HUWE1 Chromosome X
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
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What This Gene Does
This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
"Armadillo like helical domain containing|MicroRNA protein coding host genes|HECT domain containing"
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000086758
Associated Conditions (17)
Global developmental delay
Inborn genetic diseases
HUWE1-related disorder
Intellectual disability
X-linked syndromic
Turner type
Abnormal corpus callosum morphology
HUWE1-related neurodevelopmental disorder
Trigonocephaly-short stature-developmental delay syndrome
Autism spectrum disorder
Ovarian cancer
X-linked intellectual disability
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Thyroid cancer
nonmedullary
1
Neurodevelopmental delay
Key Variants
RS1012962799
Conflicting classifications of pathogenicity
Health Risk
RS1045935059
Conflicting classifications of pathogenicity
Global developmental delay, Inborn genetic diseases, Global developmental delay
Health Risk
RS1047233939
Conflicting classifications of pathogenicity
HUWE1-related disorder, Inborn genetic diseases, HUWE1-related disorder
Health Risk
RS1057520538
Conflicting classifications of pathogenicity
Intellectual disability, X-linked syndromic, Turner type
Health Risk
RS1233360706
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1253152691
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1269602767
Conflicting classifications of pathogenicity
Health Risk
RS1290768701
Conflicting classifications of pathogenicity
Abnormal corpus callosum morphology, Intellectual disability, X-linked syndromic
Health Risk
RS1325394060
Conflicting classifications of pathogenicity
Intellectual disability, X-linked syndromic, Turner type
Health Risk
RS1365982862
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138433243
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, X-linked syndromic
Health Risk
RS1384867851
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (133)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782234241 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782306178 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked syndromic, Turner type |
| RS782307186 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782348242 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked syndromic, Turner type |
| RS782356520 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782367962 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782375893 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782393027 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782420395 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782423036 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked syndromic, Turner type |
| RS782428636 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782446150 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, HUWE1-related disorder, Inborn genetic diseases |
| RS782518860 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782526786 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked syndromic |
| RS782621365 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked syndromic |
| RS782641553 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782688724 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782737005 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782743763 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782772316 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782773400 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked syndromic |
| RS916882897 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS960157635 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057518704 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1057521722 | Health Risk | Likely pathogenic | — |
| RS1057521730 | Health Risk | Likely pathogenic | — |
| RS1057521791 | Health Risk | Likely pathogenic | — |
| RS1057521796 | Health Risk | Likely pathogenic | — |
| RS1057524560 | Health Risk | Likely pathogenic | — |
| RS121918527 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1556909335 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1556910184 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1556910261 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1556911750 | Health Risk | Likely pathogenic | — |
| RS1556912828 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1556913180 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1556913258 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1556913268 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1556927963 | Health Risk | Likely pathogenic | — |
| RS1556928966 | Health Risk | Likely pathogenic | — |
| RS1556955128 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1556978515 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1557006873 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1557006903 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1557036757 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1569398624 | Health Risk | Likely pathogenic | — |
| RS1569399945 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS1569509136 | Health Risk | Likely pathogenic | Trigonocephaly-short stature-developmental delay syndrome, Intellectual disability, X-linked syndromic |
| RS1602738933 | Health Risk | Likely pathogenic | Intellectual disability, X-linked syndromic, Turner type |
| RS2061073406 | Health Risk | Likely pathogenic | — |