UBA1 Chromosome X
Ubiquitin like modifier activating enzyme 1
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What This Gene Does
The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ubiquitin like modifier activating enzymes|Cilia and flagella associated"
Locus Type
gene with protein product
Location
Xp11.3
Ensembl
ENSG00000130985
Associated Conditions (7)
Infantile-onset X-linked spinal muscular atrophy
Inborn genetic diseases
VEXAS syndrome
VEXAS
UBA1-related disorder
Congenital portosystemic shunt
Nonpapillary renal cell carcinoma
Key Variants
RS1173482035
Conflicting classifications of pathogenicity
Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy
Health Risk
RS140950898
Conflicting classifications of pathogenicity
Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy
Health Risk
RS148642741
Conflicting classifications of pathogenicity
Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy
Health Risk
RS1556787651
Conflicting classifications of pathogenicity
Infantile-onset X-linked spinal muscular atrophy, VEXAS syndrome, Inborn genetic diseases
Health Risk
RS1556788826
Conflicting classifications of pathogenicity
Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy
Health Risk
RS185589110
Conflicting classifications of pathogenicity
Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy
Health Risk
RS1936307795
Conflicting classifications of pathogenicity
Infantile-onset X-linked spinal muscular atrophy, VEXAS syndrome, VEXAS
Health Risk
RS200541240
Conflicting classifications of pathogenicity
Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy
Health Risk
RS368506746
Conflicting classifications of pathogenicity
Infantile-onset X-linked spinal muscular atrophy, Infantile-onset X-linked spinal muscular atrophy
Health Risk
RS370565575
Conflicting classifications of pathogenicity
Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy
Health Risk
RS373305404
Conflicting classifications of pathogenicity
Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Congenital portosystemic shunt
Health Risk
RS377527446
Conflicting classifications of pathogenicity
Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1173482035 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS140950898 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS148642741 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS1556787651 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, VEXAS syndrome, Inborn genetic diseases |
| RS1556788826 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS185589110 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS1936307795 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, VEXAS syndrome, VEXAS |
| RS200541240 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS368506746 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Infantile-onset X-linked spinal muscular atrophy |
| RS370565575 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS373305404 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Congenital portosystemic shunt |
| RS377527446 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases |
| RS5906354 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS781838601 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS781873529 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Infantile-onset X-linked spinal muscular atrophy |
| RS781909775 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS782097752 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS782416867 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, VEXAS, VEXAS syndrome |
| RS782451807 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS782527493 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS782712220 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Infantile-onset X-linked spinal muscular atrophy |
| RS782727078 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS782781187 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Infantile-onset X-linked spinal muscular atrophy |
| RS782796398 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS80356547 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS888369922 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy |
| RS2147273055 | Health Risk | Likely pathogenic | — |