| Identity |
| Other names | AF15q14 (ALL1 fused gene from 15q14) |
| KIAA1570 | |
| D40 | |
| HGNC (Hugo) | CASC5 |
| Location | 15q14 |
| Location_base_pair | Starts at 40886446 and ends at 40917784 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| DNA/RNA |
| Note | Whole genomic size is not determined, but consists of at least 10 Exons. |
| Transcription | D40/CASC5 mRNA expression is dominant in normal human testis and slight expression are observed in other organs, such as placenta. At least two alternative isoforms of cDNA were identified. Northern blotting analysis on testis shows two bands with size of approximately 6 and 8.5 kb which are probably derived from the two isoforms. Analysis on cancer cell lines, such as HeLa, gave single band with 8.5 kb. There is another alternative splicing site at the 5¹ side of this gene that generates a short exon with 78 bp in cDNA. There are potential other alternative splicing at cancer cell lines. |
| Protein |
| Description | Encodes 1833 amino acids and 2342 amino acids. |
| Expression | In human testis D40/CASC5 protein expression with molecular weight of approximately 300 kDa and 250 kdDa are observed in germ cell. The significant high expressions are observed in nucleus of spermatocytes and Pre-acrosome of spermatids. As D40/CASC5 protein has no hydrophobic signal peptide in its amino terminal. |
| Localisation | It localizes outer surface of Pre-acrosome membrane. Kitnetochore proteins in C. elegans and yeast have sequence homology to D40 and it was shown that D40 is localized in kinetochore in a human cancer cell line. |
| Implicated in |
| Entity | t(11;15)(q23;q14) < ID: 1199 >/acute non lymphocytic leukemia (ANLL) -->MLL-CASC5 |
| Note | It is reported that MLL gene and D40 (AF15q14) gene are translocated each other in three cases of leukemias. |
| Entity | lung cancer |
| Note | In primary lung cancer, clinicopathological findings correlates with D40 expression. D40 mRNA expression is more frequent in the tumors with low differentiation than the ones with moderate and high differentiation. Further, the tumors derived from smoker express higher incidence of D40 mRNA than the ones from non-smoker. D40 is a member of cancer/testis gene family. |
| External links |
| Bibliography |
| Chromosomal assignment of a novel human gene D40. |
| Wei G, Takimoto M, Yoshida I, Mao PZ, Koya RC, Miura T, Kuzumaki N |
| Nucleic acids symposium series. 1999 : 71-72. |
| PMID 10780384 |
| AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14). |
| Hayette S, Tigaud I, Vanier A, Martel S, Corbo L, Charrin C, Beillard E, Deleage G, Magaud JP, Rimokh R |
| Oncogene. 2000 ; 19 (38) : 4446-4450. |
| PMID 10980622 |
| Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancers of smokers. |
| Takimoto M, Wei G, Dosaka-Akita H, Mao P, Kondo S, Sakuragi N, Chiba I, Miura T, Itoh N, Sasao T, Koya RC, Tsukamoto T, Fujimoto S, Katoh H, Kuzumaki N |
| British journal of cancer. 2002 ; 86 (11) : 1757-1762. |
| PMID 12087463 |
| A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15. |
| Chinwalla V, Chien A, Odero M, Neilly MB, Zeleznik-Le NJ, Rowley JD |
| Oncogene. 2003 ; 22 (9) : 1400-1410. |
| PMID 12618766 |
| Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14). |
| Kuefer MU, Chinwalla V, Zeleznik-Le NJ, Behm FG, Naeve CW, Rakestraw KM, Mukatira ST, Raimondi SC, Morris SW |
| Oncogene. 2003 ; 22 (9) : 1418-1424. |
| PMID 12618768 |
| A conserved protein network controls assembly of the outer kinetochore and its ability to sustain tension. |
| Cheeseman IM, Niessen S, Anderson S, Hyndman F, Yates JR 3rd, Oegema K, Desai A |
| Genes & development. 2004 ; 18 (18) : 2255-2268. |
| PMID 15371340 |
| A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1. |
| Obuse C, Iwasaki O, Kiyomitsu T, Goshima G, Toyoda Y, Yanagida M |
| Nature cell biology. 2004 ; 6 (11) : 1135-1141. |
| PMID 15502821 |
| The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa. |
| Sasao T, Itoh N, Takano H, Watanabe S, Wei G, Tsukamoto T, Kuzumaki N, Takimoto M |
| Reproduction (Cambridge, England). 2004 ; 128 (6) : 709-716. |
| PMID 15579588 |
| Cancer/testis antigens, gametogenesis and cancer. |
| Simpson AJ, Caballero OL, Jungbluth A, Chen YT, Old LJ |
| Nature reviews. Cancer. 2005 ; 5 (8) : 615-625. |
| PMID 16034368 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 03-2000 | Jean-Loup Huret, Christiane Charrin |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France | ||
| Updated | 09-2006 | Masato Takimoto |
| Service d'Hematologie, Hopital Edouard Herriot, Lyon, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL, Charrin C . CASC5 (Cancer Sensitibity Candidate 5). Atlas Genet Cytogenet Oncol Haematol. March 2000 . URL : http://AtlasGeneticsOncology.org/Genes/AF15q14ID318.html |
| Takimoto M . CASC5 (Cancer Sensitibity Candidate 5). Atlas Genet Cytogenet Oncol Haematol. September 2006 . URL : http://AtlasGeneticsOncology.org/Genes/AF15q14ID318.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Aug 31 20:05:42 CEST 2010 |
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