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APTX Q7Z2E3

早老素 (EC 3.6.1.71) (EC 3.6.1.72) (叉头相关结构域组氨酸三联体样蛋白) (FHA-HIT)

蛋白质信息 (UniProt)

早老素 (EC 3.6.1.71) (EC 3.6.1.72) (叉头相关结构域组氨酸三联体样蛋白) (FHA-HIT)

Q7Z2E3

功能描述

参与单链DNA断裂修复、双链DNA断裂修复和碱基切除修复的DNA结合蛋白 (PubMed:15044383, PubMed:15380105, PubMed:16964241, PubMed:17276982, PubMed:24362567)。解决在碱基切除位点形成的,或当DNA连接酶试图修复由活性氧诱导的不可连接断裂时形成的流产DNA连接中间体 (PubMed:16964241, PubMed:24362567)。催化释放共价连接到5'-磷酸末端的腺苷酸基团,从而产生可被有效重新连接的5'-磷酸末端 (PubMed:16964241, PubMed:17276982, PubMed:24362567)。也能够水解腺苷5'-单磷酰胺 (AMP-NH(2)) 和二腺苷四磷酸 (AppppA),但催化活性较低 (PubMed:16547001)。同样,催化从DNA中释放3'-连接的鸟苷 (DNAppG) 和肌苷 (DNAppI),但对5'-连接的腺苷 (AppDNA) 具有更高的比活性 (By similarity)。 {ECO:0000250|UniProtKB:O74859, ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:15380105, ECO:0000269|PubMed:16547001, ECO:0000269|PubMed:16964241, ECO:0000269|PubMed:17276982, ECO:0000269|PubMed:24362567}。

组织特异性

Widely expressed; detected in liver, kidney and lymph node (at protein level) (PubMed:14755728). Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2 (at protein level) (PubMed:14755728). Widely expressed; detected throughout the brain, in liver, kidney, skeletal muscle, fibroblasts, lymphocytes and pancreas (PubMed:11586299, PubMed:11586300, PubMed:15276230).

亚细胞定位

Nucleus, nucleoplasm

关键词

3D-structure Alternative splicing Cytoplasm Disease variant DNA damage DNA repair DNA-binding Hydrolase Metal-binding Neurodegeneration