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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UBA1
ubiquitin like modifier activating enzyme 1
Chromosome X · Xp11.3
NCBI Gene: 7317Ensembl: ENSG00000130985.18HGNC: HGNC:12469UniProt: A0A024R1A3
350PubMed Papers
22Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrioncytosolendosome membranedesmosomeinfantile-onset X-linked spinal muscular atrophyVEXAS syndromeX-linked distal arthrogryposis multiplex congenitaX-linked distal spinal muscular atrophy type 3
✦AI Summary

UBA1 encodes ubiquitin-like modifier activating enzyme 1, the primary E1 enzyme that catalyzes the first step of ubiquitin conjugation in the ubiquitin-proteasome system 1. UBA1 activates ubiquitin by adenylating its C-terminal glycine residue with ATP and linking it to a cysteine residue in E1, forming a ubiquitin-E1 thioester intermediate 1. Beyond protein degradation, UBA1 is essential for DNA damage response, promoting recruitment of TP53BP1 and BRCA1 at damage sites and facilitating formation of radiation-induced foci 1. Clinically, UBA1 mutations cause VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic), an adult-onset autoinflammatory disorder predominantly affecting men over 50 2. Somatic mutations clustered at methionine-41 eliminate the canonical UBA1b cytoplasmic isoform, impairing ubiquitination and activating innate immune pathways 12. This results in systemic inflammation manifesting as fever, chondritis, vasculitis, and neutrophilic skin/pulmonary involvement, frequently accompanied by myelodysplastic syndrome and macrocytic anemia with characteristic vacuoles in myeloid precursors 12. Treatment options include glucocorticoids, JAK inhibitors, tocilizumab, azacitidine, and hematopoietic stem cell transplantation as the only curative approach 23.

Sources cited
1
UBA1 catalyzes the first step of ubiquitin conjugation through adenylation and thioester formation; somatic Met41 mutations cause VEXAS syndrome with systemic inflammation and hematologic manifestations
PMID: 33108101
2
UBA1 mutations in VEXAS eliminate UBA1b isoform, impairing ubiquitination and activating innate immune pathways; describes clinical manifestations and treatment options including JAK inhibitors and stem cell transplantation
PMID: 38819628
3
VEXAS syndrome presents with inflammatory and hematological manifestations; therapeutic approaches include corticosteroids, JAK inhibitors, tocilizumab, azacitidine, and allogeneic hematopoietic stem cell transplantation
PMID: 38307404
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ22
infantile-onset X-linked spinal muscular atrophyOpen Targets
0.76Strong
VEXAS syndromeOpen Targets
0.74Strong
X-linked distal arthrogryposis multiplex congenitaOpen Targets
0.74Strong
X-linked distal spinal muscular atrophy type 3Open Targets
0.47Moderate
genetic disorderOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
dengue diseaseOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.29Weak
Parkinson diseaseOpen Targets
0.28Weak
lysosomal storage diseaseOpen Targets
0.28Weak
multiple sclerosisOpen Targets
0.28Weak
cancerOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
severe malarial anemiaOpen Targets
0.10Weak
breast cancerOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
atherosclerosisOpen Targets
0.07Suggestive
Spinal muscular atrophy X-linked 2UniProt
VEXAS syndromeUniProt
Pathogenic Variants1
NM_003334.4(UBA1):c.1660C>T (p.Pro554Ser)Likely pathogenic
not provided
★☆☆☆2020→ Residue 554
View on ClinVar ↗
Related Genes
RPS27AProtein interaction100%NAE1Protein interaction100%UBE2UProtein interaction100%UBE2KProtein interaction100%UBE2L6Protein interaction100%UBE2ZProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
91%
Ovary
89%
Heart
81%
Liver
69%
Bone Marrow
45%
Gene Interaction Network
Click a node to explore
UBA1RPS27ANAE1UBE2UUBE2KUBE2L6UBE2Z
PROTEIN STRUCTURE
Preparing viewer…
PDB4P22 · 2.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.11Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.05 [0.02–0.11]
RankingsWhere UBA1 stands among ~20K protein-coding genes
  • #904of 20,598
    Most Researched350 · top 5%
  • #4,651of 5,498
    Most Pathogenic Variants1
  • #82of 17,882
    Most Constrained (LOEUF)0.11 · top 1%
Genes detectedUBA1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Somatic Mutations in
PMID: 33108101
N Engl J Med · 2020
1.00
2
VEXAS syndrome: Clinical manifestations, diagnosis, and treatment.
PMID: 38160120
Reumatol Clin (Engl Ed) · 2024
0.90
3
VEXAS syndrome.
PMID: 33971000
Blood · 2021
0.80
4
An update on VEXAS syndrome.
PMID: 36537591
Expert Rev Clin Immunol · 2023
0.70
5
Spectrum of clonal hematopoiesis in VEXAS syndrome.
PMID: 37084382
Blood · 2023
0.60