UBA5

Chr 3AR

ubiquitin like modifier activating enzyme 5

Also known as: DEE44, EIEE44, SCAR24, THIFP1, UBE1DC1

NCBI Gene: 79876 ENSG00000081307 UniProt: Q9GZZ9 OMIM: 610552

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Spinocerebellar ataxia, autosomal recessive 24MIM #617133

Developmental and epileptic encephalopathy 44MIM #617132

Clinical highlights

Gene-disease validity (ClinGen)

genetic developmental and epileptic encephalopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.72

LOEUF

LOF

Mechanism· G2P