SMARCB1 (SW1/SNF related, matrix associated, actin dependent regulator of chromatin B1)
1999-03-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
22q11.23
LOCUSID
ALIAS
BAF47,CSS3,INI1,MRD15,PPP1R144,RDT,RTPS1,SNF5,SNF5L1,SWNTS1,Sfh1p,Snr1,hSNFS
FUSION GENES
DNA/RNA
Description
spans over 50 kb; 9 exons
Transcription
alternative splicing including/excluding exon 2
Proteins
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 name
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 gene
no hybrid gene but inactivation of both alleles
Entity name
Hybrid 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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9892189 | 1999 | Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. | Biegel JA et al |
| 6861072 | 1983 | Paravertebral malignant rhabdoid tumor in infancy. In vitro studies of a familial tumor. | Lynch HT et al |
| 9448295 | 1998 | Structure-function analysis of integrase interactor 1/hSNF5L1 reveals differential properties of two repeat motifs present in the highly conserved region. | Morozov A et al |
| 9128241 | 1997 | Components of the human SWI/SNF complex are enriched in active chromatin and are associated with the nuclear matrix. | Reyes JC et al |
| 9491318 | 1998 | 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 et al |
| 9671307 | 1998 | Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. | Versteege I et al |
| 2543225 | 1989 | Rhabdoid tumor of kidney. A report of 111 cases from the National Wilms' Tumor Study Pathology Center. | Weeks DA et al |
| 8545590 | 1995 | Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion. | Wick MR et al |
Other Information
Locus ID:
NCBI: 6598
MIM: 601607
HGNC: 11103
Ensembl: ENSG00000099956
Variants:
dbSNP: 6598
ClinVar: 6598
TCGA: ENSG00000099956
COSMIC: SMARCB1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Chromatin organization | REACTOME | R-HSA-4839726 |
| Chromatin modifying enzymes | REACTOME | R-HSA-3247509 |
| RMTs methylate histone arginines | REACTOME | R-HSA-3214858 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37548271 | 2024 | Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome. | 0 |
| 38039617 | 2024 | SMARCB1/INI1-deficient epithelioid and myxoid neoplasms in paratesticular region: Expanding the clinicopathologic and molecular spectrum. | 0 |
| 38088461 | 2024 | SMARCB1 (INI1)-deficient sinonasal carcinoma manifesting as oral lesions: A report of two cases. | 1 |
| 38355560 | 2024 | The IL6/JAK/STAT3 signaling axis is a therapeutic vulnerability in SMARCB1-deficient bladder cancer. | 0 |
| 38538798 | 2024 | Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF. | 1 |
| 38639853 | 2024 | Central nervous system embryonal tumors with EWSR1-PLAGL1 rearrangements reclassified as INI-1 deficient tumors at relapse. | 0 |
| 37548271 | 2024 | Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome. | 0 |
| 38039617 | 2024 | SMARCB1/INI1-deficient epithelioid and myxoid neoplasms in paratesticular region: Expanding the clinicopathologic and molecular spectrum. | 0 |
| 38088461 | 2024 | SMARCB1 (INI1)-deficient sinonasal carcinoma manifesting as oral lesions: A report of two cases. | 1 |
| 38355560 | 2024 | The IL6/JAK/STAT3 signaling axis is a therapeutic vulnerability in SMARCB1-deficient bladder cancer. | 0 |
| 38538798 | 2024 | Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF. | 1 |
| 38639853 | 2024 | Central nervous system embryonal tumors with EWSR1-PLAGL1 rearrangements reclassified as INI-1 deficient tumors at relapse. | 0 |
| 36656230 | 2023 | SMARCB1 deficient sinonasal carcinoma: An emerging entity with a diagnostic challenge. | 0 |
| 36657718 | 2023 | SMARCB1 Loss in Poorly Differentiated Chordomas Drives Tumor Progression. | 3 |
| 37186844 | 2023 | SMARCB1 regulates the hypoxic stress response in sickle cell trait. | 6 |
Citation
Jean-Loup Huret
SMARCB1 (SW1/SNF related, matrix associated, actin dependent regulator of chromatin B1)
Atlas Genet Cytogenet Oncol Haematol. 1999-03-01
Online version: http://atlasgeneticsoncology.org/gene/169/smarcb1
