Gene Section Review Atlas Genet Cytogenet Oncol Haematol. 2008;12(3) 190 Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS AIFM1 (apoptosis-inducing factor, mitochondrion- associated, 1) Victor J Yuste, Hans K Lorenzo, Santos A Susin Cell Death, Senescence and Survival Research Group, Institut de Neurociencies, Universitat Autonoma de Barcelona, Edifici M, Campus de Bellaterra, 08193 Bellaterra Cerdanyola del Valles, Spain (VJY); University of Paris XI, School of Medicine, Hospital Paul Brousse, INSERM U542, 14, av. Paul Vaillant Couturier, 94807 Villejuif, France (HKL); Apoptosis and Immune System, Institut Pasteur, URA 1961- CNRS, 25, rue du Dr. Roux, 75724 Paris Cedex 15, France (SAS) Published in Atlas Database: October 2007 Online updated version: http://AtlasGeneticsOncology.org/Genes/AIFM1ID44053chXq25.html DOI: 10.4267/2042/38516 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 2008 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity Hugo: AIFM1 Other names: AIF; PDCD8; MGC111425 Location: Xq25 Local order: Centromere (59,500 Kbp)- ARHGEF9 - (…) - RAB33A - AIFM1 - ELF4 - (…) - IL9R - telomere (154,914 Kbp). AIF gene structure and known isoforms. Genomic organization of AIF and resulting AIF, AIF-exB, AIFsh, AIFsh2, and AIFsh3 mRNA transcripts (schemas in the left). Translation start (ATG, in green) and stop (TGA/TAA, in red) codons are indicated, and the predicted protein product is shown at the right. Numbers in AIF designate exons (in mRNA transcripts) and amino acids (in the predicted proteins). Mitochondria localization signal (MLS), Pyridoxin-redox (Pyr-Redox), nuclear localization sequence (NLS), and C-terminal domains are indicated. I9 (in green) indicates intron 9. The inclusion of the 203-bp exon 9b (lettering in red) produces AIFsh2 and AIFsh3, which encodes 324- and 237-amino acid proteins, respectively. AIFsh2 contains the MLS and the Pyr-Redox domain, but lacks the C-terminal portion of AIF. AIFsh3 has a similar structure as AIFsh2 with the splicing of exon 2, leading to the loss of MLS. Blue lines indicate the splicing of the different isoforms.