User:Juliet Obi/Sandbox 1
From Proteopedia
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== BAZ1A function == | == BAZ1A function == | ||
| - | BAZ1A encodes the chromatin-remodeling factor ACF1, which is a member of the ISWI chromatin remodeling complexes including the ATP-dependent chromatin assembly factor ACF, and the chromatin accessibility complex, CHRAC. BAZ1A (ACF1) has been implicated in a number of functions including chromatin remodeling, assembly and DNA repair. Together with the ISWI subunit, it has been shown to assemble regularly spaced nucleosome arrays in an ATP-dependent manner <ref>PMID:10385622</ref>. BAZ1A functions in certain DNA repair pathways including nucleotide excision repair (NER), non-homologous end-joining (NHEJ) and homologous recombination (HR), through interaction with a catalytic ATPase subunit, SMARCA5 <ref>DOI 10.4161/15384101.2014.956551</ref>. BAZ1A has been shown to have a regulatory function in the transcriptional suppression of vitamin D3 receptor-regulated genes <ref>DOI 10.1210/me.2007-0095</ref>, and in the transcriptional regulation of stress-induced depressive-like behaviors <ref>DOI 10.1038/nm.3939</ref>. A recent study with an identified variant in BAZ1A found that this affects the transcriptional regulatory function of ACF1, thus affecting the expression of genes crucial in vitamin D metabolism, the Wnt signalling pathway, and in proper synaptic function <ref>DOI 10.1002/humu.23034</ref>. | + | BAZ1A encodes the chromatin-remodeling factor ACF1, which is a member of the ISWI chromatin remodeling complexes including the ATP-dependent chromatin assembly factor ACF, and the chromatin accessibility complex, CHRAC. BAZ1A (ACF1) has been implicated in a number of functions including chromatin remodeling, assembly and DNA repair. Together with the ISWI subunit, it has been shown to assemble regularly spaced nucleosome arrays in an ATP-dependent manner <ref>PMID:10385622</ref>. BAZ1A functions in certain DNA repair pathways including nucleotide excision repair (NER), non-homologous end-joining (NHEJ) and homologous recombination (HR), through interaction with a catalytic ATPase subunit, SMARCA5 <ref>DOI 10.4161/15384101.2014.956551</ref>. BAZ1A has been shown to have a regulatory function in the transcriptional suppression of vitamin D3 receptor-regulated genes <ref>DOI 10.1210/me.2007-0095</ref>, and in the transcriptional regulation of stress-induced depressive-like behaviors <ref>DOI 10.1038/nm.3939</ref>. A recent study with an identified variant in BAZ1A found that this affects the transcriptional regulatory function of ACF1, thus affecting the expression of genes crucial in vitamin D metabolism, the Wnt signalling pathway, and in proper synaptic function, highlighting the important role BAZ1A has in nervous system development and function <ref>DOI 10.1002/humu.23034</ref>. |
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== Structural features == | == Structural features == | ||
Revision as of 02:41, 30 November 2017
Bromodomain Adjacent to Zinc Finger domain 1A
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