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Gene

UBA1

ubiquitin like modifier activating enzyme 1

Summary

Cytogenetic location
Xp11.3
Coordinates
Chromosome X: 47,193,829–47,215,128 (GRCh38)
Exons
26 exons across 21.3 kb
Protein
1,058 amino acids
Also known as
UBE1X, POC20, CFAP124
Previous symbols
A1S9T, GXP1, UBE1
MANE Select transcript
ENST00000335972.11NM_003334.4
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

  • Spinal Muscular Atrophy

    • A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care

How UBA1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where UBA1 sits. UBA1 and 16 genes near it on chromosome X, from 46,704,479 to 47,704,478.Chromosome XXp11.3p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2846.8 Mb47 Mb47.2 Mb47.4 Mb47.6 MbSLC9A7: 46,599,251–46,759,215, reverse strandSLC9A7RP2: 46,836,922–46,889,240, forward strandRP2JADE3: 46,912,276–47,061,242, forward strandJADE3RGN: 47,061,388–47,096,431, forward strandRGNNDUFB11: 47,142,071–47,145,507, reverse strandNDUFB11RBM10: 47,144,284–47,186,814, forward strandRBM10UBA1: 47,193,829–47,215,128, forward strandUBA1CDK16: 47,217,860–47,230,000, forward strandCDK16USP11: 47,232,866–47,248,328, forward strandUSP11ZNF157: 47,366,479–47,414,624, forward strandZNF157ZNF41: 47,444,693–47,483,247, reverse strandZNF41ARAF: 47,561,043–47,571,921, forward strandARAFSYN1: 47,571,890–47,619,970, reverse strandSYN1TIMP1: 47,582,227–47,586,793, forward strandTIMP1CFP: 47,621,537–47,630,305, reverse strandCFPELK1: 47,631,617–47,650,604, reverse strandELK1UXT: 47,651,792–47,659,301, reverse strandUXTDiagram of UBA1: 26 exons on the forward strand of chromosome XExon 3: 2 known disease-causing sitesExon 15: 1 known disease-causing siteExon 1: 47,193,829–47,194,024, 196 basesExon 2: 47,198,803–47,198,919, 117 basesExon 3: 47,199,048–47,199,106, 59 basesExon 4: 47,199,209–47,199,377, 169 basesExon 5: 47,199,480–47,199,614, 135 basesExon 6: 47,200,894–47,201,000, 107 basesExon 7: 47,201,276–47,201,366, 91 basesExon 8: 47,201,478–47,201,610, 133 basesExon 9: 47,202,156–47,202,253, 98 basesExon 10: 47,202,358–47,202,504, 147 basesExon 11: 47,202,638–47,202,814, 177 basesExon 12: 47,202,943–47,203,047, 105 basesExon 13: 47,203,134–47,203,214, 81 basesExon 14: 47,203,541–47,203,696, 156 basesExon 15: 47,205,948–47,206,113, 166 basesExon 16: 47,206,248–47,206,444, 197 basesExon 17: 47,209,623–47,209,687, 65 basesExon 18: 47,209,928–47,210,123, 196 basesExon 19: 47,210,842–47,210,916, 75 basesExon 20: 47,211,036–47,211,225, 190 basesExon 21: 47,212,424–47,212,512, 89 basesExon 22: 47,212,771–47,212,863, 93 basesExon 23: 47,212,990–47,213,181, 192 basesExon 24: 47,214,327–47,214,428, 102 basesExon 25: 47,214,537–47,214,637, 101 basesExon 26: 47,214,794–47,215,128, 335 bases124681012141618202224265′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 3.6 kb of the gene's 21.3 kb; 3,177 of those bases code for the protein.

How a genome test reads UBA1

3

positions in UBA1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 21.3 kb of UBA1, introns included, not only the 3.6 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.). UBA1 gene: ubiquitin like modifier activating enzyme 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/uba1

Vancouver

Dante Labs. UBA1 gene: ubiquitin like modifier activating enzyme 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/uba1

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