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Validated All-in-One™ qPCR Primer for SMARCB1(NM_003073.4) Search again
Product ID:
HQP017526
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
BAF47, CSS3, INI-1, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS
Gene Description:
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Target Gene Accession:
NM_003073.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively.
Gene References into function
- The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors
- Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors.
- SWI/SNF complex interacts with tumor suppressor p53 and is necessary for the activation of p53-mediated transcription
- facilitates the function of the growth arrest and DNA damage-inducible protein (GADD34) and modulates GADD34-bound protein phosphatase-1 activity
- Chromatin remodeling factor encoded by ini1 induces G1 arrest and apoptosis in ini1-deficient cells.
- The INI1 promoter is not hypermethylated in pediatric rhabdoid tumors.
- Data suggest that one mechanism by which INI1/hSNF5 exerts its tumor suppressor function is by mediating the cell cycle arrest due to the direct recruitment of HDAC activity to the cyclin D1 promoter, causing its repression and G(0)-G(1) arrest.
- Mutation may alter the amount of cMYC protein, but SMARCB1 is highly conserved in human solid carcinomas.
- INI1 is a tumor suppressor gene gone awry in malignant rhabdoid tumor cells
- germline hSNF5 mutation is associated with rhabdoid predisposition syndrome
- alternative splicing and role implicated in interaction with HIV-1
- hSNF5-induced cellular senescence is mediated by the p16(INK4a)/pRb pathway
- transdominant mutant S6, harboring the minimal integrase interaction domain of INI1/hSNF5, blocks HIV-1 particle production but not that of the other retroviruses in 293T cells
- in human cells, SWI/SNF enzyme complex formation and the expression of many BRG1-dependent genes are independent of INI1.
- Novel SMARCB1 germ-line deletions in neonatal congenital kidney rhabdoid tumors and brain primitive neuroectodermal tumors patients.
- hSNF5/INI1 may modulate the cell cycle control and cytoskeleton organization through the regulation of the retinoblastoma protein-E2F and Rho pathways.
- somatic point mutations of hSNF5/INI1 do not play a role in the pathogenesis of choroid plexus papilloma
- Immunohistochemical analysis of hSNF5/INI1 gene distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors by assessing loss of INI1 expression in rhabdoid tumors.
- INI1 is dispensable for retrovirus-induced cytoplasmic accumulation of PML and does not interfere with virus integration.
- Mutated in choroid plexus carcinoma.
- INI1 immunohistochemistry is a relatively simple, sensitive, and specific technique for distinguishing malignant rhabdoid tumor and atypical teratoid/rhabdoid tumor from composite rhabdoid tumor.
- hSNF5 activates the mitotic checkpoint through the p16INK4a-cyclinD/CDK4-pRb-E2F pathway, whereas loss of hSNF5 function in malignant rhabdoid tumor-derived cells leads to polyploidization and chromosomal instability.
- The tumor suppressor gene hSNF5 was lacking in the malignant rhabdoid tumor of the liver.
- SMARCB1/INI1 inactivation to 6 of 11 cases of epithelioid sarcoma is shown by real-time quantitative PCR analysis of mRNA expression and by SMARCB1/INI1 immunohistochemistry.
- Tumors harbored such hSNF5/INI1 aberrations as germline single base deletion (492/6 delC) and missense mutation (C157T) together with LOH 22q or homozygous deletion. Cyclin D1 was overexpressed in the same tumors.
- INI1hSNF5 and PARVG do not seem to be the tumor suppressor genes involved in oligodendroglioma development and progression
- This strongly suggests that the SNF5 homology domain presents species-specific functions.
- INI1/hSNF5/BAF47 could be recruited to the region of cellular oncogene c-fos promoter to reduce histone acetylation
- All conserved domains of INI1/hSNF5/BAF47 are needed for CSF1 transcription and INI1/ hSNF5/BAF47 is recruited to the region of the CSF1 promoter.
- hSNF5 binds the p16INK4a and p21CIP/WAF1 promoters, suggesting that it directly regulates transcription of these genes. hSNF5 loss may influence the regulation of multiple CDK inhibitors involved in replicative senescence.
- Immunohistochemistry to assess expression of SMARCB1/INI1 may be useful in the diagnosis of rhabdoid tumors of the CNS, kidneys and soft tissue.
- BAF155 and potentially INI1 are substrates for Akt phosphorylation
- by interacting with IN, SNF5/Ini1 interferes with early steps of HIV-1 infection
- While INI1 is dispensable for HIV-1 transduction, it can facilitate HIV-1 transcription by enhancing Tat function.
- Relationship between Rb and Ini1 in tumor suppression indicate that Ini1 plays a role in maintaining the morphologic and functional differentiation of corticotrophic cells.
- INI1 is the predisposing gene in familial schwannomatosis.
- results demonstrate that deletions and mutations of the INI1 gene can occur in rare composite rhabdoid tumors of adulthood
- Inactivation of the SMARCB1/INI1 gene is associated with rhabdoid tumor
- Knockdown experiments performed in human ALL cell lines confirmed that lower SMARCB1 expression increased prednisolone resistance.
- Gene expression profiling of the hSNF5-down-regulated cells by cDNA microarray analysis revealed that a limited number of p53-responsive genes, especially p21, were up-regulated
- Microarray studies indicated that INI1 activated IFN-stimulated genes at early time points and senescence markers at late time points and repressed mitotic genes such as Polo like kinase 1 (PLK1), selectively in rhabdoid cells.
- Loss of INI1 expression may rarely be encountered in tumors undergoing malignant transformation, but this is accompanied by mutation in the INI1 gene.
- hSNF5/INI1 cooperates with C/EBPbeta and PPARgamma2 transcriptional regulators to activate the expression of adipocyte-specific genes.
- The latter observation suggests that a four-hit mechanism involving the SMARCB1 and NF2 genes may be implicated in schwannomatosis-related tumorigenesis.
- Transmission of a germline INI1-mutation in a rhabdoid tumor predisposition syndrome family via nonpenetrant males.
- present genetic evidence that the meningioma is not a recurrence or metastasis of the AT/RT and not due to the INI1 mutation, but is a radiation-induced tumour.
- SMARCB1 may be a tumor suppressor gene for malignant rhabdoid tumor.
- two single nucleotide polymorphisms at the hSNF5/INI1 gene in exon 4 and exon 9 were found in controls and in Acute myeloid leukemia patients
- In all affected individuals with SMARCB1 mutations and available tumour tissue, bi-allelic somatic inactivation of the NF2 gene, was detected.
- the absence of INI1 expression is not necessarily predictive of rhabdoid histopathology but remains associated with aggressive behavior in renal medullary carcinoma.
- These results confirm a role for INI1/SMARCB1 in multiple schwannoma syndromes and suggest that a different pathway of tumorigenesis occurs in solitary, sporadic tumors.
- Lack of SMARCB1 expression may be associated with rhabdoid features. The immunohistochemical result of the SMARCB1 expression is not an absolute diagnostic criteria for malignant rhabdoid tumor.
- SMARCB1 is a tumor suppressor for schwannomas in the context of familial disease.
- inhibition of migration is another crucial tumor suppressor function of hSNF5/INI1, in addition to its previously described functions in proliferation and differentiation
- Snf5-deficient primary cells do not show altered sensitivity to DNA damaging agents, defects in gamma-H2AX induction, or an abrogated DNA damage checkpoint.
- Analysis of alterations in the SMARCB1/INI1 gene may be a useful for distinguishing proximal-type epithelioid sarcoma from malignant rhabdoid tumor.
- of INI1 immunostaining is a reliable marker for rhabdoid tumours and atypical teratoid/rhabdoid tumours in children.
- alterations of the INI1 gene with consequent loss of expression identified a population of undifferentiated sarcomas lacking classic rhabdoid morphology in young patients, with evidence of favorable survival
- a germline 2631 bp duplication that includes exon 6 of SMARCB1 in a unique family with a four generation history of MRT predisposition and schwannomatosis.
- Loss of expression of INI1 is frequent in the conventional and large cell subtypes of epithelioid sarcoma and can be used as a diagnostic marker, but it has no prognostic impact.