| Written | 2020-03 | Luigi Cristiano |
| Aesthetic and medical biotechnologies research unit, Prestige, Terranuova Bracciolini, Italy; prestige.infomed@gmail.com - luigicristiano@libero.it |
| Abstract | EEF1E1-BLOC1S5 is a long non-coding RNA that derives from the read-through transcription between the neighboring EEF1E1 and BLOC1S5 genes. This review collects the data on DNA/RNA and the diseases where it is involved. |
| Keywords | EEF1E1-BLOC1S5; EEF1E1-MUTED; EEF1E1-BLOC1S5 readthrough; lncRNA |
| Identity |
| Other alias | EEF1E1-BLOC1S5 readthrough |
| EEF1E1-MUTED | |
| lnc-EEF1E1-2 | |
| HGNC (Hugo) | EEF1E1-BLOC1S5 |
| LocusID (NCBI) | 100526837 |
| Atlas_Id | 62733 |
| Location | 6p24.3 [Link to chromosome band 6p24] |
| Location_base_pair | Starts at 8013567 and ends at 8102595 bp from pter ( according to hg19-Feb_2009) [Mapping EEF1E1-BLOC1S5.png] |
| Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
| EEF1E1-BLOC1S5/ZNF384 | EEF1E1-BLOC1S5/NCOR1 | EEF1E1-BLOC1S5/NSMCE4A | |
| CDYL/EEF1E1-BLOC1S5 |
| DNA/RNA |
 | |
| Figure. 1. EEF1E1-BLOC1S5 lncRNA. The figure shows the locus on chromosome 6 for EEF1E1-BLOC1S5 (reworked from https://www.ncbi.nlm.nih.gov/gene; http://grch37.ensembl.org; www.genecards.org) | |
| Description | EEF1E1-BLOC1S5 was identified for the first time by Prakash and colleagues in 2010 (Prakash et al, 2010). It starts at 8,013,567 nt and ends at 8,102,595 nt from pter with a length of 89,029 bp. It counts 7 exons and the current reference sequence is NC_000006.12. Near to the genomic sequence of EEF1E1-BLOC1S5 there is a strong promoter transcriptional element that is located at +1.0 kb. Enhancer transcriptional elements are located at +38.2 Kb and at +18.1 Kb respectively. |
| Transcription | EEF1E1-BLOC1S5 counts 2,992 bp and it is a long non-coding RNA with reference sequence NR_037618.1. It derives from the read-through transcription between the neighboring EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) and MUTED (muted homolog) genes on chromosome 6. MUTED gene, alias BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5), is a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1) complex that is involved in the biogenesis of organelles like melanosomes and platelet-dense granules. It is a chimeric RNA, i.e. an RNA with a sequence derived from two genes and its transcriptional and post-transcriptional regulations could be the same as those of the other known-genes (He et al, 2018). It was not possible to find experimentally a protein product for this chimeric RNA (Fagerberg et al, 2014), although in some databases is reported a theoretical protein product of 151 amino acids, with a predicted weight of 17,02 kDa and isoelectric point of 7.39 (https://www.uniprot.org/uniprot/C9J1V9; http://www.ensembl.org/Homo_sapiens/Transcript/ProteinSummary?g=ENSG00000265818;r=6:8015726-8102530;t=ENST00000397456). Therefore EEF1E1-BLOC1S5 is a candidate for nonsense-mediated mRNA decay (NMD) because it is unlikely to produce a protein product. |
| Protein |
| Expression | EEF1E1-BLOC1S5 ncRNA is transcribed (but not translated) widely in human tissues and normal cells. In memory B cells, it was found that the EEF1E1-BLOC1S5 is downregulated in the early gene expression (Day3-Day 0) following seasonal trivalent influenza vaccination in older individuals (Haralambieva et al, 2016) |
| Implicated in |
| Note | LncRNAs are nowadays considered as emerging key regulators of cellular processes and they are often aberrantly expressed in various diseases (Kumar et al, 2019). EEF1E1-BLOC1S5 is not been still well-characterized, i.e. it is still unclear its physiologic role in the cell and its involvement in diseases when its expression is altered, however it is involved in some genomic translocations with the creation of several fusion genes (Table.1).
Table.1 EEF1E1-BLOC1S5 rearrangements: translocations and fusion genes (reworked from: http://www.tumorfusions.org; https://mitelmandatabase.isb-cgc.org/; http://quiver.archerdx.com; http://atlasgeneticsoncology.org//Bands/6p24.html#REFERENCES; https://fusionhub.persistent.co.in/home.html). [ (?) ] unknown; [ 1 ] Campbell et al, 2020; [ 2 ] Robinson et al, 2015; [ - ] no reference | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Entity | Prostate cancer | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Note | Two genomic translocations were found in prostate cancer samples derived from patients, i.e. the t(6;17)(p24;p12) EEF1E1-BLOC1S5/NCOR1 and the t(6;12)(p24;p13) EEF1E1-BLOC1S5/ZNF384 (Robinson et al., 2015). The t(6;17)(p24;p12) EEF1E1-BLOC1S5/NCOR1 is originated by the fusion of EEF1E1-BLOC1S5 gene at 5'-end with "nuclear receptor corepressor 1" (NCOR1) gene at 3' end while the t(6;12)(p24;p13) EEF1E1-BLOC1S5/ZNF384 NCOR1 is originated by the fusion of EEF1E1-BLOC1S5 gene at 5'-end with "zinc finger protein 384" ( ZNF384) gene at 3'. There are no data about the respective chimeric transcripts or proteins and the role of these genomic alterations is still unknown. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Entity | Cystic fibrosis | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Note | EEF1E1-BLOC1S5 is found to be over-expressed in cystic fibrosis (CF) airway tissues respect control tissues and it may play an important role in the pathophysiology of CF lung disease. However, further studies are needed to understanding its exact role in this disease (Kumar et al, 2019). | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bibliography |
| Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics |
| Fagerberg L, Hallström BM, Oksvold P, Kampf C, Djureinovic D, Odeberg J, Habuka M, Tahmasebpoor S, Danielsson A, Edlund K, Asplund A, Sjöstedt E, Lundberg E, Szigyarto CA, Skogs M, Takanen JO, Berling H, Tegel H, Mulder J, Nilsson P, Schwenk JM, Lindskog C, Danielsson F, Mardinoglu A, Sivertsson A, von Feilitzen K, Forsberg M, Zwahlen M, Olsson I, Navani S, Huss M, Nielsen J, Ponten F, Uhlén M |
| Mol Cell Proteomics 2014 Feb;13(2):397-406 |
| PMID 24309898 |
| Transcriptional signatures of influenza A/H1N1-specific IgG memory-like B cell response in older individuals |
| Haralambieva IH, Ovsyannikova IG, Kennedy RB, Zimmermann MT, Grill DE, Oberg AL, Poland GA |
| Vaccine 2016 Jul 25;34(34):3993-4002 |
| PMID 27317456 |
| Transcriptional-Readthrough RNAs Reflect the Phenomenon of "A Gene Contains Gene(s)" or "Gene(s) within a Gene" in the Human Genome, and Thus Are Not Chimeric RNAs |
| He Y, Yuan C, Chen L, Lei M, Zellmer L, Huang H, Liao DJ |
| Genes (Basel) 2018 Jan 16;9(1) |
| PMID 29337901 |
| Pan-cancer analysis of whole genomes |
| ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium |
| Nature 2020 Feb;578(7793):82-93 |
| PMID 32025007 |
| Comparative analyses of long non-coding RNA profiles in vivo in cystic fibrosis lung airway and parenchyma tissues |
| Kumar P, Sen C, Peters K, Frizzell RA, Biswas R |
| Respir Res 2019 Dec 16;20(1):284 |
| PMID 31842871 |
| Integrative Clinical Genomics of Advanced Prostate Cancer |
| Robinson D, Van Allen EM, Wu YM, Schultz N, Lonigro RJ, Mosquera JM, Montgomery B, Taplin ME, Pritchard CC, Attard G, Beltran H, Abida W, Bradley RK, Vinson J, Cao X, Vats P, Kunju LP, Hussain M, Feng FY, Tomlins SA, Cooney KA, Smith DC, Brennan C, Siddiqui J, Mehra R, Chen Y, Rathkopf DE, Morris MJ, Solomon SB, Durack JC, Reuter VE, Gopalan A, Gao J, Loda M, Lis RT, Bowden M, Balk SP, Gaviola G, Sougnez C, Gupta M, Yu EY, Mostaghel EA, Cheng HH, Mulcahy H, True LD, Plymate SR, Dvinge H, Ferraldeschi R, Flohr P, Miranda S, Zafeiriou Z, Tunariu N, Mateo J, Perez-Lopez R, Demichelis F, Robinson BD, Sboner A, Schiffman M, Nanus DM, Tagawa ST, Sigaras A, Eng KW, Elemento O, Sboner A, Heath EI, Scher HI, Pienta KJ, Kantoff P, de Bono JS, Rubin MA, Nelson PS, Garraway LA, Sawyers CL, Chinnaiyan AM |
| Cell 2015 Jul 16;162(2):454 |
| PMID 28843286 |
| Citation |
| This paper should be referenced as such : |
| Cristiano Luigi |
| EEF1E1-BLOC1S5 |
| Atlas Genet Cytogenet Oncol Haematol. 2020;24(10):366-368. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/EEF1E1-BLOC1S5ID62733ch6p24.html |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Jun 30 20:41:16 CEST 2020 |
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