UBA5 Chromosome 3
Ubiquitin like modifier activating enzyme 5
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What This Gene Does
This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Ubiquitin like modifier activating enzymes
Locus Type
gene with protein product
Location
3q22.1
Ensembl
ENSG00000081307
Associated Conditions (8)
Developmental and epileptic encephalopathy
44
Inborn genetic diseases
UBA5-related disorder
Spinocerebellar ataxia
autosomal recessive 24
Squamous cell carcinoma of the head and neck
Intellectual disability
Key Variants
RS150313260
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy
Health Risk
RS151048899
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy
Health Risk
RS1553770577
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy
Health Risk
RS532178791
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy
Health Risk
RS552931444
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy
Health Risk
RS769919837
Conflicting classifications of pathogenicity
Health Risk
RS772888455
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 44, Inborn genetic diseases
Health Risk
RS778957097
Conflicting classifications of pathogenicity
UBA5-related disorder, Developmental and epileptic encephalopathy, 44
Health Risk
RS1313071575
Likely pathogenic
Developmental and epileptic encephalopathy, 44, Squamous cell carcinoma of the head and neck
Health Risk
RS1363248710
Likely pathogenic
Health Risk
RS1938789249
Likely pathogenic
Health Risk
RS2107937292
Likely pathogenic
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150313260 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS151048899 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS1553770577 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS532178791 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS552931444 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS769919837 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772888455 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 44, Inborn genetic diseases |
| RS778957097 | Health Risk | Conflicting classifications of pathogenicity | UBA5-related disorder, Developmental and epileptic encephalopathy, 44 |
| RS1313071575 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 44, Squamous cell carcinoma of the head and neck |
| RS1363248710 | Health Risk | Likely pathogenic | — |
| RS1938789249 | Health Risk | Likely pathogenic | — |
| RS2107937292 | Health Risk | Likely pathogenic | — |
| RS2530303960 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS2530304011 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS2530325660 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 44, Spinocerebellar ataxia |
| RS376997494 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS61748106 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS886039757 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 44, UBA5-related disorder |
| RS886039759 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS886039761 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS1553770562 | Health Risk | Pathogenic | — |
| RS1938110760 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS1938819381 | Health Risk | Pathogenic | — |
| RS2107921941 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS2107922089 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS2107939877 | Health Risk | Pathogenic | — |
| RS2107943727 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS2107950178 | Health Risk | Pathogenic | — |
| RS2530278731 | Health Risk | Pathogenic | — |
| RS2530315359 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2530332377 | Health Risk | Pathogenic | — |
| RS540839115 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 24, UBA5-related disorder |
| RS745968949 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS766932828 | Health Risk | Pathogenic | Inborn genetic diseases, UBA5-related disorder, Inborn genetic diseases |
| RS774318611 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS886039756 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS886039758 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS886039760 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 44, Developmental and epileptic encephalopathy |
| RS886039762 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 24, Spinocerebellar ataxia |
| RS374052333 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 44, Spinocerebellar ataxia |
| RS762779162 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 44, Spinocerebellar ataxia |
| RS114925667 | Health Risk | Pathogenic/Likely pathogenic/Pathogenic, low penetrance | Developmental and epileptic encephalopathy, 44, Spinocerebellar ataxia |