| Identity |
| Other names | rab6-interacting protein 2, ERC1 |
| HGNC (Hugo) | ERC1 |
| Location | 12p13.3 |
| Location_base_pair | Starts at 970665 and ends at 1472958 bp from pter ( according to hg18-Mar_2006) [Mapping] |
| DNA/RNA |
| Description | at least 21 exons. 500 Kb |
| Transcription | 9.0 Kb and other smaller mRNAs ; alternative splicing: at least 5 isoforms (a, b, g, d, e) |
| Protein |
| Description | a : 948 amino acids, b: 992 amino acids, g: 720 amino acids, d:1088 amino acids, e:1116 amino acids, containing eight to ten coiled-coil domains. Rich in glutamic acid (E), leucine (L), lysine (K) and serine (S). Mouse homolog of ELKS a subtype binds to RIM (Rab3-interacting molecule) which is presynaptic active zone protein and regulates neurotransmitter release. Mouse homologs of ELKS bind to rab6 which regulate intracellular transport. |
| Expression | Ubiquitous, a and b are abundant in the brain. d and e predominate in the testis, thyroid and other tissues. |
| Function | unknown |
| Homology | CAST or ERC2 |
| Implicated in |
| Disease | papillary thyroid carcinoma |
| Hybrid/Mutated Gene | 5' ELKS-3' RET in the t(10;12)(q11;p13) |
| Abnormal Protein | ELKS-RET |
| Oncogenesis | constitutive activation of RET |
| Breakpoints |
| Note | Intron 10 of ELKS and intron 11 of the RET. |
| External links |
| Bibliography |
| Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan. |
| Kitamura Y, Minobe K, Nakata T, Shimizu K, Tanaka S, Fujimori M, Yokoyama S, Ito K, Onda M, Emi M |
| Journal of human genetics. 1999 ; 44 (2) : 96-102. |
| PMID 10083732 |
| Fusion of a novel gene, ELKS, to RET due to translocation t(10;12)(q11;p13) in a papillary thyroid carcinoma. |
| Nakata T, Kitamura Y, Shimizu K, Tanaka S, Fujimori M, Yokoyama S, Ito K, Emi M |
| Genes, chromosomes & cancer. 1999 ; 25 (2) : 97-103. |
| PMID 10337992 |
| Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma. |
| Yokota T, Nakata T, Minami S, Inazawa J, Emi M |
| Journal of human genetics. 2000 ; 45 (1) : 6-11. |
| PMID 10697956 |
| Differential expression of multiple isoforms of the ELKS mRNAs involved in a papillary thyroid carcinoma. |
| Nakata T, Yokota T, Emi M, Minami S |
| Genes, chromosomes & cancer. 2002 ; 35 (1) : 30-37. |
| PMID 12203787 |
| A family of RIM-binding proteins regulated by alternative splicing: Implications for the genesis of synaptic active zones. |
| Wang Y, Liu X, Biederer T, Sˆºdhof TC |
| Proceedings of the National Academy of Sciences of the United States of America. 2002 ; 99 (22) : 14464-14469. |
| PMID 12391317 |
| Characterization of novel Rab6-interacting proteins involved in endosome-to-TGN transport. |
| Monier S, Jollivet F, Janoueix-Lerosey I, Johannes L, Goud B |
| Traffic (Copenhagen, Denmark). 2002 ; 3 (4) : 289-297. |
| PMID 11929610 |
| Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins. |
| Ko J, Na M, Kim S, Lee JR, Kim E |
| The Journal of biological chemistry. 2003 ; 278 (43) : 42377-42385. |
| PMID 12923177 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 01-2004 | Tomoko Nakata, Shiro Minami, Mitsuru Emi |
| Department of Bioregulation, Institute of Gerontology, Nippon Medical School, Kawasaki, Kanagawa, Japan |
| Citation |
| This paper should be referenced as such : |
| Nakata T, Minami S, Emi M . ELKS. Atlas Genet Cytogenet Oncol Haematol. January 2004 . URL : http://AtlasGeneticsOncology.org/Genes/ELKSID503.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Jun 27 16:38:07 CEST 2009 |
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