UBAC1
Description
The UBAC1 (UBA domain containing 1) is a protein-coding gene located on chromosome 9.
Ubiquitin-associated domain-containing protein 1 is a protein that in humans is encoded by the UBAC1 gene.
UBAC1 is a non-catalytic component of the KPC complex, an E3 ubiquitin ligase that regulates the degradation of proteins like CDKN1B and NFKB1. The KPC complex promotes the degradation of CDKN1B during the G1 phase of the cell cycle and regulates NF-kappa-B signaling by promoting the maturation of NFKB1. Within the KPC complex, UBAC1 acts as an adapter protein that facilitates the transfer of polyubiquitinated target proteins from RNF123/KPC1 to the 26S proteasome.
UBAC1 is also known as GBDR1, KPC2, UBADC1.
Associated Diseases
- hemoglobin E-beta-thalassemia syndrome
- primary familial polycythemia due to EPO receptor mutation
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- alpha-thalassemia-myelodysplastic syndrome
- hemoglobin D disease
- dehydrated hereditary stomatocytosis
- beta-thalassemia-X-linked thrombocytopenia syndrome
- Rh deficiency syndrome
- dominant beta-thalassemia
- alpha thalassemia-intellectual disability syndrome type 1
- delta-beta-thalassemia
- hemoglobin E disease
- hemoglobin C-beta-thalassemia syndrome
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- hemoglobin H disease
- familial pseudohyperkalemia
- IRIDA syndrome
