MIB1 Chromosome 18
MIB E3 ubiquitin protein ligase 1
Upload your DNA to see your personal genotypes for variants in MIB1.
What This Gene Does
This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of death-associated protein kinase 1 (DAPK1). [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
"Ring finger proteins|Zinc fingers ZZ-type|Ankyrin repeat domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
18q11.2
Ensembl
ENSG00000101752
Associated Conditions (3)
Left ventricular noncompaction 7
Inborn genetic diseases
MIB1-related disorder
Key Variants
RS1019483000
Conflicting classifications of pathogenicity
Left ventricular noncompaction 7, Left ventricular noncompaction 7
Health Risk
RS1386314249
Conflicting classifications of pathogenicity
Health Risk
RS150652745
Conflicting classifications of pathogenicity
Left ventricular noncompaction 7, Inborn genetic diseases, Left ventricular noncompaction 7
Health Risk
RS200035428
Conflicting classifications of pathogenicity
Left ventricular noncompaction 7, MIB1-related disorder, Left ventricular noncompaction 7
Health Risk
RS201850378
Conflicting classifications of pathogenicity
Left ventricular noncompaction 7, Left ventricular noncompaction 7
Health Risk
RS1195745791
Likely pathogenic
Left ventricular noncompaction 7, Left ventricular noncompaction 7
Health Risk
RS1280935153
Likely pathogenic
Health Risk
RS1430105900
Likely pathogenic
Left ventricular noncompaction 7, Left ventricular noncompaction 7
Health Risk
RS1568229419
Likely pathogenic
Health Risk
RS2146454464
Likely pathogenic
Health Risk
RS2146474742
Likely pathogenic
Health Risk
RS2146505319
Likely pathogenic
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1019483000 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 7, Left ventricular noncompaction 7 |
| RS1386314249 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150652745 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 7, Inborn genetic diseases, Left ventricular noncompaction 7 |
| RS200035428 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 7, MIB1-related disorder, Left ventricular noncompaction 7 |
| RS201850378 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 7, Left ventricular noncompaction 7 |
| RS1195745791 | Health Risk | Likely pathogenic | Left ventricular noncompaction 7, Left ventricular noncompaction 7 |
| RS1280935153 | Health Risk | Likely pathogenic | — |
| RS1430105900 | Health Risk | Likely pathogenic | Left ventricular noncompaction 7, Left ventricular noncompaction 7 |
| RS1568229419 | Health Risk | Likely pathogenic | — |
| RS2146454464 | Health Risk | Likely pathogenic | — |
| RS2146474742 | Health Risk | Likely pathogenic | — |
| RS2146505319 | Health Risk | Likely pathogenic | — |
| RS2146508910 | Health Risk | Likely pathogenic | — |
| RS2146511357 | Health Risk | Likely pathogenic | — |
| RS2510690670 | Health Risk | Likely pathogenic | Left ventricular noncompaction 7, Left ventricular noncompaction 7 |
| RS2510764215 | Health Risk | Likely pathogenic | Left ventricular noncompaction 7, Left ventricular noncompaction 7 |
| RS748226232 | Health Risk | Likely pathogenic | MIB1-related disorder, MIB1-related disorder |
| RS749382493 | Health Risk | Likely pathogenic | — |
| RS757527279 | Health Risk | Likely pathogenic | Left ventricular noncompaction 7, Left ventricular noncompaction 7 |
| RS765597017 | Health Risk | Likely pathogenic | — |
| RS778947880 | Health Risk | Likely pathogenic | — |
| RS995007189 | Health Risk | Likely pathogenic | — |