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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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|---|---|
Gene ID | 6598 |
Name | SMARCB1 |
Synonym | BAF47|INI1|RDT|RTPS1|SNF5|SNF5L1|Sfh1p|Snr1|hSNFS;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1;SMARCB1;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Definition | BRG1-associated factor 47|SNF5 homolog|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1|hSNF5|integrase interactor 1 protein|malignant rhabdoid tumor suppressor|sucrose nonfermenting, yeast, homolog-like 1 |
Position | 22q11.23|22q11 |
Gene Type | protein-coding |
Source | Count: 4; Pubmed_search,TAG,UniProt,Generif |
Literature support | Count: 24 PubMed records as below. |
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Evidence Status |
Description |
reviewed | "Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition." |
reviewed | INI1 is the primary tumor suppressor gene involved in the development of rhabdoid tumors with no second locus identified. |
reviewed | Imprinted CDKN1C is a tumor suppressor in rhabdoid tumor and activated by restoration of SMARCB1 and histone deacetylase inhibitors. |
reviewed | Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability. |
reviewed | "inhibition of migration is another crucial tumor suppressor function of hSNF5/INI1, in addition to its previously described functions in proliferation and differentiation". |
reviewed | SMARCB1 is a tumor suppressor for schwannomas in the context of familial disease. |
reviewed | SMARCB1 may be a tumor suppressor gene for malignant rhabdoid tumor. |
reviewed | ING tumor suppressor proteins are critical regulators of chromatin acetylation required for genome expression and perpetuation. |
reviewed | INI1hSNF5 and PARVG do not seem to be the tumor suppressor genes involved in oligodendroglioma development and progression. |
reviewed | SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas. |
| More detail of all 24 literatures about SMARCB1 | |
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Pathways and Diseases |
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Pathway | Regulation of retinoblastoma protein;PID Curated;200191 |
Pathway | Wnt signaling pathway;PANTHER;P00057 |
Disease | Rhabdoid tumors;OMIM |
Disease | Rhabdoid predisposition syndrome;GAD |
Disease | CANCER;GAD |
Disease | Cancer;FunDO |
Disease | Rhabdoid predisposition syndrome 1;OMIM |
Disease | rhabdoid tumors;GAD |
Disease | HIV infection;FunDO |
Disease | Brain disease;FunDO |
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External Links |
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Links to Entrez Gene | 6598 |
Links to all GeneRIF Items | 6598 |
Links to iHOP | 6598 |
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Sequence Information |
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Nucleotide Sequence |
>6598 : length: 1131 atgatgatgatggcgctgagcaagaccttcgggcagaagcccgtgaagttccagctggag gacgacggcgagttctacatgatcggctccgaggtgggaaactacctccgtatgttccga ggttctctgtacaagagatacccctcactctggaggcgactagccactgtggaagagagg aagaaaatagttgcatcgtcacatgatcacggatacacgactctagccaccagtgtgacc ctgttaaaagcctcggaagtggaagagattctggatggcaacgatgagaagtacaaggct gtgtccatcagcacagagccccccacctacctcagggaacagaaggccaagaggaacagc cagtgggtacccaccctgcccaacagctcccaccacttagatgccgtgccatgctccaca accatcaacaggaaccgcatgggccgagacaagaagagaaccttccccctttgctttgat gaccatgacccagctgtgatccatgagaacgcatctcagcccgaggtgctggtccccatc cggctggacatggagatcgatgggcagaagctgcgagacgccttcacctggaacatgaat gagaagttgatgacgcctgagatgttttcagaaatcctctgtgacgatctggatttgaac ccgctgacgtttgtgccagccatcgcctctgccatcagacagcagatcgagtcctacccc acggacagcatcctggaggaccagtcagaccagcgcgtcatcatcaagctgaacatccat gtgggaaacatttccctggtggaccagtttgagtgggacatgtcagagaaggagaactca ccagagaagtttgccctgaagctgtgctcggagctggggttgggcggggagtttgtcacc accatcgcatacagcatccggggacagctgagctggcatcagaagacctacgccttcagc gagaaccctctgcccacagtggagattgccatccggaacacgggcgatgcggaccagtgg tgcccactgctggagactctgacagacgctgagatggagaagaagatccgcgaccaggac aggaacacgaggcggatgaggcgtcttgccaacacggccccggcctggtaa |
Protein Sequence |
>6598 : length: 376 MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEER KKIVASSHDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYLREQKAKRNS QWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENASQPEVLVPI RLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASAIRQQIESYP TDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSELGLGGEFVT TIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAEMEKKIRDQD RNTRRMRRLANTAPAW |