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: 79876
MIM: 610552
HGNC: 23230
Ensembl: ENSG00000081307
Variants:
dbSNP: 79876
ClinVar: 79876
TCGA: ENSG00000081307
COSMIC: UBA5
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38079206 | 2023 | Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. | 2 |
| 38079206 | 2023 | Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. | 2 |
| 33853163 | 2021 | Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy. | 4 |
| 34299007 | 2021 | A Concerted Action of UBA5 C-Terminal Unstructured Regions Is Important for Transfer of Activated UFM1 to UFC1. | 4 |
| 34508858 | 2021 | Structure and dynamics of UBA5-UFM1 complex formation showing new insights in the UBA5 activation mechanism. | 0 |
| 34588452 | 2021 | Structural basis for UFM1 transfer from UBA5 to UFC1. | 11 |
| 33853163 | 2021 | Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy. | 4 |
| 34299007 | 2021 | A Concerted Action of UBA5 C-Terminal Unstructured Regions Is Important for Transfer of Activated UFM1 to UFC1. | 4 |
| 34508858 | 2021 | Structure and dynamics of UBA5-UFM1 complex formation showing new insights in the UBA5 activation mechanism. | 0 |
| 34588452 | 2021 | Structural basis for UFM1 transfer from UBA5 to UFC1. | 11 |
| 30990354 | 2020 | An atypical LIR motif within UBA5 (ubiquitin like modifier activating enzyme 5) interacts with GABARAP proteins and mediates membrane localization of UBA5. | 23 |
| 32179706 | 2020 | A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy. | 11 |
| 30990354 | 2020 | An atypical LIR motif within UBA5 (ubiquitin like modifier activating enzyme 5) interacts with GABARAP proteins and mediates membrane localization of UBA5. | 23 |
| 32179706 | 2020 | A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy. | 11 |
| 29902590 | 2019 | Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. | 8 |
Citation
Dessen P
UBA5 (ubiquitin like modifier activating enzyme 5)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46973/uba5
