AlphaFold predicted structure
HECTD1 · Q9ULT8
Mean pLDDT
68.1/ 100
Low
2,610 residues
Confidence breakdown
- Very high(≥ 90)15%
- Confident(70–90)49%
- Low(50–70)9%
- Very low(< 50)27%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
HECTD1
Chr 14q12HECT domain E3 ubiquitin protein ligase 1
- Aliases:
- KIAA1131
- MANE:
- ENST00000399332.6
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disease associations (Open Targets)
neurodegenerative disease
0.56Intellectual disability
0.34respiratory tract infectious disorder
0.31spontaneous preterm birth
0.29stroke disorder
0.26alcohol drinking
0.26Alzheimer disease
0.21neurodevelopmental disorder
0.19familial thoracic aortic aneurysm and aortic dissection
0.08Heterotaxia
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
E3 ubiquitin-protein ligase HECTD1
E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:33711283). Mediates 'Lys-63'-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion (By similarity). Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells may impair their emigration and may be essential for the correct development of the cranial neural folds and neural tube closure (By similarity). Catalyzes ubiquitination and degradation of ZNF622, an assembly factor for the ribosomal 60S subunit, in hematopoietic cells, thereby promoting hematopoietic stem cell renewal (PubMed:33711283)