| Identity |
| Other names | hSNF5 |
| SNF5L1 | |
| INI1 (integrase interactor 1) | |
| BAF47 (BRG1-associated factor) | |
| HGNC (Hugo) | SMARCB1 |
| LocusID (NCBI) | 6598 |
| Location | 22q11.23 |
| Location_base_pair | Starts at 24129150 and ends at 24176705 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| Local_order | distal to BCR |
| DNA/RNA |
| Description | spans over 50 kb; 9 exons |
| Transcription | alternative splicing including/excluding exon 2 |
| Protein |
| Description | 385 amino acids; 47 kDa ; a DNA binding domain and 2 repeat motifs |
| Localisation | nucleus; associated with the chromatin and with the nuclear matrix |
| Function | binds and activates human immunodeficiency virus integrase; member of the SWI/SNF complex, thought to facilitate the transcriptional activation of inducible genes through the remodelling of the chromatin; could be involved in the chromatin organization associated with the nuclear matrix attachment; could also have a role in the cell cycle control, through binding to P105-Rb |
| Homology | with SNF5 (yeast transcription factor) |
| Mutations |
| Germinal | found in the rhabdoid tumor predisposition syndrome |
| Somatic | mutation and allele loss events in sporadic rhabdoid tumors are consistent with the two-hit model of Knutson; deletion of the entire gene on one allele (sometimes due to translocations involving 22q11), and mutation (frameshift mutations, widely dispersed through the entire gene and leading to stop codons) on the other allele |
| Implicated in |
| Entity | rhabdoid tumor |
| Disease | tumor of uncertain origin, occuring in early childhood |
| Prognosis | highly aggressive; 80% mortality rate |
| Cytogenetics | normal karyotype or t(Var; 22)(-;q11.2) |
| Hybrid/Mutated Gene | no hybrid gene but inactivation of both alleles |
| Entity | rhabdoid tumor predisposition syndrome |
| Hybrid/Mutated Gene | germline mutation on one allele, predisposing to a rabdoid tumor (and perhaps to tumors of the central nervous system) when the other allele is also inactivated |
| External links |
| Bibliography |
| Paravertebral malignant rhabdoid tumor in infancy. In vitro studies of a familial tumor. |
| Lynch HT, Shurin SB, Dahms BB, Izant RJ Jr, Lynch J, Danes BS |
| Cancer. 1983 ; 52 (2) : 290-296. |
| PMID 6861072 |
| Rhabdoid tumor of kidney. A report of 111 cases from the National Wilms' Tumor Study Pathology Center. |
| Weeks DA, Beckwith JB, Mierau GW, Luckey DW |
| The American journal of surgical pathology. 1989 ; 13 (6) : 439-458. |
| PMID 2543225 |
| Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion. |
| Wick MR, Ritter JH, Dehner LP |
| Seminars in diagnostic pathology. 1995 ; 12 (3) : 233-248. |
| PMID 8545590 |
| Components of the human SWI/SNF complex are enriched in active chromatin and are associated with the nuclear matrix. |
| Reyes JC, Muchardt C, Yaniv M |
| The Journal of cell biology. 1997 ; 137 (2) : 263-274. |
| PMID 9128241 |
| Structure-function analysis of integrase interactor 1/hSNF5L1 reveals differential properties of two repeat motifs present in the highly conserved region. |
| Morozov A, Yung E, Kalpana GV |
| Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (3) : 1120-1125. |
| PMID 9448295 |
| Cytogenetic and molecular analysis of a t(1;22)(p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22. |
| Rosty C, Peter M, Zucman J, Validire P, Delattre O, Aurias A |
| Genes, chromosomes & cancer. 1998 ; 21 (2) : 82-89. |
| PMID 9491318 |
| Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. |
| Versteege I, Sˆ©venet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O |
| Nature. 1998 ; 394 (6689) : 203-206. |
| PMID 9671307 |
| Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. |
| Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B |
| Cancer research. 1999 ; 59 (1) : 74-79. |
| PMID 9892189 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 03-1999 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . SMARCB1 (SW1/SNF related, matrix associated, actin dependent regulator of chromatin B1). Atlas Genet Cytogenet Oncol Haematol. March 1999 . |
| URL : http://AtlasGeneticsOncology.org/Genes/SMARCB1ID169.html |
The various updated versions of this paper are referenced and archived by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/37507/1/03-1999-SMARCB1ID169.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Apr 18 17:38:21 CEST 2014 |
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