SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
function summary
a core subunit of SWI/SNF ATP-dependent chromatin-remodeling complexes [Pubmed]
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role in cancer | TSG, fusion |
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senescence | overexpression in a protein expression-deficient cell line increases senescence-associated beta-galactosidase activity in renal malignant rhabdoid tumour G-401 cell line [Pubmed] |
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global regulation of gene expression | induced stable expression in a protein expression-deficient cell line alters the expression of 482 genes over a 10-day time course in extrarenal malignant rhabdoid tumour MON cell line [Pubmed] |
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cell division control | expression in an expression-deficient cell line causes arrest in cell cycle G0-G1 due to HDAC-dependent repression of CCND1 transcription in extrarenal malignant rhabdoid tumour MON cell line [Pubmed]; overexpression in a protein expression-deficient cell line increases the % of cells in phase G1 of the cell cycle in epithelioid sarcoma VA-ES-BJ cell line [Pubmed] |
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differentiation and development | mouse embryos homozygous for a null allele die between post-coitum days 3.5 and 6.5 [Pubmed]; KD prior to neural progenitor cell differentiation leads to decreased neuron differentiation and maturation in induced pluripotent stem MRC-iPS12 cell line [Pubmed] |
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types of alteration in cancer | encompassed in a deletion from derivative chromosome 9 in 80% of BCR-ABL positive cases in CML [Pubmed]; germline heterozygous mutations, that segregate with the disease, affect 33.3% of families, and are concurrent with somatic deletion of the second allele in familial schwannomatosis [Pubmed]; 65% of patients are affected by biallelic somatic alterations, including 26% homozygous for a whole gene deletion in atypical teratoid/rhabdoid tumour, renal malignant rhabdoid tumour, extrarenal malignant rhabdoid tumour [Pubmed]; 33.8% of patients are heterozygous for a germline mutation (typically truncating), concurrent with somatic alteration of the second allele in atypical teratoid/rhabdoid tumour, extrarenal malignant rhabdoid tumour, renal malignant rhabdoid tumour [Pubmed]; germline heterozygous truncating mutations in rhabdoid tumour predisposition syndrome-type 1 [Pubmed]; a germline heterozygous missense mutation segregating with tumours affecting the falx cerebri in familial multiple meningioma [Pubmed]; 8.6% of patients are affected by a predicted pathogenic germline mutation, including a recurrent 3'-UTR SNV in schwannomatosis [Pubmed]; 90.5% of tumours display no protein expression, and this is associated with homozygous deletion of multiple exons in 83.3% of cases in epithelioid sarcoma [Pubmed]; nuclear protein expression is often reduced, focally reduced, or absent in atypical teratoid/rhabdoid tumour, familial schwannomatosis, renal medullary carcinoma, sinonasal carcinoma, synovial sarcoma [Pubmed]; typically decreased expression in AML [Pubmed]; primarily missense mutations (recurrently affecting codon 377) in 5.4% of tumours in colorectal cancer (microsatellite-unstable) [Pubmed]; a truncating mutation, or missense mutation (affecting codon 377), in 5.1% of tumours in meningioma [Pubmed] |
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impact of mutation on function | p.Q318* mutation (C-terminal of the nuclear export signal) causes the loss of senescence-promoting activity, and cytoplasmic localisation of protein [Pubmed] |
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mouse model | 32% of mice heterozygous for a null allele develop undifferentiated sarcomas with variable rhabdoid features by 15 months of age [Pubmed]; embryonic day 9.5 neural crest cell conditional KO mice develop cranial nerve and meningeal tumours with rhabdoid histologic features [Pubmed] |
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fusion partner | CAPN2, MALAT1, MAML2, RORA in renal medullary carcinoma [Pubmed] |
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clinical impact | diffusely reduced protein expression is a diagnostic marker in synovial sarcoma [Pubmed]; absence of protein expression is associated with a shorter disease-free survival in sinonasal undifferentiated carcinoma [Pubmed] |
genome instability and mutations
expression in a protein expression-deficient cell line eliminates aneuploidies and restores a diploid karyotype in renal malignant rhabdoid tumour G-401 cell line [Pubmed]; KO cells show a normal level of H2AX S139-phosphorylation in response to double-strand DNA breaks, and show no increased sensitivity to DNA damaging agents in murine embryonic fibroblast [Pubmed]
escaping programmed cell death
overexpression in one of two protein expression-deficient cell lines increases apoptosis in renal malignant rhabdoid tumour, extrarenal malignant rhabdoid tumour G-401, TM87-16 cell line [Pubmed]; KD causes increased apoptosis in cervical cancer HeLa cell line [Pubmed]
invasion and metastasis
overexpression in a protein expression-deficient cell line decreases cell migration in renal malignant rhabdoid tumour G-401 cell line [Pubmed]; overexpression in a protein expression-deficient cell line reduces cell migration in epithelioid sarcoma VA-ES-BJ cell line [Pubmed]; KD leads to increased cell migration in AML HL60 cell line [Pubmed]
change of cellular energetics
KD promotes autophagy in chordoma MUG-Chor1, UM-Chor-1 cell line [Pubmed]
suppression of growth
overexpression in a protein expression-deficient cell line reduces mouse xenograft tumour growth and cell proliferation in vitro in epithelioid sarcoma VA-ES-BJ cell line [Pubmed]; overexpression in a protein expression-deficient cell line decreases cell proliferation in renal malignant rhabdoid tumour G-401 cell line [Pubmed]