UBR4 Chromosome 1
Ubiquitin protein ligase E3 component n-recognin 4
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What This Gene Does
The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in the cytoplasm and part of the chromatin scaffold in the nucleus. In addition, this protein is a target of the human papillomavirus type 16 E7 oncoprotein. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"Ubiquitin protein ligase E3 component n-recognins|Armadillo like helical domain containing|UBR4 complex"
Locus Type
gene with protein product
Location
1p36.13
Ensembl
ENSG00000127481
Associated Conditions (1)
Short stature
Key Variants
RS139998682
Conflicting classifications of pathogenicity
Health Risk
RS150747540
Conflicting classifications of pathogenicity
Health Risk
RS144709443
Likely pathogenic
Short stature, Short stature
Health Risk
RS747867083
Likely pathogenic
Short stature, Short stature
Health Risk
RS748323629
Likely pathogenic
Short stature, Short stature
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139998682 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150747540 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144709443 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS747867083 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS748323629 | Health Risk | Likely pathogenic | Short stature, Short stature |