Aliases for UBAP1 Gene
External Ids for UBAP1 Gene
Previous HGNC Symbols for UBAP1 Gene
Previous GeneCards Identifiers for UBAP1 Gene
This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
GeneCards Summary for UBAP1 Gene
UBAP1 (Ubiquitin Associated Protein 1) is a Protein Coding gene. Diseases associated with UBAP1 include Spastic Paraplegia 80, Autosomal Dominant and Intermediate Coronary Syndrome. Gene Ontology (GO) annotations related to this gene include ubiquitin binding. An important paralog of this gene is UBAP1L.
UniProtKB/Swiss-Prot Summary for UBAP1 Gene
Component of the ESCRT-I complex, a regulator of vesicular trafficking process (PubMed:21757351, PubMed:22405001, PubMed:31203368). Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) (PubMed:21757351, PubMed:22405001). Plays a role in the proteasomal degradation of ubiquitinated cell-surface proteins, such as EGFR and BST2 (PubMed:24284069, PubMed:22405001, PubMed:31203368).