Homo sapiens (human) - Gene - NCBI"]. https://www.ncbi.nlm.nih.gov/gene/341032. 
  9. ↑ "Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein". The Journal of Biological Chemistry 286 (39): 34088–34100. September 2011. doi:10.1074/jbc.M111.243907. PMID 21832049. 



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