Ubiquitination Factor E4A

Alternative Names

  • UBE4A
  • UFD2, S. Cerevisiae, Homolog Of
  • Ubiquitin Conjugation Factor E4
  • E4
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OMIM Number

603753

NCBI Gene ID

9354

Uniprot ID

Q14139

Length

39,612 bases

No. of Exons

20

No. of isoforms

2

Protein Name

Ubiquitin conjugation factor E4 A

Molecular Mass

122561 Da

Amino Acid Count

1066

Genomic Location

chr11:118,359,600-118,399,211

Gene Map Locus
11q23.3

Description

Ubiquitination is a cellular process by which a small regulatory protein called ubiquitin is attached to a substrate protein. This protein modification can target the substrate for degradation through the proteasome, alter its cellular location, affect its activity or promote/prevent protein interactions. Ubiquitination requires several enzymes, namely: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. UBE4A encodes an additional E4 conjugation factor, required for efficient polyubiquitination that would enable proteasomal targeting of a substrate. The EF enzyme binds to the ubiquitin moieties of preformed conjugates and works in conjunction with E1, E2 and E3 to catalyze the ubiquitin chain assembly.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001204077.2:c.384G>ASaudi ArabiaNC_000011.10:g.118369511G>APathogenicPathogenicNeurodevelopmental Disorder with Hypotonia and Gross Motor and Speech DelayNG_047106.1:g.14931G>A; NM_001204077.2:c.384G>A; NP_001191006.1:p.Trp128Ter1326859
NM_001204077.2:c.631C>TIraqNC_000011.10:g.118372576C>TPathogenicPathogenicNeurodevelopmental Disorder with Hypotonia and Gross Motor and Speech DelayNG_047106.1:g.17996C>T; NM_001204077.2:c.631C>T; NP_001191006.1:p.Arg211Ter7489269761326860
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