SMARCB1 (SW1/SNF related, matrix associated, actin dependent regulator of chromatin B1)

1999-03-01   Jean-Loup Huret  

Genetics, 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
rhabdoid tumor predisposition syndrome
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 IDLast YearTitleAuthors

Other Information

Locus ID:

NCBI: 6598
MIM: 601607
HGNC: 11103
Ensembl: ENSG00000099956

Variants:

dbSNP: 6598
ClinVar: 6598
TCGA: ENSG00000099956
COSMIC: SMARCB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099956ENST00000263121A0A0G2JRV3
ENSG00000099956ENST00000344921G5E975
ENSG00000099956ENST00000407082B5MCL5
ENSG00000099956ENST00000407422Q12824
ENSG00000099956ENST00000417137C9JTA6
ENSG00000099956ENST00000634926A0A0U1RRB8
ENSG00000099956ENST00000635578A0A0U1RQQ2
ENSG00000099956ENST00000642727A0A2R8Y5Z2
ENSG00000099956ENST00000644036Q12824
ENSG00000099956ENST00000644462A0A2R8YEE8
ENSG00000099956ENST00000644619A0A2R8Y5N5
ENSG00000099956ENST00000647057A0A2R8YDN6

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
RMTs methylate histone argininesREACTOMER-HSA-3214858

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
375482712024Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.0
380396172024SMARCB1/INI1-deficient epithelioid and myxoid neoplasms in paratesticular region: Expanding the clinicopathologic and molecular spectrum.0
380884612024SMARCB1 (INI1)-deficient sinonasal carcinoma manifesting as oral lesions: A report of two cases.1
383555602024The IL6/JAK/STAT3 signaling axis is a therapeutic vulnerability in SMARCB1-deficient bladder cancer.0
385387982024Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF.1
386398532024Central nervous system embryonal tumors with EWSR1-PLAGL1 rearrangements reclassified as INI-1 deficient tumors at relapse.0
375482712024Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.0
380396172024SMARCB1/INI1-deficient epithelioid and myxoid neoplasms in paratesticular region: Expanding the clinicopathologic and molecular spectrum.0
380884612024SMARCB1 (INI1)-deficient sinonasal carcinoma manifesting as oral lesions: A report of two cases.1
383555602024The IL6/JAK/STAT3 signaling axis is a therapeutic vulnerability in SMARCB1-deficient bladder cancer.0
385387982024Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF.1
386398532024Central nervous system embryonal tumors with EWSR1-PLAGL1 rearrangements reclassified as INI-1 deficient tumors at relapse.0
366562302023SMARCB1 deficient sinonasal carcinoma: An emerging entity with a diagnostic challenge.0
366577182023SMARCB1 Loss in Poorly Differentiated Chordomas Drives Tumor Progression.3
371868442023SMARCB1 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/tumors-explorer/js/welcome