UBAP1
Domain
The UMA domain mediates association with the ESCRT-I complex.
Function
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:22405001, PubMed:24284069, PubMed:31203368).
Involvement in disease
Spastic paraplegia 80, autosomal dominant
SPG80
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Ubiquitous. Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle and pancreas.
Cellular localization
- Cytoplasm
- Cytosol
- Endosome
- Predominantly cytosolic (PubMed:21757351). Recruited to endosomes as part of the ESCRT-I complex (PubMed:21757351).
Alternative names
NAG20, UBAP1, Ubiquitin-associated protein 1, UBAP-1, Nasopharyngeal carcinoma-associated gene 20 protein