人 HECTD4 抗体对
01AB02668
HECT domain E3 ubiquitin protein ligase 4 (HECTD4) is a large enzyme over 4000 amino acids long with multiple isoforms, functioning as an E3 ubiquitin-protein ligase. It facilitates the transfer of ubiquitin from an E2 enzyme to substrate proteins, a key step in ubiquitination that tags proteins for degradation or regulates their activity, thus playing important roles in protein quality control and cellular regulation. HECTD4 belongs to the HECT family characterized by a catalytic HECT domain responsible for its ubiquitin ligase activity. Functionally, it is implicated in diverse cellular processes including glucose homeostasis and protein modification within the endoplasmic reticulum. Clinically, biallelic variants in HECTD4 have been associated with neurodevelopmental disorders overlapping with Angelman syndrome. Such mutations disrupt ubiquitination pathways, leading to impaired protein homeostasis and contributing to the disease phenotype.
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技术参数
- 靶点基因名
- HECTD4
- 基因别名
- C12orf51; KIAA0614
- 蛋白别名
- HECT domain E3 ubiquitin protein ligase 4; HECTD4
- UniProt
- Q9Y4D8
- 物种
- Human
产品详情
- 靶点名称
- HECTD4
- 蛋白名称
- HECT domain E3 ubiquitin protein ligase 4
- 蛋白别名
- Probable E3 ubiquitin-protein ligase HECTD4; HECT domain-containing protein 4; HECT-type E3 ubiquitin transferase HECTD4
- 靶点基因名
- HECTD4
- 基因别名
- C12orf51; KIAA0614
- UniProt
- Q9Y4D8
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
HECT domain E3 ubiquitin protein ligase 4 (HECTD4) is a large enzyme over 4000 amino acids long with multiple isoforms, functioning as an E3 ubiquitin-protein ligase. It facilitates the transfer of ubiquitin from an E2 enzyme to substrate proteins, a key step in ubiquitination that tags proteins for degradation or regulates their activity, thus playing important roles in protein quality control and cellular regulation. HECTD4 belongs to the HECT family characterized by a catalytic HECT domain responsible for its ubiquitin ligase activity. Functionally, it is implicated in diverse cellular processes including glucose homeostasis and protein modification within the endoplasmic reticulum. Clinically, biallelic variants in HECTD4 have been associated with neurodevelopmental disorders overlapping with Angelman syndrome. Such mutations disrupt ubiquitination pathways, leading to impaired protein homeostasis and contributing to the disease phenotype.