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DNMT3A Q9Y6K1

DNA(胞嘧啶-5)-甲基转移酶 3A (Dnmt3a) (EC 2.1.1.37) (半胱氨酸甲基转移酶 DNMT3A) (EC 2.1.1.-) (DNA甲基转移酶 HsaIIIA) (DNA MTase HsaIIIA) (M.HsaIIIA)

蛋白质信息 (UniProt)

DNA(胞嘧啶-5)-甲基转移酶 3A (Dnmt3a) (EC 2.1.1.37) (半胱氨酸甲基转移酶 DNMT3A) (EC 2.1.1.-) (DNA甲基转移酶 HsaIIIA) (DNA MTase HsaIIIA) (M.HsaIIIA)

Q9Y6K1

功能描述

全基因组de novo甲基化所必需,对于发育过程中DNA甲基化模式的建立至关重要 (PubMed:12138111, PubMed:16357870, PubMed:30478443)。DNA甲基化与组蛋白甲基化相协调 (PubMed:12138111, PubMed:16357870, PubMed:30478443)。它以非进行性方式修饰DNA,并且也甲基化非CpG位点 (PubMed:12138111, PubMed:16357870, PubMed:30478443)。可能优先甲基化2个核小体核心之间的DNA连接子,并受组蛋白H1抑制 (By similarity)。在父本和母本印记中起作用 (By similarity)。生殖细胞中大多数印记位点的甲基化所必需 (By similarity)。作为ZBTB18的转录共抑制因子 (By similarity)。被募集到组蛋白H3的三甲基化'Lys-36' (H3K36me3) 位点 (By similarity)。能通过募集HDAC活性主动抑制转录 (By similarity)。在缺乏DNA的情况下,对Cys-710也具有微弱的自身甲基化活性 (By similarity)。 {ECO:0000250|UniProtKB:O88508, ECO:0000269|PubMed:12138111, ECO:0000269|PubMed:16357870, ECO:0000269|PubMed:30478443}。

组织特异性

Highly expressed in fetal tissues, skeletal muscle, heart, peripheral blood mononuclear cells, kidney, and at lower levels in placenta, brain, liver, colon, spleen, small intestine and lung.

亚细胞定位

Nucleus

关键词

3D-structure Alternative promoter usage Alternative splicing Chromatin regulator Chromosome Cytoplasm Disease variant DNA-binding Dwarfism Intellectual disability