ASH1L Q9NR48

组蛋白-赖氨酸N-甲基转移酶ASH1L (EC 2.1.1.359) (EC 2.1.1.367) (ASH1样蛋白) (huASH1) (缺失小盘和同源盘蛋白1同源物) (赖氨酸N-甲基转移酶2H)

蛋白质信息 (UniProt)

组蛋白-赖氨酸N-甲基转移酶ASH1L (EC 2.1.1.359) (EC 2.1.1.367) (ASH1样蛋白) (huASH1) (缺失小盘和同源盘蛋白1同源物) (赖氨酸N-甲基转移酶2H)

Q9NR48

功能描述

组蛋白甲基转移酶，特异性三甲基化组蛋白H3的'Lys-36'，形成H3K36me3 (PubMed:21239497)。在体外也能单甲基化组蛋白H3的'Lys-9' (H3K9me1) (By similarity)。H3K9me1活性的生理意义尚不清楚 (By similarity)。 {ECO:0000250|UniProtKB:Q99MY8, ECO:0000269|PubMed:21239497}。

组织特异性

Widely expressed, with highest level in brain, heart and kidney.

亚细胞定位

Nucleus

关键词

3D-structure Acetylation Activator Alternative splicing Bromodomain Cell junction Chromatin regulator Chromosome Disease variant Intellectual disability

外部链接

UniProt: Q9NR48

NCBI Gene

GeneCards