Identity
HGNC
LOCATION
Xp11.3
LOCUSID
ALIAS
A1S9,A1S9T,A1ST,AMCX1,CFAP124,GXP1,POC20,SMAX2,UBA1A,UBE1,UBE1X,VEXAS
FUSION GENES
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: 7317
MIM: 314370
HGNC: 12469
Ensembl: ENSG00000130985
Variants:
dbSNP: 7317
ClinVar: 7317
TCGA: ENSG00000130985
COSMIC: UBA1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37632778 | 2024 | Clonal haematopoiesis and UBA1 mutations in individuals with biopsy-proven giant cell arteritis and population-based controls. | 1 |
| 38167209 | 2024 | Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis. | 1 |
| 37632778 | 2024 | Clonal haematopoiesis and UBA1 mutations in individuals with biopsy-proven giant cell arteritis and population-based controls. | 1 |
| 38167209 | 2024 | Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis. | 1 |
| 36537591 | 2023 | An update on VEXAS syndrome. | 7 |
| 37062784 | 2023 | Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome. | 1 |
| 36537591 | 2023 | An update on VEXAS syndrome. | 7 |
| 37062784 | 2023 | Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome. | 1 |
| 34048852 | 2022 | Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS. | 40 |
| 34474632 | 2022 | Looking for somatic mutations in UBA1 in patients with chronic myelomonocytic leukemia associated with systemic inflammation and autoimmune diseases. | 2 |
| 35094194 | 2022 | UBA1 gene mutation in giant cell arteritis. | 3 |
| 35713654 | 2022 | Absence of NLRP3 somatic mutations and VEXAS-related UBA1 mutations in a large cohort of patients with Schnitzler syndrome. | 3 |
| 35996994 | 2022 | Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy. | 0 |
| 36002395 | 2022 | Systematic search for the UBA1 mutation in men after a first episode of venous thromboembolism: A monocentric study. | 5 |
| 34048852 | 2022 | Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS. | 40 |
Citation
Dessen P
UBA1 (ubiquitin like modifier activating enzyme 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-08-01
Online version: http://atlasgeneticsoncology.org/gene/42744/uba1
