| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 6598 |
Name | SMARCB1 |
Synonym | BAF47|INI1|MRD15|PPP1R144|RDT|RTPS1|SNF5|SNF5L1|SWNTS1|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|SWI/SNF-related matrix-associated protein|hSNF5|integrase interactor 1 protein|malignant rhabdoid tumor suppressor|protein |
Position | 22q11.23|22q11 |
Gene Type | protein-coding |
Pathways and Diseases | |
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 |
External Links | |
Links to Entrez Gene | 6598 |
Links to all GeneRIF Items | 6598 |
Links to iHOP | 6598 |
Sequence Information | |
Nucleotide Sequence | >6598 : length: 1744 CTGCGCACTGAGGGCGGCCTGGTCGTCGTCTGCGGCGGCGGCGGCGGCTGAGGAGCCCGG CTGAGGCGCCAGTACCCGGCCCGGTCCGCATTTCGCCTTCCGGCTTCGGTTTCCCTCGGC CCAGCACGCCCCGGCCCCGCCCCAGCCCTCCTGATCCCTCGCAGCCCGGCTCCGGCCGCC CGCCTCTGCCGCCGCAATGATGATGATGGCGCTGAGCAAGACCTTCGGGCAGAAGCCCGT GAAGTTCCAGCTGGAGGACGACGGCGAGTTCTACATGATCGGCTCCGAGGTGGGAAACTA CCTCCGTATGTTCCGAGGTTCTCTGTACAAGAGATACCCCTCACTCTGGAGGCGACTAGC CACTGTGGAAGAGAGGAAGAAAATAGTTGCATCGTCACATGGTAAAAAAACAAAACCTAA CACTAAGGATCACGGATACACGACTCTAGCCACCAGTGTGACCCTGTTAAAAGCCTCGGA AGTGGAAGAGATTCTGGATGGCAACGATGAGAAGTACAAGGCTGTGTCCATCAGCACAGA GCCCCCCACCTACCTCAGGGAACAGAAGGCCAAGAGGAACAGCCAGTGGGTACCCACCCT GCCCAACAGCTCCCACCACTTAGATGCCGTGCCATGCTCCACAACCATCAACAGGAACCG CATGGGCCGAGACAAGAAGAGAACCTTCCCCCTTTGGTGTGGATGCATCGCTGCACTCAC CCTCCGTGCTGATTCCGCCTTAGTTCTCCACTTTGATGACCATGACCCAGCTGTGATCCA TGAGAACGCATCTCAGCCCGAGGTGCTGGTCCCCATCCGGCTGGACATGGAGATCGATGG GCAGAAGCTGCGAGACGCCTTCACCTGGAACATGAATGAGAAGTTGATGACGCCTGAGAT GTTTTCAGAAATCCTCTGTGACGATCTGGATTTGAACCCGCTGACGTTTGTGCCAGCCAT CGCCTCTGCCATCAGACAGCAGATCGAGTCCTACCCCACGGACAGCATCCTGGAGGACCA GTCAGACCAGCGCGTCATCATCAAGCTGAACATCCATGTGGGAAACATTTCCCTGGTGGA CCAGTTTGAGTGGGACATGTCAGAGAAGGAGAACTCACCAGAGAAGTTTGCCCTGAAGCT GTGCTCGGAGCTGGGGTTGGGCGGGGAGTTTGTCACCACCATCGCATACAGCATCCGGGG ACAGCTGAGCTGGCATCAGAAGACCTACGCCTTCAGCGAGAACCCTCTGCCCACAGTGGA GATTGCCATCCGGAACACGGGCGATGCGGACCAGTGGTGCCCACTGCTGGAGACTCTGAC AGACGCTGAGATGGAGAAGAAGATCCGCGACCAGGACAGGAACACGAGGCGGATGAGGCG TCTTGCCAACACGGCCCCGGCCTGGTAACCAGCCCATCAGCACACGGCTCCCACGGAGCA TCTCAGAAGATTGGGCCGCCTCTCCTCCATCTTCTGGCAAGGACAGAGGCGAGGGGACAG CCCAGCGCCATCCTGAGGATCGGGTGGGGGTGGAGTGGGGGCTTCCAGGTGGCCCTTCCC GGCACACATTCCATTTGTTGAGCCCCAGTCCTGCCCCCCACCCCACCCTCCCTACCCCTC CCCAGTCTCTGGGGTCAGGAAGAAACCTTATTTTAGGTTGTGTTTTGTTTTTGTATAGGA GCCCCAGGCAGGGCTAGTAACAGTTTTTAAATAAAAGGCAACAGGTCATGTTCAATTTCT TCAA |
Protein Sequence | >6598 : length: 403 MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEER KKIVASSHGKKTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYL REQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLWCGCIAALTLRADS ALVLHFDDHDPAVIHENASQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEIL CDDLDLNPLTFVPAIASAIRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWD MSEKENSPEKFALKLCSELGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRN TGDADQWCPLLETLTDAEMEKKIRDQDRNTRRMRRLANTAPAW |