Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51271
MIM: 609787
HGNC: 12461
Ensembl: ENSG00000165006
Variants:
dbSNP: 51271
ClinVar: 51271
TCGA: ENSG00000165006
COSMIC: UBAP1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35347897 | 2022 | A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia. | 0 |
| 35347897 | 2022 | A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia. | 0 |
| 34191852 | 2021 | Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia. | 4 |
| 34191852 | 2021 | Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia. | 4 |
| 31696996 | 2020 | Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. | 10 |
| 32934340 | 2020 | Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. | 6 |
| 31696996 | 2020 | Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. | 10 |
| 32934340 | 2020 | Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. | 6 |
| 30929741 | 2019 | Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. | 21 |
| 30929741 | 2019 | Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. | 21 |
| 31203368 | 2019 | Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia. | 16 |
| 31515522 | 2019 | UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes. | 10 |
| 30929741 | 2019 | Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. | 21 |
| 30929741 | 2019 | Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. | 21 |
| 31203368 | 2019 | Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia. | 16 |
Citation
Dessen P
UBAP1 (ubiquitin associated protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-06-01
Online version: http://atlasgeneticsoncology.org/gene/42741/ubap1-(ubiquitin-associated-protein-1)
