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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Short Communication ERC1 (ELKS/RAB6-interacting/CAST family member 1) Tomoko Nakata, Shiro Minami, Mitsuru Emi Department of Bioregulation, Institute of Gerontology, Nippon Medical School, Kawasaki, Kanagawa, Japan (TN, SM, ME) Published in Atlas Database: January 2004 Online updated version: http://AtlasGeneticsOncology.org/Genes/ELKSID503.html DOI: 10.4267/2042/38061 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2004 Atlas of Genetics and Cytogenetics in Oncology and Haematology Homology Identity CAST or ERC2. Other names: ELKS; rab6-interacting protein 2, ERC1 HGNC (Hugo): ERC1 Location: 12p13.3 Implicated in 9.0 Kb and other smaller mRNAs; alternative splicing: at least 5 isoforms (a, b, g, d, e). 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. Protein Breakpoints Description Note Intron 10 of ELKS and intron 11 of the RET. DNA/RNA Description At least 21 exons. 500 Kb. Transcription 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. References Kitamura Y, Minobe K, Nakata T, Shimizu K, Tanaka S, Fujimori M, Yokoyama S, Ito K, Onda M, Emi M. Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan. J Hum Genet. 1999;44(2):96-102 Nakata T, Kitamura Y, Shimizu K, Tanaka Yokoyama S, Ito K, Emi M. Fusion of a novel RET due to translocation t(10;12)(q11;p13) thyroid carcinoma. Genes Chromosomes Jun;25(2):97-103 Yokota T, Nakata T, Minami S, Inazawa J, Emi M. Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma. J Hum Genet. 2000;45(1):6-11 Expression Ubiquitous, a and b are abundant in the brain. d and e predominate in the testis, thyroid and other tissues. Monier S, Jollivet F, Janoueix-Lerosey I, Johannes L, Goud B. Characterization of novel Rab6-interacting proteins involved in endosome-to-TGN transport. Traffic. 2002 Apr;3(4):289-97 Function Unknown. Atlas Genet Cytogenet Oncol Haematol. 2004; 8(2) S, Fujimori M, gene, ELKS, to in a papillary Cancer. 1999 63 ERC1 (ELKS/RAB6-interacting/CAST family member 1) Nakata T et al. Nakata T, Yokota T, Emi M, Minami S. Differential expression of multiple isoforms of the ELKS mRNAs involved in a papillary thyroid carcinoma. Genes Chromosomes Cancer. 2002 Sep;35(1):30-7 Ko J, Na M, Kim S, Lee JR, Kim E. Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins. J Biol Chem. 2003 Oct 24;278(43):42377-85 Wang Y, Liu X, Biederer T, Südhof TC. A family of RIM-binding proteins regulated by alternative splicing: Implications for the genesis of synaptic active zones. Proc Natl Acad Sci U S A. 2002 Oct 29;99(22):14464-9 This article should be referenced as such: Atlas Genet Cytogenet Oncol Haematol. 2004; 8(2) Nakata T, Minami S, Emi M. ERC1 (ELKS/RAB6interacting/CAST family member 1). Atlas Genet Cytogenet Oncol Haematol. 2004; 8(2):63-64. 64