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Gene

UCHL1

ubiquitin C-terminal hydrolase L1

Summary

Cytogenetic location
4p13
Coordinates
Chromosome 4: 41,256,928–41,268,455 (GRCh38)
Exons
9 exons across 11.5 kb
Protein
223 amino acids
Also known as
PGP9.5, Uch-L1, UCHL-1
Previous symbols
PARK5
MANE Select transcript
ENST00000284440.9NM_004181.5
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

    • Hereditary Spastic Paraplegia

      • Hereditary Spastic Paraplegia (All Types)

        One of 66 genes linked to it

        Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.

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

    How UCHL1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    Chromosome 4, with a bracket where UCHL1 sits. UCHL1 and 5 genes near it on chromosome 4, from 40,762,692 to 41,762,691.Chromosome 44p13p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.240.8 Mb41 Mb41.2 Mb41.4 Mb41.6 MbNSUN7: 40,749,776–40,811,184, forward strandNSUN7APBB2: 40,810,027–41,216,714, reverse strandAPBB2: 41,143,022–41,143,099, reverse strandUCHL1: 41,256,928–41,268,455, forward strandUCHL1LIMCH1: 41,359,574–41,700,049, forward strandLIMCH1PHOX2B: 41,744,082–41,748,887, reverse strandPHOX2BDiagram of UCHL1: 9 exons on the forward strand of chromosome 4Exon 1: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 1: 41,256,928–41,257,009, 82 basesExon 2: 41,257,115–41,257,126, 12 basesExon 3: 41,257,609–41,257,737, 129 basesExon 4: 41,260,647–41,260,797, 151 basesExon 5: 41,261,715–41,261,800, 86 basesExon 6: 41,261,876–41,261,923, 48 basesExon 7: 41,263,225–41,263,291, 67 basesExon 8: 41,264,103–41,264,161, 59 basesExon 9: 41,267,987–41,268,455, 469 bases1595′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 1.1 kb of the gene's 11.5 kb; 672 of those bases code for the protein.

    How a genome test reads UCHL1

    12

    positions in UCHL1 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 11.5 kb of UCHL1, introns included, not only the 1.1 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.). UCHL1 gene: ubiquitin C-terminal hydrolase L1. Retrieved 16 October 2026, from https://dantelabs.com/genes/uchl1

    Vancouver

    Dante Labs. UCHL1 gene: ubiquitin C-terminal hydrolase L1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/uchl1

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