UBA5 (ubiquitin like modifier activating enzyme 5)

2007-04-01  

Identity

HGNC
LOCATION
3q22.1
LOCUSID
ALIAS
DEE44,EIEE44,SCAR24,THIFP1,UBE1DC1

Other Information

Locus ID:

NCBI: 79876
MIM: 610552
HGNC: 23230
Ensembl: ENSG00000081307

Variants:

dbSNP: 79876
ClinVar: 79876
TCGA: ENSG00000081307
COSMIC: UBA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081307ENST00000264991Q9GZZ9
ENSG00000081307ENST00000356232Q9GZZ9
ENSG00000081307ENST00000464068C9JRV9
ENSG00000081307ENST00000468022C9J0F6
ENSG00000081307ENST00000473651E7EWE1
ENSG00000081307ENST00000489361C9J5W5
ENSG00000081307ENST00000493720E7EQ61
ENSG00000081307ENST00000494238Q9GZZ9
ENSG00000081307ENST00000505777D6RJC9

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203683322010Crystal structure of the human ubiquitin-activating enzyme 5 (UBA5) bound to ATP: mechanistic insights into a minimalistic E1 enzyme.20
275456742016Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.16
275456812016Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.16
269294082016Structural and Functional Analysis of a Novel Interaction Motif within UFM1-activating Enzyme 5 (UBA5) Required for Binding to Ubiquitin-like Proteins and Ufmylation.14
184420522008UBE1DC1, an ubiquitin-activating enzyme, activates two different ubiquitin-like proteins.13
268720692016UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.13
276536772016Trans-Binding Mechanism of Ubiquitin-like Protein Activation Revealed by a UBA5-UFM1 Complex.9
249663332014Mechanistic study of Uba5 enzyme and the Ufm1 conjugation pathway.5
292865312018Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.4
249150892014Characterization, crystallization and preliminary X-ray crystallographic analysis of the Uba5 fragment necessary for high-efficiency activation of Ufm1.3

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