| Identity |
| Other names | NSD3 (Nuclear receptor-binding, su(var), enhancer-of-zeste and trithorax domain-containing protein 3). |
| HGNC (Hugo) | WHSC1L1 |
| Location | 8p11.2 |
| Location_base_pair | Starts at 38293092 and ends at 38358947 bp from pter ( according to hg18-Mar_2006) [Mapping] |
| Local_order | WHSC1L1/NSD3 is 30 kb more telomeric than FGFR1 . |
| DNA/RNA |
| Description | The gene spans 127 kb on minus strand. |
| Transcription | 2 major transcripts: a short transcript ending after an alternative exon 10b (3995 bp), and a long form from exon 1 to 24 (5428 bp). |
| Protein |
| Description | The long transcript encodes a 1437 aminonacids protein (162 kDa) containing from N-term to C-term: a PWWP (proline-tryptophan-tryptophan-proline) domain, 4 PHD (plant-home domain)- type zinc finger motifs, a second PWWP domain, a SET associated cystein rich domain (SAC), a SET domain, a fifth PHD,and a Cys-His rich domain. The short transcript encodes a 645 amino acids protein (73 kDa) containing only the N-term t PWWP domain. |
| Expression | wide. |
| Localisation | putative nuclear location. |
| Function | may have a regulatory role. |
| Homology | NSD1, WHSC1/NSD2 . |
| Mutations |
| Somatic | a hybrid gene involving WHSC1L1/NSD3 was found in a rare leukemia subtype (see below); amplification of a region containing WHSC1L1/NSD3 was found in a subset of breast cancers (but it remains to be determined which gene, within an amplicon, is the critical gene). |
| Implicated in |
| Entity | t(8;11)(p11;p15) Acute non lymphocytic leukemia with WHSC1L1/NSD3 - NUP98 . |
| Prognosis | yet unknown: only 1 case with a proven hybrid gene 5' NUP98 - 3' NSD3; 2 other possible cases, but other genes may also be involved. |
| To be noted |
| This region in 8p11.2 seems to be derived from a duplication of 4p16.3 with similar genes WHSC1L1, FGFR1, and TACC1 in 8p11 from pter, and TACC3, FGFR3, and WHSC1 in 4p16 from pter |
| External links |
| Bibliography |
| NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines. |
| Angrand PO, Apiou F, Stewart AF, Dutrillaux B, Losson R, Chambon P |
| Genomics. 2001 ; 74 (1) : 79-88. |
| PMID 11374904 |
| WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3. |
| Stec I, van Ommen GJ, den Dunnen JT |
| Genomics. 2001 ; 76 (1-3) : 5-8. |
| PMID 11549311 |
| NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). |
| Rosati R, La Starza R, Veronese A, Aventin A, Schwienbacher C, Vallespi T, Negrini M, Martelli MF, Mecucci C |
| Blood. 2002 ; 99 (10) : 3857-3860. |
| PMID 11986249 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 03-2005 | Jean Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . WHSC1L1 (Wolf-Hirschhorn syndrome candidate 1 like gene 1). Atlas Genet Cytogenet Oncol Haematol. March 2005 . URL : http://AtlasGeneticsOncology.org/Genes/WHSC1L1NSD3ID42810ch8p11.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 27 10:54:52 CET 2010 |
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