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Gene

HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

Summary

Cytogenetic location
6q16.3
Coordinates
Chromosome 6: 104,728,094–104,859,919 (GRCh38)
Exons
24 exons across 131.8 kb
Protein
909 amino acids
Also known as
KIAA1320
MANE Select transcript
ENST00000262903.9NM_020771.4
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 reports 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.

        • 3 GenCC submitters rate it definitive or strong

    • 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.

        • 3 GenCC submitters rate it definitive or strong

    How HACE1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 6, with a bracket where HACE1 sits. HACE1 and 4 genes near it on chromosome 6, from 104,294,007 to 105,294,006.Chromosome 66q16.3p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27104.4 Mb104.6 Mb104.8 Mb105 Mb105.2 MbHACE1: 104,728,094–104,859,919, reverse strandHACE1LIN28B: 104,936,616–105,083,332, forward strandLIN28BPOPDC1: 105,096,822–105,137,237, reverse strandPOPDC1POPDC3: 105,157,892–105,180,447, reverse strandPOPDC3PREP: 105,273,218–105,454,062, reverse strandPREPDiagram of HACE1: 24 exons on the reverse strand of chromosome 6Exon 22: 2 known disease-causing sitesExon 20: 3 known disease-causing sitesExon 16: 2 known disease-causing sitesExon 14: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 24: 104,728,094–104,729,764, 1,671 basesExon 23: 104,730,303–104,730,416, 114 basesExon 22: 104,744,160–104,744,230, 71 basesExon 21: 104,744,512–104,744,610, 99 basesExon 20: 104,750,341–104,750,472, 132 basesExon 19: 104,771,193–104,771,389, 197 basesExon 18: 104,771,925–104,772,074, 150 basesExon 17: 104,776,741–104,776,828, 88 basesExon 16: 104,777,013–104,777,110, 98 basesExon 15: 104,777,206–104,777,317, 112 basesExon 14: 104,784,086–104,784,173, 88 basesExon 13: 104,784,417–104,784,485, 69 basesExon 12: 104,784,985–104,785,319, 335 basesExon 11: 104,791,504–104,791,654, 151 basesExon 10: 104,795,579–104,795,685, 107 basesExon 9: 104,796,655–104,796,756, 102 basesExon 8: 104,796,929–104,797,025, 97 basesExon 7: 104,811,311–104,811,393, 83 basesExon 6: 104,833,042–104,833,173, 132 basesExon 5: 104,843,223–104,843,298, 76 basesExon 4: 104,849,142–104,849,246, 105 basesExon 3: 104,850,907–104,850,996, 90 basesExon 2: 104,852,317–104,852,371, 55 basesExon 1: 104,859,567–104,859,919, 353 bases24201510515′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 4.6 kb of the gene's 131.8 kb; 2,730 of those bases code for the protein.

    How a genome test reads HACE1

    22

    positions in HACE1 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 131.8 kb of HACE1, introns included, not only the 4.6 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.). HACE1 gene: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/hace1

    Vancouver

    Dante Labs. HACE1 gene: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hace1

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