NUB1

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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