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Atlas Journal Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal Teaching X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Atlas Journal Atlas Journal versus Atlas Database: the accumulation of the issues of the Journal constitutes the body of the Database/Text-Book. TABLE OF CONTENTS Volume 12, Number 5, Sep-Oct 2008 Previous Issue / Next Issue Genes XAF1 (XIAP associated factor-1) (17p13.2). Stéphanie Plenchette, Wai Gin Fong, Robert G Korneluk. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 668-673. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/XAF1ID44095ch17p13.html WWP1 (WW domain containing E3 ubiquitin protein ligase 1) (8q21.3). Ceshi Chen. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 674-680. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/WWP1ID42993ch8q21.html TSPAN1 (tetraspanin 1) (1p34.1). David Murray, Peter Doran. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 681-683. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/TSPAN1ID44178ch1p34.html TCL1B (T-cell leukemia/lymphoma 1B) (14q32.13). Herbert Eradat, Michael A Teitell. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 684-686. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/TCL1BID354ch14q32.html PVRL4 (poliovirus receptor-related 4) (1q23.3). Marc Lopez. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 687-690. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/PVRL4ID44141ch1q23.html PTTG1IP (pituitary tumor-transforming 1 interacting protein) (21q22.3). Vicki Smith, Chris McCabe. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 691-694. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/PTTG1IPID41944ch21q22.html PLAGL2 (Pleomorphic adenoma gene-like 2) (20q11.21). Abbas Abdollahi. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 695-700. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/PLAGL2ID41738ch20q11.html PDCD6 (programmed cell death 6) (5p15.33). Martin W Berchtold. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 701-706. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/PDCD6ID43402ch5p15.html P2RX7 (purinergic receptor P2X, ligand-gated ion channel, 7) (12q24.31). Pablo Pelegrin, Annmarie Surprenant. Atlas Genet Cytogenet Oncol Haematol 2008; 5 I Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 707-712. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/P2RX7ID41623ch12q24.html NKX2-2 (NK2 homeobox 2) (20p11.22). Stephen L Lessnick, Leah A Owen. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 713-717. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/NKX22ID44177ch20p11.html MIB2 (mindbomb homolog 2 (Drosophila)) (1p36.33). Tamotsu Takeuchi. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 718-721. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/MIB2ID44179ch1p36.html KCNH1 (potassium voltage-gated channel, subfamily H (eag-related), member 1) (1q32.2). Luis A Pardo. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 722-727. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/KCNH1ID41048ch1q32.html IRF1 (interferon regulatory factor 1) (5q23.3). Patricia Palladinetti, Geoff Symonds, Alla Dolnikov. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 728-735. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/IRF1ID40990ch5q23.html EGLN1 (egl nine homolog 1 (C. elegans)) (1q42.2). Terhi Jokilehto, Panu M Jaakkola. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 736-740. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/EGLN1ID44140ch1q42.html CDC6 (cell division cycle 6 homolog (S. cerevisiae)) (17q21.3). Michael Zachariadis, Vassilis G Gorgoulis. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 741-748. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/CDC6ID40014ch17q21.html AR (Androgen Receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)) (Xq12). Jason D'Antonio. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 749-755. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/ARID685chXq12.html Leukaemias t(4;17)(q12;q21) . ArJan BuiJs, Marrie Bruin. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 756-758. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/t0417q12q21ID1470.html t(2;13)(p16;q12). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 759-760. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/t0213p16q12ID1212.html t(2;11)(q37;q23) in AML. Cecília Correia, Manuel R Teixeira. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 761-764. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/t0211q37q23ANLLID1457.html t(1;21)(q21;q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 765. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/t0121q21q22ID1446.html t(1;21)(p35;q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 766. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/t0121p35q22ID1447.html Solid Tumours Atlas Genet Cytogenet Oncol Haematol 2008; 5 II Digestive organs: Liver: Combined hepatocellular and cholangiocarcinoma. Munechika EnJoJi, Shinichi Aishima. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 767-771. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Tumors/HepatoCholangioCarcID5331.html Cancer Prone Diseases Holoprosencephaly-Diencephalic Hamartoblastoma (HDH). Marco Castori, Paola Grammatico. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 772-775. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Kprones/HoloDienHamartoID10142.html Congenital Myofibromatosis. Dina J Zand, Elaine H Zackai. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 776-778. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Kprones/CongMyofibromID10137.html Deep Insights Case Reports Translocation t(7;9)(q34;q32) found in pediatric T-cell Acute Lymphoblastic Leukemia. Jennifer JS Laffin, Randee J Blumer, Sara J Morrison-Delap, Elizabeth A Rauch, Eric B Johnson, Carol A Diamond, Kate J Thompson, Gordana Raca, Karen D Montgomery, Daniel F Kurtycz. Atlas Genet Cytogenet Oncol Haematol 2008; 12 (5): 779-780. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Reports/0709LaffinID100032.html Educational Items © Atlas of Genetics and Cytogenetics in Oncology and Haematology X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal Teaching For comments and suggestions or contributions, please contact us [email protected]. Atlas Genet Cytogenet Oncol Haematol 2008; 5 III Atlas of Genetics and Cytogenetics in Oncology and Haematology XAF1 (XIAP associated factor-1) Identity Other names HSXIAPAF1 BIRC4BP HGNC XAF1 Location 17p13.2 Location_base_pair Starts at 6599880 and ends at 6619688 bp from pter ( according to hg18- Mar_2006). Local_order Telomeric to TP53 gene (17p13.1) Note XAF1 not approved by the HUGO Gene Nomenclature Committee (HGNC). DNA/RNA Schematic diagram of the XAF1 gene comprising 8 exons (in grey) and transcript variants. The sizes in base pairs (bp) of exons (above) and introns (below) are shown. (*) indicates the positions of the stop codons. Description The XAF1 gene exists as a single copy in the human genome; it contains 8 exons and was predicted to span over approximately 18 kb of the genomic DNA. Transcription Five isoforms of XAF1 cDNA have been identified and are expressed in a cell and tissue type specific-manner: The original XAF1, also called XAF1(A) (CDS: 906nt) The XAF1(B) isoform (CDS: 849nt); lacks exon 3 The XAF1(C) isoform (CDS: 495nt); contains exon 4b and a new stop codon The XAF1(D) isoform (CDS: 426nt); lacks exons 4b and 5 (new stop codon in exon 6) The XAF1(E) isoform (CDS: 369nt); lacks exons 3, 4b and 5 (new stop codon in exon 6) With Northern blot analysis, at least four distinct transcripts sizes have been identified in Homo sapiens (3.9 kb, 4.5 kb, 6.0 kb and 7.0 kb). How these mRNA species relate to isoform variants is not known. Pseudogene Not known Protein Description The full length XAF1 protein consists of 301 amino acids corresponding to a molecular weight of 33.411 kDa. The protein contains seven zinc fingers domains. The XAF1(B) isoform is predicted to lack the third N-terminal zinc finger of the previously described XAF1. The XAF1(C) is predicted to contain the first five amino-terminal zinc finger domains of the previously described XAF1 and also a unique 24 aa carboxy terminus. Atlas Genet Cytogenet Oncol Haematol 2008; 5 668 There is no evidence for XAF1 isoforms (C), (D) and (E) expression at the protein level. Expression Normal tissue: ubiquitous and differential expression in normal tissues; highest in heart and ovary and lowest in brain and testis at mRNA levels. The XAF1 protein also displays differential protein expression profile within normal cell or tissue development including placenta and motoneurons. Cancer: as opposed to normal cells, XAF1 is found either low or undetectable in tumor cell lines at both mRNA and protein levels. Expression varies also widely among different tumor cell lines. High levels of XAF1 protein were found in glioblastoma cells (SF-539) and ovarian cells (OVCAR-5). Detectable levels were found also in various gastric and colon cancer cell lines and also myeloma cells (U266). Localisation Nuclear and cytoplasmic
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