| Written | 2008-02 | Yang Chen, Sean Tavtigian, Donna Shattuck |
| Myriad Genetics, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA |
| Identity |
| Alias_names | elaC (E. coli) homolog 2 |
| elaC homolog 2 (E. coli) | |
| Alias_symbol (synonym) | FLJ10530 |
| HPC2 | |
| Other alias | TRZ1 (tRNaseZL) |
| HGNC (Hugo) | ELAC2 |
| LocusID (NCBI) | 60528 |
| Atlas_Id | 40437 |
| Location | 17p12 [Link to chromosome band 17p12] |
| Location_base_pair | Starts at 12991612 and ends at 13018064 bp from pter ( according to hg19-Feb_2009) [Mapping ELAC2.png] |
| Local_order | Telomeric to HS3ST3A1 and centromeric to KIAA0672. |
| Fusion genes (updated 2016) | DLST (14q24.3) / ELAC2 (17p12) | ELAC2 (17p12) / COX10 (17p12) | RPSAP52 (12q14.3) / ELAC2 (17p12) |
| Note | There is a human paralog of this gene on chromosome 18 called ELAC1 that is homologous to the C-terminal half of ELAC2. |
| DNA/RNA |
| Note | Ubiquitously expressed in a variety of tissues, tumors and developmental stages. |
| Description | The genomic size of ELAC2 gene is about 25.6 kb representing a mRNA of 2966 bp with 26 exons. |
| Transcription | There is no evidence of alternative splicing of the transcript. |
| Pseudogene | No known pseudogenes. |
| Protein |
| Description | ELAC2 gene encodes a protein of 826 amino acids. Orthologs are found in Eukaryotes including M. musculus, R. norvegicus, C. elegans, D. melanogaster, S. cerevisiae, S. pombe and A. thaliana. |
| Expression | Not determined. |
| Localisation | Not determined. But is implicated in nucleus upon overexpression in cell lines. Yeast ortholog (TRZ1p) is detected in cytosol, nucleus and mitochondria via large-scale analysis with GFP tagged gene product. |
| Function | ELAC2 has tRNA processing activity as detected by in vitro biochemistry assays. The N-terminus of ELAC2 is required for the Rnase 65 activity. The C-terminus (481-826 aa) of ELAC2, which is homologous to ELAC1, possesses tRNA 3' processing endoribonuclease acitivity (tRNaseZ). Overexpressed ELAC2 binds gamma-tubulin complex and is involved in cell cycle regulation. ELAC2 has also been shown to potentiate TGF-beta-induced growth arrest of prostate cells via over-expression upon transfection and down-regulation via siRNA. |
| Mutations |
| Germinal | One pedigree-specific insertion/frameshift, 1641insG, resulting in frameshift after L547, and leading to termination after the miscoding of 67 residues. Four missense variants, S217L, A541T, E622V and R781H. |
| Somatic | Not determined. |
| Implicated in |
| Note | |
| Entity | Prostate Cancer |
| Note | TGF-beta signaling mediated growth arrest via physical interactions with Smad2 / Smad3 and FAST-1, and potentiation of Smad2-driven (ARE)2-Luciferease reporter activity. Also implicated in RNA processing. |
| Disease | Hereditary prostate cancer and sporadic prostate cancer. |
| Bibliography |
| Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z. |
| Chen Y, Beck A, Davenport C, Chen Y, Shattuck D, Tavtigian SV |
| BMC molecular biology. 2005 ; 6 (1) : page 12. |
| PMID 15892892 |
| Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series. |
| Fujiwara H, Emi M, Nagai H, Nishimura T, Konishi N, Kubota Y, Ichikawa T, Takahashi S, Shuin T, Habuchi T, Ogawa O, Inoue K, Skolnick MH, Swensen J, Camp NJ, Tavtigian SV |
| Journal of human genetics. 2002 ; 47 (12) : 641-648. |
| PMID 12522685 |
| Assigning function to yeast proteins by integration of technologies. |
| Hazbun TR, Malmström L, Anderson S, Graczyk BJ, Fox B, Riffle M, Sundin BA, Aranda JD, McDonald WH, Chiu CH, Snydsman BE, Bradley P, Muller EG, Fields S, Baker D, Yates JR 3rd, Davis TN |
| Molecular cell. 2003 ; 12 (6) : 1353-1365. |
| PMID 14690591 |
| Global analysis of protein localization in budding yeast. |
| Huh WK, Falvo JV, Gerke LC, Carroll AS, Howson RW, Weissman JS, O'Shea EK |
| Nature. 2003 ; 425 (6959) : 686-691. |
| PMID 14562095 |
| The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex. |
| Korver W, Guevara C, Chen Y, Neuteboom S, Bookstein R, Tavtigian S, Lees E |
| International journal of cancer. Journal international du cancer. 2003 ; 104 (3) : 283-288. |
| PMID 12569551 |
| ELAC2, a putative prostate cancer susceptibility gene product, potentiates TGF-beta/Smad-induced growth arrest of prostate cells. |
| Noda D, Itoh S, Watanabe Y, Inamitsu M, Dennler S, Itoh F, Koike S, Danielpour D, ten Dijke P, Kato M |
| Oncogene. 2006 ; 25 (41) : 5591-5600. |
| PMID 16636667 |
| ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer. |
| Rökman A, Ikonen T, Mononen N, Autio V, Matikainen MP, Koivisto PA, Tammela TL, Kallioniemi OP, Schleutker J |
| Cancer research. 2001 ; 61 (16) : 6038-6041. |
| PMID 11507049 |
| Polymorphisms in the prostate cancer susceptibility gene HPC2/ELAC2 in multiplex families and healthy controls. |
| Suarez BK, Gerhard DS, Lin J, Haberer B, Nguyen L, Kesterson NK, Catalona WJ |
| Cancer research. 2001 ; 61 (13) : 4982-4984. |
| PMID 11431329 |
| The N-terminal half-domain of the long form of tRNase Z is required for the RNase 65 activity. |
| Takaku H, Minagawa A, Takagi M, Nashimoto M |
| Nucleic acids research. 2004 ; 32 (15) : 4429-4438. |
| PMID 15317868 |
| A candidate prostate cancer susceptibility gene at chromosome 17p. |
| Tavtigian SV, Simard J, Teng DH, Abtin V, Baumgard M, Beck A, Camp NJ, Carillo AR, Chen Y, Dayananth P, Desrochers M, Dumont M, Farnham JM, Frank D, Frye C, Ghaffari S, Gupte JS, Hu R, Iliev D, Janecki T, Kort EN, Laity KE, Leavitt A, Leblanc G, McArthur-Morrison J, Pederson A, Penn B, Peterson KT, Reid JE, Richards S, Schroeder M, Smith R, Snyder SC, Swedlund B, Swensen J, Thomas A, Tranchant M, Woodland AM, Labrie F, Skolnick MH, Neuhausen S, Rommens J, Cannon-Albright LA |
| Nature genetics. 2001 ; 27 (2) : 172-180. |
| PMID 11175785 |
| Role of HPC2/ELAC2 in hereditary prostate cancer. |
| Wang L, McDonnell SK, Elkins DA, Slager SL, Christensen E, Marks AF, Cunningham JM, Peterson BJ, Jacobsen SJ, Cerhan JR, Blute ML, Schaid DJ, Thibodeau SN |
| Cancer research. 2001 ; 61 (17) : 6494-6499. |
| PMID 11522646 |
| Citation |
| This paper should be referenced as such : |
| Chen, Y ; Tavtigian, S ; Shattuck, D. ELAC2 (elaC homolog 2 (E |
| coli)) |
| Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):430-431. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/ELAC2ID40437ch17p11.html |
| Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Hereditary prostate cancer |
| 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 : Fri Jun 30 11:05:44 CEST 2017 |
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