Ubiquitin-Like Modifier Activating Enzyme 5

Alternative Names

  • UBA5
  • Ubiquitin-Activating Enzyme E1 Domain-Containing 1
  • UBE1DC1
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OMIM Number

610552

NCBI Gene ID

79876

Uniprot ID

Q9GZZ9

Length

25,365 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Ubiquitin-like modifier-activating enzyme 5

Molecular Mass

44863 Da

Amino Acid Count

404

Genomic Location

chr3:132,654,429-132,679,793

Gene Map Locus
3q22.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_024818.5:c.31C>TLebanonNC_000003.12:g.132660568C>TPathogenicSpinocerebellar Ataxia, Autosomal Recessive 24NG_052968.1:g.11123C>T; NM_024818.5:c.31C>T; NP_079094.1:p.Arg11Trp771295288
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