Gene Section Mini Review Atlas Genet Cytogenet Oncol Haematol. 2007;11(3) 165 Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS INTS6 (integrator complex subunit 6) Ilse Wieland Institut für Humangenetik, Otto-von-Guericke-Universität, Leipziger Str. 44, 39120 Magdeburg, Germany Published in Atlas Database: November 2006 Online updated version: http://AtlasGeneticsOncology.org/Genes/INTS6ID40287ch13q14.html DOI: 10.4267/2042/38428 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 2007 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity Hugo: INTS6 Other names: DICE1; deleted in cancer 1; DBI-1; DDX26; INT6 Location: 13q14.3 DNA/RNA Description The DICE1 gene consists of 18 exons and contains a GpC-rich promoter. Transcription A major transcript of 4.4 kb and a minor transcript of 6.9 kb was detected in fetal and adult tissues. In adult heart, brain and skeletal muscle an additional smaller transcript of 4 kb has been detected by Northern blot analysis. The DICE1 cDNA consists of 3665 bp with a coding sequence of 2661 bp; an alternatively spliced variant generated by skipping of exon 3 has been detected specifically in brain. Pseudogene Presumably LOC285634 at 5p13.1. Protein Description For the DICE1 protein 887 amino acids were predicted. A protein of approximately 100 kDaltons was detected by coupled in vitro transcription and translation. The Int6 protein was purified as an approximately 110 kDaltons polypeptide component of a nuclear Integrator complex. Localisation Mainly nuclear localisation. Function Predicted motifs of DICE1 protein were a von willebrand factor a (VWFA) domain of nuclear proteins, nuclear sorting signals and a DEAD box of ATP-dependent helicases. Ectopic expression of DICE1 cDNA in tumour cells suppresses colony formation and in cell culture. The Int6 protein was purified as a subunit of a RNA polymerase II multiprotein complex with roles in transcriptional regulation and RNA processing. Homology Weak homology to members of the helicase superfamily II. Mutations Note: Mutations in the coding sequence of DICE1/DDX26 have been infrequently detected in tumour cells. Somatic Frequent loss of heterozygosity (LOH) has been observed in lung, esophageal and prostate carcinomas. Promoter hypermethylation concomitant with reduced mRNA expression has been observed in lung and prostate carcinomas. In esophageal squamous cell carcinomas missense mutations V431I, R658Q have been detected. In prostate cancer cell line LNCaP missense mutation D546G has been described.