硫酰基酶激活
中文名称
通路描述
硫酰基酶活性需要催化半胱氨酸残基发生独特的翻译后修饰(PTM),即形成甲酰甘氨酸。这种修饰在多重硫酰基酶缺乏症(MSD)患者中受损,因为该修饰由负责该 PTM 的 SUMF1(硫酰基酶修饰因子 1)基因缺陷所致。SUMF2 可抑制 SUMF1 活性,从而提供硫酰基酶激活调节的机制。
英文描述
CHD6, CHD7, CHD8, CHD9 subfamily CHD6, CHD7, CHD8 and CHD9 make up subfamily III, based on their orthology to the founding member in Drosophila, Kismet (Tamkun et al, 1992, Daubresse et al, 1999). Like subfamily I and II proteins, subfamily III proteins have tandem N-terminal chromodomains and a SNF2 ATPase domain, but also have additional C-terminal motifs including a Brahma-Kismet (BRK) domain, a SANT motif, and a DNA-binding region (reviewed in Marfella and Imbalzano, 2007; Alendar and Berns, 2021). The function of the BRK domain, so named because of its identification in the Drosophila Brahma and Kismet proteins, is not elucidated but it may play a role in binding CTCF (Allen et al, 2007; Ishihara et al, 2006). Like other CHD proteins, subfamily III is implicated in regulation of transcription, proliferation and repair of DNA damage (reviewed in Alendar and Berns, 2021). Although CHD6-9 are 50-54% identical, they appear to have distinct biochemical characteristics and to play non-redundant biological roles (Manning and Yusufzai, 2017; reviewed in Mills et al, 2017).
所含基因
48 个基因
AXIN2
CHD6
CHD7
CHD8
CHD9
CREBBP
CTCF
CTNNB1
DKK2
EP300
FAM124B
H2AFB1
H2AFJ
H2AFV
H2AFX
H2BFS
H3F3A
HIST1H2AB
HIST1H2AC
HIST1H2AD
HIST1H2AJ
HIST1H2BA
HIST1H2BB
HIST1H2BC
HIST1H2BD
HIST1H2BH
HIST1H2BJ
HIST1H2BK
HIST1H2BL
HIST1H2BM
HIST1H2BN
HIST1H2BO
HIST1H3A
HIST1H4
HIST2H2AA3
HIST2H2AC
HIST2H2BE
HIST2H3A
HIST3H2BB
IGF2
MAFK
NKD2
NP
NQO1
PA
PB1
PB2
WDR5