UBAP1


Description

The UBAP1 (ubiquitin associated protein 1) is a protein-coding gene located on chromosome 9.

UBAP1 is a human gene encoding a protein belonging to the ubiquitin-associated domain (UBA) family. The UBA domain is involved in ubiquitin-binding. UBAP1 is located on chromosome 9 and has been implicated in nasopharyngeal carcinoma (NPC). Truncating mutations in UBAP1 cause Hereditary Spastic Paraplegia.

UBAP1 is a component of the ESCRT-I complex, which regulates vesicular trafficking. It binds ubiquitinated cargo proteins and sorts them into multivesicular bodies (MVBs) for degradation. UBAP1 also plays a role in the proteasomal degradation of ubiquitinated cell-surface proteins, such as EGFR and BST2.

UBAP1 is also known as NAG20, SPG80, UAP, UBAP, UBAP-1.

Associated Diseases



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