UBA5
Chr 3ARubiquitin like modifier activating enzyme 5
Also known as: DEE44, EIEE44, SCAR24, THIFP1, UBE1DC1
The protein functions as an E1-like enzyme that catalyzes the first step in ufmylation by activating UFM1 through ATP-dependent adenylation and thioester bond formation, a post-translational modification pathway essential for ribosome recycling, DNA damage response, and reticulophagy. Biallelic mutations cause autosomal recessive spinocerebellar ataxia type 24 and developmental and epileptic encephalopathy 44. Disease mutations can cause pathogenicity through multiple mechanisms including loss-of-function and dominant-negative effects depending on the specific variant.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UBA5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools