SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a
protein that in humans is encoded by the SMARCB1gene.[5][6][7]
Function
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. The encoded
nuclear protein may also bind to and enhance the DNA joining activity of
HIV-1 integrase. This gene has been found to be a
tumor suppressor and
mutations in it have been associated with malignant
rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene.[8]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Kalpana GV, Marmon S, Wang W, Crabtree GR, Goff SP (January 1995). "Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5". Science. 266 (5193): 2002–6.
doi:
10.1126/science.7801128.
PMID7801128.
^
abCheng SW, Davies KP, Yung E, Beltran RJ, Yu J, Kalpana GV (May 1999). "c-MYC interacts with INI1/hSNF5 and requires the SWI/SNF complex for transactivation function". Nat Genet. 22 (1): 102–5.
doi:
10.1038/8811.
PMID10319872.
S2CID12945791.
Van Maele B, Debyser Z (2005). "
HIV-1 integration: an interplay between HIV-1 integrase, cellular and viral proteins". AIDS Reviews. 7 (1): 26–43.
PMID15875659.
Judkins AR (2007). "Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology". Advances in Anatomic Pathology. 14 (5): 335–9.
doi:
10.1097/PAP.0b013e3180ca8b08.
PMID17717433.
S2CID27654280.
Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O (1998). "Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer". Nature. 394 (6689): 203–6.
Bibcode:
1998Natur.394..203V.
doi:
10.1038/28212.
PMID9671307.
S2CID6019090.
Bruder CE, Dumanski JP, Kedra D (1999). "The mouse ortholog of the human SMARCB1 gene encodes two splice forms". Biochem. Biophys. Res. Commun. 257 (3): 886–90.
doi:
10.1006/bbrc.1999.0563.
PMID10208879.
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a
protein that in humans is encoded by the SMARCB1gene.[5][6][7]
Function
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. The encoded
nuclear protein may also bind to and enhance the DNA joining activity of
HIV-1 integrase. This gene has been found to be a
tumor suppressor and
mutations in it have been associated with malignant
rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene.[8]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Kalpana GV, Marmon S, Wang W, Crabtree GR, Goff SP (January 1995). "Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5". Science. 266 (5193): 2002–6.
doi:
10.1126/science.7801128.
PMID7801128.
^
abCheng SW, Davies KP, Yung E, Beltran RJ, Yu J, Kalpana GV (May 1999). "c-MYC interacts with INI1/hSNF5 and requires the SWI/SNF complex for transactivation function". Nat Genet. 22 (1): 102–5.
doi:
10.1038/8811.
PMID10319872.
S2CID12945791.
Van Maele B, Debyser Z (2005). "
HIV-1 integration: an interplay between HIV-1 integrase, cellular and viral proteins". AIDS Reviews. 7 (1): 26–43.
PMID15875659.
Judkins AR (2007). "Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology". Advances in Anatomic Pathology. 14 (5): 335–9.
doi:
10.1097/PAP.0b013e3180ca8b08.
PMID17717433.
S2CID27654280.
Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O (1998). "Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer". Nature. 394 (6689): 203–6.
Bibcode:
1998Natur.394..203V.
doi:
10.1038/28212.
PMID9671307.
S2CID6019090.
Bruder CE, Dumanski JP, Kedra D (1999). "The mouse ortholog of the human SMARCB1 gene encodes two splice forms". Biochem. Biophys. Res. Commun. 257 (3): 886–90.
doi:
10.1006/bbrc.1999.0563.
PMID10208879.