Entrez Gene ID | 57531 |
---|---|
Official Gene Symbol | HACE1 (GeneCards) |
Full name | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 |
Location | 6q16.3 |
Other ids | Vega : OTTHUMG00000015287 MIM : 610876 HGNC : HGNC:21033 Ensembl : ENSG00000085382 |
Other names | SPPRS |
Summary | This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016] |
Found 2 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
10108 | 57531 | HACE1 | 6 | 105190977 | 105190977 | Cockayne syndrome | HiSeq X Ten |
10157 | 57531 | HACE1 | 6 | 105201175 | 105201175 | Cockayne syndrome | HiSeq X Ten |