NUB1
Description
The NUB1 (negative regulator of ubiquitin like proteins 1) is a protein-coding gene located on chromosome 7.
NEDD8 ultimate buster 1 is a protein encoded by the NUB1 gene in humans. It interacts with and negatively regulates NEDD8, a ubiquitin-like protein that covalently conjugates to cullin family members. NUB1 has been shown to interact with NEDD8, UBD, and AIPL1.
NUB1 specifically down-regulates the NEDD8 conjugation system. It recruits NEDD8, UBD, and their conjugates to the proteasome for degradation. Isoform 1 is more efficient than isoform 2 in promoting NEDD8 degradation.
NUB1 is also known as BS4, NUB1L, NYREN18.
Associated Diseases
- 22q11.2 deletion syndrome
- immunodeficiency 80 with or without congenital cardiomyopathy
- retinitis pigmentosa and erythrocytic microcytosis
- cancer
- lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
- immunodeficiency 76
- severe combined immunodeficiency due to LAT deficiency
- severe combined immunodeficiency due to IKK2 deficiency
- aplasia cutis congenita-intestinal lymphangiectasia syndrome
- immunodeficiency 105
- neuronal ceroid lipofuscinosis 9
- lymphoproliferative syndrome 1
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- immunodeficiency 19
- immunodeficiency 72 with autoinflammation
- combined immunodeficiency due to ZAP70 deficiency
