| Identity |
| Other names | CREST |
| KIAA0693 | |
| MGC26711 | |
| SYT homolog 1 | |
| HGNC (Hugo) | SS18L1 |
| Location | 20q13.3 |
| Location_base_pair | Starts at 60152217 and ends at 60190961 bp from pter ( according to hg18-Mar_2006) [Mapping] |
| Local_order | chr20:60,152,245-60,190,935 (UCSC latest release: May 2004) |
| DNA/RNA |
| Note | Member of the SS18 family. |
| Description | 11 exons with similar splice sites as SS18.The promoter region lacks CAAT and TATA boxes but contains CpG islands, suggesting that SS18L1 is a housekeeping gene. |
| Pseudogene | SS18L2 (3p21) |
| Protein |
| Description | 396 amino acids, 42990 Da. The SS18L1 protein, similarly to the SS18 protein, exhibits two domains: a SYT N-terminal homology domain found in a wide variety of species ranging from plants to humans and the QPGY domain at the COOH-terminal part, rich in glutamine, proline, glycine, and tyrosine. The QPGY domain of the SS18 protein may activate transcription when coupled to a DNA-binding domain. |
| Expression | Ubiquitous; with lowest levels in spleen. |
| Localisation | Nuclear? |
| Function | Calcium-responsive transactivator: CREST is a SYT -related nuclear protein that interacts with CREB-binding protein (CBP) and is expressed in the developing brain. |
| Homology | SS18, SS18L2 |
| Implicated in |
| Disease | Synovial sarcoma |
| Prognosis | Unknown |
| Cytogenetics | t(X;20)(p11;q13.3) |
| Hybrid/Mutated Gene | In the SS18L1/ SSX1 transcript detected in the synovial sarcoma, the exon 10 of SS18L1, which corresponds to exon 10 of SS18, was fused to exon 6 of SSX1 |
| Abnormal Protein | In the putative SS18L1/SSX1 chimeric protein, the last 8 amino acid residues of the SS18L1 protein are replaced by 78 amino acids from the COOH-terminal part of SSX1. By analogy with what is presumed to be the case for the SS18/SSX fusion protein, SS18L1/SSX1 is likely to show an altered transcriptional pattern with the COOH-terminal SSX domain, redirecting the SS18L1 activation domain to new target promoters. |
| External links |
| Bibliography |
| Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. |
| Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O |
| DNA research : an international journal for rapid publication of reports on genes and genomes. 1998 ; 5 (3) : 169-176. |
| PMID 9734811 |
| Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene. |
| de Bruijn DR, Kater-Baats E, Eleveld M, Merkx G, Geurts Van Kessel A |
| Cytogenetics and cell genetics. 2001 ; 92 (3-4) : 310-319. |
| PMID 11435705 |
| Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |
| Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Mammalian Gene Collection Program Team, Marra MA |
| Proceedings of the National Academy of Sciences of the United States of America. 2002 ; 99 (26) : 16899-16903. |
| PMID 12477932 |
| A novel fusion gene, SS18L1/SSX1, in synovial sarcoma. |
| Storlazzi CT, Mertens F, Mandahl N, Gisselsson D, Isaksson M, Gustafson P, Domanski HA, Panagopoulos I |
| Genes, chromosomes & cancer. 2003 ; 37 (2) : 195-200. |
| PMID 12696068 |
| Dendrite development regulated by CREST, a calcium-regulated transcriptional activator. |
| Aizawa H, Hu SC, Bobb K, Balakrishnan K, Ince G, Gurevich I, Cowan M, Ghosh A |
| Science (New York, N.Y.). 2004 ; 303 (5655) : 197-202. |
| PMID 14716005 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 03-2005 | Clelia Tiziana Storlazzi, Fredrik Mertens, Ioannis Panagopoulos |
| Citation |
| This paper should be referenced as such : |
| Storlazzi CT, Mertens F, Panagopoulos I . SS18L1 (synovial sarcoma translocation gene on chromosome 18-like 1). Atlas Genet Cytogenet Oncol Haematol. March 2005 . URL : http://AtlasGeneticsOncology.org/Genes/SS18L1ID474ch20q13.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 27 10:50:11 CET 2010 |
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