UBAP1

Chr 9AD

ubiquitin associated protein 1

Also known as: NAG20, SPG80, UAP, UBAP, UBAP-1

NCBI Gene: 51271 ENSG00000165006 UniProt: Q9NZ09 OMIM: 609787

The protein is a component of the ESCRT-I complex that binds ubiquitinated cargo proteins and regulates their sorting into multivesicular bodies and proteasomal degradation. Mutations cause spastic paraplegia 80 with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI = 0.91, LOEUF = 0.38), indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spastic paraplegia 80, autosomal dominantMIM #618418

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.38

LOEUF

Multiple*

Mechanism· predicted