HACE1 Chromosome 6
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
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What This Gene Does
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]
Gene Info
Gene Group
"Ankyrin repeat domain containing|HECT domain containing"
Locus Type
gene with protein product
Location
6q16.3
Ensembl
ENSG00000085382
Associated Conditions (7)
HACE1-related disorder
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Psychomotor retardation
Seizure
Global developmental delay
Generalized hypotonia
Intellectual disability
Key Variants
RS142150565
Conflicting classifications of pathogenicity
HACE1-related disorder, HACE1-related disorder
Health Risk
RS202110306
Conflicting classifications of pathogenicity
Health Risk
RS745394044
Conflicting classifications of pathogenicity
Health Risk
RS761703540
Conflicting classifications of pathogenicity
Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
Health Risk
RS1554244625
Likely pathogenic
Health Risk
RS1554245388
Likely pathogenic
Health Risk
RS1554263840
Likely pathogenic
Health Risk
RS1582771457
Likely pathogenic
Psychomotor retardation, Psychomotor retardation
Health Risk
RS1783022008
Likely pathogenic
HACE1-related disorder, HACE1-related disorder
Health Risk
RS2114793034
Likely pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
Health Risk
RS2483071538
Likely pathogenic
Health Risk
RS2483143302
Likely pathogenic
Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142150565 | Health Risk | Conflicting classifications of pathogenicity | HACE1-related disorder, HACE1-related disorder |
| RS202110306 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS745394044 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761703540 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS1554244625 | Health Risk | Likely pathogenic | — |
| RS1554245388 | Health Risk | Likely pathogenic | — |
| RS1554263840 | Health Risk | Likely pathogenic | — |
| RS1582771457 | Health Risk | Likely pathogenic | Psychomotor retardation, Psychomotor retardation |
| RS1783022008 | Health Risk | Likely pathogenic | HACE1-related disorder, HACE1-related disorder |
| RS2114793034 | Health Risk | Likely pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS2483071538 | Health Risk | Likely pathogenic | — |
| RS2483143302 | Health Risk | Likely pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS915732285 | Health Risk | Likely pathogenic | — |
| RS1319508199 | Health Risk | Pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS1337798545 | Health Risk | Pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS1582418143 | Health Risk | Pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS2114839785 | Health Risk | Pathogenic | — |
| RS2115167557 | Health Risk | Pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS2483372241 | Health Risk | Pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS2484021103 | Health Risk | Pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS750371878 | Health Risk | Pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Seizure, Global developmental delay |
| RS751809418 | Health Risk | Pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS761086584 | Health Risk | Pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS869025280 | Health Risk | Pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS869025281 | Health Risk | Pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS869025284 | Health Risk | Pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| RS759641985 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome |