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Gene

USP48

ubiquitin specific peptidase 48

Summary

Cytogenetic location
1p36.12
Coordinates
Chromosome 1: 21,678,298–21,783,149 (GRCh38)
Exons
27 exons across 104.9 kb
Protein
1,035 amino acids
Inheritance
Autosomal dominant
Also known as
FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879
Previous symbols
USP31
MANE Select transcript
ENST00000308271.14NM_032236.8
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

  • Hearing Loss and Deafness

    • Autosomal Dominant Nonsyndromic Hearing LossAutosomal dominant

      Autosomal dominant form of nonsyndromic deafness.

      • 1 GenCC submitter rates it definitive or strong
    • Nonsyndromic Genetic Hearing Loss

      One of 97 genes linked to it

      Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How USP48 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 1, with a bracket where USP48 sits. USP48 and 12 genes near it on chromosome 1, from 21,230,724 to 22,230,723.Chromosome 11p36.12p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4421.4 Mb21.6 Mb21.8 Mb22 Mb22.2 MbECE1: 21,217,247–21,345,912, reverse strandECE1NBPF3: 21,439,853–21,485,005, forward strandNBPF3ALPL: 21,508,813–21,579,441, forward strandALPL: 21,547,404–21,554,002, forward strandRAP1GAP: 21,596,215–21,669,846, reverse strandRAP1GAPUSP48: 21,678,298–21,783,149, reverse strandUSP48LDLRAD2: 21,812,265–21,825,225, forward strandLDLRAD2HSPG2: 21,820,593–21,937,318, reverse strandHSPG2CELA3B: 21,977,022–21,998,642, forward strandCELA3BCELA3A: 22,001,657–22,012,542, forward strandCELA3A: 22,025,142–22,092,943, forward strandCDC42: 22,052,627–22,101,360, forward strandCDC42WNT4: 22,117,313–22,143,969, reverse strandWNT4Diagram of USP48: 27 exons on the reverse strand of chromosome 1Exon 27: 21,678,298–21,679,439, 1,142 basesExon 26: 21,680,808–21,680,834, 27 basesExon 25: 21,687,191–21,687,239, 49 basesExon 24: 21,689,974–21,690,099, 126 basesExon 23: 21,695,066–21,695,221, 156 basesExon 22: 21,701,498–21,701,602, 105 basesExon 21: 21,703,512–21,703,618, 107 basesExon 20: 21,704,262–21,704,392, 131 basesExon 19: 21,705,727–21,705,837, 111 basesExon 18: 21,706,126–21,706,187, 62 basesExon 17: 21,706,467–21,706,589, 123 basesExon 16: 21,706,744–21,706,868, 125 basesExon 15: 21,715,389–21,715,457, 69 basesExon 14: 21,721,036–21,721,166, 131 basesExon 13: 21,721,650–21,721,764, 115 basesExon 12: 21,723,898–21,724,095, 198 basesExon 11: 21,728,570–21,728,719, 150 basesExon 10: 21,729,704–21,729,832, 129 basesExon 9: 21,736,446–21,736,625, 180 basesExon 8: 21,747,067–21,747,149, 83 basesExon 7: 21,748,138–21,748,271, 134 basesExon 6: 21,751,507–21,751,615, 109 basesExon 5: 21,752,527–21,752,651, 125 basesExon 4: 21,752,992–21,753,119, 128 basesExon 3: 21,756,546–21,756,702, 157 basesExon 2: 21,757,663–21,757,783, 121 basesExon 1: 21,782,824–21,783,149, 326 bases2725201510515′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 4.4 kb of the gene's 104.9 kb; 3,108 of those bases code for the protein.

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.
  • 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.). USP48 gene: ubiquitin specific peptidase 48. Retrieved 16 October 2026, from https://dantelabs.com/genes/usp48

Vancouver

Dante Labs. USP48 gene: ubiquitin specific peptidase 48 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/usp48

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