HECTD1
Description
The HECTD1 (HECT domain E3 ubiquitin protein ligase 1) is a protein-coding gene located on chromosome 14.
HECTD1 is an E3 ubiquitin ligase that accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers it to target proteins. It mediates Lys-63-linked polyubiquitination of HSP90AA1, leading to its intracellular localization and reduced secretion. HECTD1 negatively regulates HSP90AA1 secretion in cranial mesenchyme cells, which may impair their emigration and play a role in the development of the cranial neural folds and neural tube closure. It also catalyzes the ubiquitination and degradation of ZNF622, an assembly factor for the ribosomal 60S subunit, in hematopoietic cells, promoting hematopoietic stem cell renewal.
HECTD1 is also known as EULIR.
Associated Diseases
- isolated spina bifida
- anencephaly 1
- familial thoracic aortic aneurysm and aortic dissection
- spina bifida-hypospadias syndrome
- 22q11.2 deletion syndrome
- autosomal dominant coarctation of aorta
- familial bicuspid aortic valve
