AlphaFold predicted structure
UBAP1 · Q9NZ09
Mean pLDDT
62.5/ 100
Low
502 residues
Confidence breakdown
- Very high(≥ 90)19%
- Confident(70–90)22%
- Low(50–70)17%
- Very low(< 50)43%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
UBAP1
Chr 9p13.3ubiquitin associated protein 1
- MANE:
- ENST00000297661.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
spastic paraplegia 80, autosomal dominant
0.73hereditary spastic paraplegia
0.59neurodegenerative disease
0.54HIV infectious disease
0.53viral infectious disease
0.46Autosomal dominant spastic paraplegia type 12
0.38type 2 diabetes mellitus
0.28neuroendocrine neoplasm
0.28diabetes mellitus
0.26hereditary disease
0.19
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Ubiquitin-associated protein 1
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)
Diseases associated with UBAP1
Curated MONDO disease pages that list UBAP1 among their top associated genes.