UBR1 Chromosome 15
Ubiquitin protein ligase E3 component n-recognin 1
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What This Gene Does
The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ubiquitin protein ligase E3 component n-recognins
Locus Type
gene with protein product
Location
15q15.2
Ensembl
ENSG00000159459
Associated Conditions (5)
Johanson-Blizzard syndrome
Intellectual disability
Inborn genetic diseases
UBR1-related disorder
Microcephaly
Key Variants
RS1131691524
Conflicting classifications of pathogenicity
Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
Health Risk
RS117347582
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS1360665697
Conflicting classifications of pathogenicity
Inborn genetic diseases, Johanson-Blizzard syndrome, Inborn genetic diseases
Health Risk
RS139367236
Conflicting classifications of pathogenicity
UBR1-related disorder, Inborn genetic diseases, UBR1-related disorder
Health Risk
RS141227308
Conflicting classifications of pathogenicity
Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
Health Risk
RS141411839
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141543407
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141828250
Conflicting classifications of pathogenicity
Microcephaly, UBR1-related disorder, Microcephaly
Health Risk
RS141869423
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142285781
Conflicting classifications of pathogenicity
Johanson-Blizzard syndrome, UBR1-related disorder, Johanson-Blizzard syndrome
Health Risk
RS146271578
Conflicting classifications of pathogenicity
Health Risk
RS149864087
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (86)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS776967833 | Health Risk | Likely pathogenic | — |
| RS786205492 | Health Risk | Likely pathogenic | — |
| RS1042166926 | Health Risk | Pathogenic | — |
| RS119477055 | Health Risk | Pathogenic | Johanson-Blizzard syndrome, Johanson-Blizzard syndrome |
| RS1206778631 | Health Risk | Pathogenic | — |
| RS1249254589 | Health Risk | Pathogenic | — |
| RS1260647938 | Health Risk | Pathogenic | — |
| RS1428221545 | Health Risk | Pathogenic | — |
| RS1596106023 | Health Risk | Pathogenic | Johanson-Blizzard syndrome, Johanson-Blizzard syndrome |
| RS1596118528 | Health Risk | Pathogenic | Johanson-Blizzard syndrome, Johanson-Blizzard syndrome |
| RS1873545198 | Health Risk | Pathogenic | Johanson-Blizzard syndrome, Johanson-Blizzard syndrome |
| RS2033232817 | Health Risk | Pathogenic | Johanson-Blizzard syndrome, Johanson-Blizzard syndrome |
| RS2033596870 | Health Risk | Pathogenic | UBR1-related disorder, UBR1-related disorder |
| RS2033620480 | Health Risk | Pathogenic | — |
| RS2141248696 | Health Risk | Pathogenic | — |
| RS2141312913 | Health Risk | Pathogenic | Johanson-Blizzard syndrome, Johanson-Blizzard syndrome |
| RS2542898051 | Health Risk | Pathogenic | — |
| RS2542908777 | Health Risk | Pathogenic | — |
| RS2542908789 | Health Risk | Pathogenic | — |
| RS2542914494 | Health Risk | Pathogenic | — |
| RS2542967079 | Health Risk | Pathogenic | — |
| RS2542970874 | Health Risk | Pathogenic | — |
| RS2542998063 | Health Risk | Pathogenic | — |
| RS2543005572 | Health Risk | Pathogenic | — |
| RS2543005702 | Health Risk | Pathogenic | — |
| RS2543007689 | Health Risk | Pathogenic | — |
| RS2543044886 | Health Risk | Pathogenic | — |
| RS2543044907 | Health Risk | Pathogenic | — |
| RS267604210 | Health Risk | Pathogenic | Inborn genetic diseases, Johanson-Blizzard syndrome, Inborn genetic diseases |
| RS371156658 | Health Risk | Pathogenic | — |
| RS374049779 | Health Risk | Pathogenic | Johanson-Blizzard syndrome, Johanson-Blizzard syndrome |
| RS764158113 | Health Risk | Pathogenic | — |
| RS773670408 | Health Risk | Pathogenic | — |
| RS780491123 | Health Risk | Pathogenic | Johanson-Blizzard syndrome, Johanson-Blizzard syndrome |
| RS797045112 | Health Risk | Pathogenic | Johanson-Blizzard syndrome, Johanson-Blizzard syndrome |
| RS1265375100 | Health Risk | Pathogenic/Likely pathogenic | Johanson-Blizzard syndrome, Johanson-Blizzard syndrome |