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Gene

UBA5

ubiquitin like modifier activating enzyme 5

Summary

Cytogenetic location
3q22.1
Coordinates
Chromosome 3: 132,660,329–132,679,794 (GRCh38)
Exons
12 exons across 19.5 kb
Protein
404 amino acids
Also known as
FLJ23251
Previous symbols
UBE1DC1
MANE Select transcript
ENST00000356232.10NM_024818.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • ClinGen rates the link definitive
        • 4 GenCC submitters rate it definitive or strong

    How UBA5 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 3, with a bracket where UBA5 sits. UBA5 and 8 genes near it on chromosome 3, from 132,170,062 to 133,170,061.Chromosome 33q22.1p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29132.2 Mb132.4 Mb132.6 Mb132.8 Mb133 MbCPNE4: 131,533,555–132,285,410, reverse strandCPNE4ACP3: 132,317,364–132,369,035, forward strandACP3DNAJC13: 132,417,488–132,539,032, forward strandDNAJC13ACAD11: 132,558,138–132,660,727, reverse strandACAD11NPHP3-ACAD11: 132,558,142–132,722,459, reverse strandNPHP3-ACAD11ACKR4: 132,597,250–132,618,967, forward strandACKR4UBA5: 132,660,329–132,679,794, forward strandUBA5NPHP3: 132,680,608–132,722,498, reverse strandNPHP3TMEM108: 133,038,276–133,397,775, forward strandTMEM108Diagram of UBA5: 12 exons on the forward strand of chromosome 3Exon 1: 3 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 1 known disease-causing siteExon 8: 4 known disease-causing sitesExon 9: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 1: 132,660,329–132,660,698, 370 basesExon 2: 132,665,823–132,665,868, 46 basesExon 3: 132,665,984–132,666,073, 90 basesExon 4: 132,668,818–132,668,927, 110 basesExon 5: 132,670,198–132,670,284, 87 basesExon 6: 132,670,965–132,671,049, 85 basesExon 7: 132,671,777–132,671,881, 105 basesExon 8: 132,672,050–132,672,177, 128 basesExon 9: 132,675,248–132,675,383, 136 basesExon 10: 132,675,605–132,675,680, 76 basesExon 11: 132,675,817–132,675,923, 107 basesExon 12: 132,676,443–132,679,794, 3,352 bases1246810125′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 4.7 kb of the gene's 19.5 kb; 1,215 of those bases code for the protein.

    How a genome test reads UBA5

    19

    positions in UBA5 where ClinVar classes a change as pathogenic or likely pathogenic

    2 of them (11%) fall in regions short reads find hard.

    • Segmental duplications (2 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

    A whole genome covers all 19.5 kb of UBA5, introns included, not only the 4.7 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). UBA5 gene: ubiquitin like modifier activating enzyme 5. Retrieved 16 October 2026, from https://dantelabs.com/genes/uba5

    Vancouver

    Dante Labs. UBA5 gene: ubiquitin like modifier activating enzyme 5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/uba5

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